John W. Day, MD, PhD

5.0/5

John W. Day, MD, PhD

Neuromuscular neurologist, Neurophysiologist

Professor of Neurology and Neurological Sciences (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology

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Professional Summary

Education & Certifications

Medical Education: University of Minnesota School of Medicine (1977) MN
Professional Education: Albert Einstein College of Medicine (1982) NY
Fellowship: UCSF Dept of Neurology (1987) CA
- Residency: UCSF Dept of Neurology (1986) CA
- Residency, UCSF, Department of Neurology (1986)
- Internship: Montefiore Medical Center - Albert Einstein College of Medicine (1983) NY
- Board Certification: American Board of Psychiatry and Neurology, Neurology (1988)
- Ph.D, Albert Einstein College of Medicine, Neuroscience (1982)
- M.D, University of Minnesota, Medicine (1977)
- BA, Oberlin College, Physics (1973)

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Honors & Awards

All University Post-Baccalaureate Teaching Award, All University Post-Baccalaureate Teaching Award (2007)
All University Post-Baccalaureate Teaching Award, University of Minnesota (2007)
Clinical Investigator Development Award, NINCDS, NIH (1986)
- Distinguished Teaching Award, University of California San Francisco (1985)
- Distinguished Teaching Award, University of Minnesota Medical School (1996)
- Distinguished Teaching Award, University of Minnesota Medical School (2001)
- Distinguished Teaching Award, University of Minnesota Medical School (2003)
- Distinguished Teaching Award, University of Minnesota Medical School (2005)
- Grass Foundation Fellow in Neurophysiology, Marine Biological Lab, Woods Holes, MA (1978)
- Leon Poliachik Humanitarian Award, University of Minnesota ALS Clinic (2002)
- Outstanding Teaching Award, University of Minnesota Medical School (2005)
- Recognized among Best Physicians in Minnesota, Twin Cities Magazine (2010)

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Administrative Appointments

Associate Head for Clinical Affairs, Neurology Department, U of MN (1999 - 2001)
Director, Center for Muscle Disorders, University of Minnesota (1996 - 2003)
Director, Neuromuscular Division and Clinics, Stanford University (2011 - Present)
- Director, Paul and Sheila Wellstone Muscular Dystrophy Center, U of MN (2003 - 2011)
- Institute of Human Genetics, Executive Board, University of Minnesota (1999 - 2011)
- Medical Director, Clinical, Neuroscience Research Unit (1997 - 2003)

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Publications

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
Day, J. W., Roelofs, R., Leroy, B., Pech, I., Benzow, K., & Ranum, L. P. W. (1999). Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). NEUROMUSCULAR DISORDERS, 9(1), 19–27.
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
Moseley, M. L., Schut, M. J., Bird, T. D., Koob, M. D., Day, J. W., & Ranum, L. P. W. (2000). SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. HUMAN MOLECULAR GENETICS, 9(14), 2125–2130.
Spinocerebellar ataxia type 8 - Clinical features in a large family
Day, J. W., Schut, L. J., Moseley, M. L., Durand, A. C., & Ranum, L. P. W. (2000). Spinocerebellar ataxia type 8 - Clinical features in a large family. NEUROLOGY, 55(5), 649–657.
- Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma
  Koenigbauer, U. F., Eastlund, T., & Day, J. W. (2000). Clinical illness due to parvovirus B19 infection after infusion of solvent/detergent-treated pooled plasma. TRANSFUSION, 40(10), 1203–1206.
- Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
  Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., NAYLOR, S. L., … Ranum, L. P. W. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. SCIENCE, 293(5531), 864–867.
- Force assessment in periodic paralysis after electrical muscle stimulation
  Day, J. W., Sakamoto, C., Parry, G. J., Lehmann-Horn, F., & Iaizzo, P. A. (2002). Force assessment in periodic paralysis after electrical muscle stimulation. MAYO CLINIC PROCEEDINGS, 77(3), 232–240.
- Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.
  Ranum, L. P. W., & Day, J. W. (2002). Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Current Neurology and Neuroscience Reports, 2(5), 465–470.
- Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis
  Wolfe, G. I., Barohn, R. J., Foster, B. M., Jackson, C. E., Kissel, J. T., Day, J. W., … Mendell, J. R. (2002). Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis. MUSCLE & NERVE, 26(4), 549–552.
- Myotonic dystrophy type 2 - Molecular, diagnostic and clinical spectrum
  Day, J. W., Ricker, K., Jacobsen, J. F., Rasmussen, L. J., Dick, K. A., Kress, W., … Ranum, L. P. W. (2003). Myotonic dystrophy type 2 - Molecular, diagnostic and clinical spectrum. NEUROLOGY, 60(4), 657–664.
- NICOTINIC ACETYLCHOLINE-RECEPTOR DESENSITIZATION IS REGULATED BY ACTIVATION-INDUCED EXTRACELLULAR ADENOSINE ACCUMULATION
  Pitchford, S., Day, J. W., Gordon, A., & MOCHLYROSEN, D. (1992). NICOTINIC ACETYLCHOLINE-RECEPTOR DESENSITIZATION IS REGULATED BY ACTIVATION-INDUCED EXTRACELLULAR ADENOSINE ACCUMULATION. JOURNAL OF NEUROSCIENCE, 12(11), 4540–4544.
- Autoimmune rippling muscle
  Muley, S. A., & Day, J. W. (2003). Autoimmune rippling muscle. NEUROLOGY, 61(6), 869–870.
- Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract
  Liquori, C. L., Ikeda, Y., Weatherspoon, M., Ricker, K., Schoser, B. G. H., DALTON, J. C., … Ranum, L. P. W. (2003). Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract. AMERICAN JOURNAL OF HUMAN GENETICS, 73(4), 849–862.
- Molecular genetics of spinocerebellar ataxia type 8 (SCA8)
  Mosemiller, A. K., DALTON, J. C., Day, J. W., & Ranum, L. P. W. (2003). Molecular genetics of spinocerebellar ataxia type 8 (SCA8). CYTOGENETIC AND GENOME RESEARCH, 100(1-4), 175–183.
- Rapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg
  Walk, D., Li, L. Y. J., Parry, G. J., & Day, J. W. (2004). Rapid resolution of quadriplegic CIDP by combined plasmapheresis and IVIg. NEUROLOGY, 62(1), 155–156.
- Myotonic dystrophy: RNA pathogenesis comes into focus
  Ranum, L. P. W., & Day, J. W. (2004). Myotonic dystrophy: RNA pathogenesis comes into focus. AMERICAN JOURNAL OF HUMAN GENETICS, 74(5), 793–804.
- Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia
  Ikeda, Y., DALTON, J. C., Moseley, M. L., Gardner, K. L., Bird, T. D., Ashizawa, T., … Ranum, L. P. W. (2004). Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia. AMERICAN JOURNAL OF HUMAN GENETICS, 75(1), 3–16.
- Sudden cardiac death in myotonic dystrophy type 2
  Schoser, B. G. H., Ricker, K., Schneider-Gold, C., Hengstenberg, C., Durre, J., Bultmann, B., … Ranum, L. P. W. (2004). Sudden cardiac death in myotonic dystrophy type 2. NEUROLOGY, 63(12), 2402–2404.
- RNA pathogenesis of the myotonic dystrophies
  Day, J. W., & Ranum, L. P. W. (2005). RNA pathogenesis of the myotonic dystrophies. NEUROMUSCULAR DISORDERS, 15(1), 5–16.
- Genetics and molecular pathogenesis of the myotonic dystrophies.
  Day, J. W., & Ranum, L. P. W. (2005). Genetics and molecular pathogenesis of the myotonic dystrophies. Current Neurology and Neuroscience Reports, 5(1), 55–59.
- Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation
  Trudeau, M. M., DALTON, J. C., Day, J. W., Ranum, L. P. W., & Meisler, M. H. (2006). Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. JOURNAL OF MEDICAL GENETICS, 43(6), 527–530.
- Spectrin mutations cause spinocerebellar ataxia type 5
  Ikeda, Y., Dick, K. A., Weatherspoon, M. R., Gincel, D., Armbrust, K. R., DALTON, J. C., … Ranum, L. P. W. (2006). Spectrin mutations cause spinocerebellar ataxia type 5. NATURE GENETICS, 38(2), 184–190.
- DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
  Margolis, J. M., Schoser, B. G., Moseley, M. L., Day, J. W., & Ranum, L. P. W. (2006). DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. HUMAN MOLECULAR GENETICS, 15(11), 1808–1815.
- Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520.
  Meisler, M. H., Trudeau, M. M., DALTON, J. C., Day, J. W., & Ranum, L. P. W. (2006). Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520. Human Genetics, 118(6), 776-?
- Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
  Saito, T., Amakusa, Y., Kimura, T., Yahara, O., Aizawa, H., Ikeda, Y., … Matsuura, T. (2008). Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. NEUROGENETICS, 9(1), 61–63.
- Congenital muscular dystrophy in a new age
  Day, J. W. (2008). Congenital muscular dystrophy in a new age. NEUROLOGY, 71(5), 308–309.
- Dominant non-coding repeat expansions in human disease.
  Dick, K. A., Margolis, J. M., Day, J. W., & Ranum, L. P. W. (2006). Dominant non-coding repeat expansions in human disease. Genome Dynamics, 1, 67–83.
- SNP Haplotype Mapping in a Small ALS Family
  Krueger, K. A. D., Tsuji, S., Fukuda, Y., Takahashi, Y., Goto, J., Mitsui, J., … Ranum, L. P. W. (2009). SNP Haplotype Mapping in a Small ALS Family. PLOS ONE, 4(5).
- Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort
  Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Gappmaier, E., Howard, M. T., … Weiss, R. B. (2009). Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort. HUMAN MUTATION, 30(12), 1657–1666.
- TRAUMA, TDP-43, AND AMYOTROPHIC LATERAL SCLEROSIS
  Appel, S. H., Cwik, V. A., & Day, J. W. (2010). TRAUMA, TDP-43, AND AMYOTROPHIC LATERAL SCLEROSIS. MUSCLE & NERVE, 42(6), 851–852.
- Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: A case series
  Arikian, A., Boutelle, K., Peterson, C. B., Dalton, J., Day, J. W., & Crow, S. J. (2010). Targeting parents for the treatment of pediatric obesity in boys with Duchenne muscular dystrophy: A case series. EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY, 15(3), E161–E165.
- White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study
  Wozniak, J. R., Mueller, B. A., Ward, E. E., Lim, K. O., & Day, J. W. (2011). White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study. NEUROMUSCULAR DISORDERS, 21(2), 89–96.
- Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
  Rau, F., Freyermuth, F., Fugier, C., Villemin, J.-P., Fischer, M.-C., Jost, B., … Charlet-Berguerand, N. (2011). Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. NATURE STRUCTURAL & MOLECULAR BIOLOGY, 18(7), 840–U120.
- Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy
  Escolar, D. M., Hache, L. P., Clemens, P. R., Cnaan, A., McDonald, C. M., Viswanathan, V., … Connolly, A. M. (2011). Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. NEUROLOGY, 77(5), 444–452.
- Spinocerebellar ataxia type 5.
  Dick, K. A., Ikeda, Y., Day, J. W., & Ranum, L. P. W. (2012). Spinocerebellar ataxia type 5. Handbook of Clinical Neurology, 103, 451–459.
- Clinical and genetic features of spinocerebellar ataxia type 8.
  Ikeda, Y., Ranum, L. P. W., & Day, J. W. (2012). Clinical and genetic features of spinocerebellar ataxia type 8. Handbook of Clinical Neurology, 103, 493–505.
- 2010 Marigold therapeutic strategies for myotonic dystrophy.
  Blonsky, K., Monckton, D., Wieringa, B., Schoser, B., Day, J. W., & Engelen, B. van. (2012). 2010 Marigold therapeutic strategies for myotonic dystrophy. Neuromuscular Disorders , 22(1), 87–94.
- Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene
  Flanigan, K. M., Dunn, D. M., von Niederhausern, A., Soltanzadeh, P., Howard, M. T., Sampson, J. B., … Weiss, R. B. (2011). Nonsense Mutation-Associated Becker Muscular Dystrophy: Interplay Between Exon Definition and Splicing Regulatory Elements within the DMD Gene. HUMAN MUTATION, 32(3), 299–308.
- Cerebral and muscle MRI abnormalities in myotonic dystrophy
  Franc, D. T., Muetzel, R. L., Robinson, P. R., Rodriguez, C. P., Dalton, J. C., Naughton, C. E., … Day, J. W. (2012). Cerebral and muscle MRI abnormalities in myotonic dystrophy. NEUROMUSCULAR DISORDERS, 22(6), 483–91.
- NORMOCALCEMIC TETANY ABOLISHED BY CALCIUM INFUSION
  Day, J. W., & Parry, G. J. (1990). NORMOCALCEMIC TETANY ABOLISHED BY CALCIUM INFUSION. ANNALS OF NEUROLOGY, 27(4), 438–440.
- THUNDERCLAP HEADACHE - SYMPTOM OF UNRUPTURED CEREBRAL ANEURYSM
  Day, J. W., & Raskin, N. H. (1986). THUNDERCLAP HEADACHE - SYMPTOM OF UNRUPTURED CEREBRAL ANEURYSM. LANCET, 2(8518), 1247–1248.
- TIME COURSE OF MINIATURE POSTSYNAPTIC POTENTIALS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH
  Day, J. W., Huse, W. D., & Bennett, M. V. L. (1985). TIME COURSE OF MINIATURE POSTSYNAPTIC POTENTIALS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH. BRAIN RESEARCH, 325(1-2), 115–128.
- POSTSYNAPTIC CURRENTS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH
  Huse, W. D., Day, J. W., & Bennett, M. V. L. (1985). POSTSYNAPTIC CURRENTS AT THE MAUTHNER FIBER GIANT SYNAPSE OF THE HATCHETFISH. BRAIN RESEARCH, 325(1-2), 129–141.
- POSTSYNAPTIC DEPRESSION OF MAUTHNER CELL-MEDIATED STARTLE REFLEX, A POSSIBLE CONTRIBUTOR TO HABITUATION
  ALJURE, E., Day, J. W., & Bennett, M. V. L. (1980). POSTSYNAPTIC DEPRESSION OF MAUTHNER CELL-MEDIATED STARTLE REFLEX, A POSSIBLE CONTRIBUTOR TO HABITUATION. BRAIN RESEARCH, 188(1), 261–268.
- Transgenic mouse model of the slow-channel syndrome
  GOMEZ, C. M., Bhattacharyya, B. B., Charnet, P., Day, J. W., Labarca, C., Wollmann, R. L., & Lambert, E. H. (1996). Transgenic mouse model of the slow-channel syndrome. MUSCLE & NERVE, 19(1), 79–87.
- An improved method for muscle force neuromuscular disease assessment
  Brass, T. J., Loushin, M. K. H., Day, J. W., & Iaizzo, P. A. (1996). An improved method for muscle force neuromuscular disease assessment. JOURNAL OF MEDICAL ENGINEERING & TECHNOLOGY, 20(2), 67–74.
- Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction
  GOMEZ, C. M., Maselli, R., Gundeck, J. E., Chao, M., Day, J. W., Tamamizu, S., … Wollmann, R. L. (1997). Slow-channel transgenic mice: A model of postsynaptic organellar degeneration at the neuromuscular junction. JOURNAL OF NEUROSCIENCE, 17(11), 4170–4179.
- Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents
  Bhattacharyya, B. J., Day, J. W., Gundeck, J. E., Leonard, S., Wollmann, R. L., & GOMEZ, C. M. (1997). Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents. SYNAPSE, 27(4), 367–377.
- Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
  Koob, M. D., Benzow, K. A., Bird, T. D., Day, J. W., Moseley, M. L., & Ranum, L. P. W. (1998). Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. NATURE GENETICS, 18(1), 72–75.
- Genetic mapping of a second myotonic dystrophy locus
  Ranum, L. P. W., Rasmussen, P. F., Benzow, K. A., Koob, M. D., & Day, J. W. (1998). Genetic mapping of a second myotonic dystrophy locus. NATURE GENETICS, 19(2), 196–198.
- Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome.
  GOMEZ, C. M., Maselli, R., Williams, J. M., Bhattacharyya, B. B., Wollmann, R. L., & Day, J. W. (1998). Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. Annals of the New York Academy of Sciences, 841, 167–180.
- Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1
  Wozniak, J. R., Mueller, B. A., Bell, C. J., Muetzel, R. L., Lim, K. O., & Day, J. W. (2013). Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1. JOURNAL OF NEUROLOGY, 260(4), 1122–31.
- A focal domain of extreme demethylation within D4Z4 in FSHD2
  Hartweck, L. M., Anderson, L. J., Lemmers, R. J., Dandapat, A., Toso, E. A., Dalton, J. C., … Kyba, M. (2013). A focal domain of extreme demethylation within D4Z4 in FSHD2. NEUROLOGY, 80(4), 392–399.
- LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
  Flanigan, K. M., Ceco, E., Lamar, K.-M., Kaminoh, Y., Dunn, D. M., Mendell, J. R., … Weiss, R. B. (2013). LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy. ANNALS OF NEUROLOGY, 73(4), 481–488.
- Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network
  Connolly, A. M., Florence, J. M., Cradock, M. M., Malkus, E. C., Schierbecker, J. R., Siener, C. A., … Eagle, M. (2013). Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. NEUROMUSCULAR DISORDERS, 23(7), 529–539.
- Diagnostic odyssey of patients with myotonic dystrophy
  Hilbert, J. E., Ashizawa, T., Day, J. W., Luebbe, E. A., Martens, W. B., McDermott, M. P., … Moxley, R. T. (2013). Diagnostic odyssey of patients with myotonic dystrophy. JOURNAL OF NEUROLOGY, 260(10), 2497–2504.
- Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy.
  Mourkioti, F., Kustan, J., Kraft, P., Day, J. W., Zhao, M.-M., Kost-Alimova, M., … Blau, H. M. (2013). Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. Nature Cell Biology, 15(8), 895–904.
- United Dystrophinopathy Project. LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
  United Dystrophinopathy Project. LTBP4 Genotype Predicts Age of Ambulatory Loss in Duchenne Muscular Dystrophy, (23440719).
- Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
  Couthouis, J., Raphael, A. R., Siskind, C., Findlay, A. R., Buenrostro, J. D., Greenleaf, W. J., … Gitler, A. D. (2014). Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscular Disorders , 24(5), 431–35.
- Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
  Raphael, A. R., Couthouis, J., Sakamuri, S., Siskind, C., Vogel, H., Day, J. W., & Gitler, A. D. (2014). Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. Brain Research, 1575, 66–71.
- Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy
  Mourkioti, F., Kustan, J., Kraft, P., Day, J. W., Zhao, M.-M., Kost-Alimova, M., … Blau, H. M. (2013). Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. NATURE CELL BIOLOGY, 15(8), 895–U300.
- OUTCOME RELIABILITY IN NON-AMBULATORY BOYS/MEN WITH DUCHENNE MUSCULAR DYSTROPHY
  Connolly, A. M., Malkus, E. C., Mendell, J. R., Flanigan, K. M., Miller, J. P., Schierbecker, J. R., … Florence, J. M. (2015). OUTCOME RELIABILITY IN NON-AMBULATORY BOYS/MEN WITH DUCHENNE MUSCULAR DYSTROPHY. MUSCLE & NERVE, 51(4), 522–32.
- ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY
  Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., … McDonald, C. M. (2014). ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY. MUSCLE & NERVE, 50(4), 477–487.
- One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development
  Connolly, A. M., Florence, J. M., Cradock, M. M., Eagle, M., Flanigan, K. M., McDonald, C. M., … Mendell, J. R. (2014). One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development. PEDIATRIC NEUROLOGY, 50(6), 557–563.
- Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1
  Wozniak, J. R., Mueller, B. A., Lim, K. O., Hemmy, L. S., & Day, J. W. (2014). Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1. JOURNAL OF THE NEUROLOGICAL SCIENCES, 341(1-2), 73–78.
- MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain
  Goodwin, M., Mohan, A., Batra, R., Lee, K.-Y., Charizanis, K., Gomez, F. J. F., … Swanson, M. S. (2015). MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain. CELL REPORTS, 12(7), 1159–68.
- New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1)
  GONZALEZ, I., Ohsawa, N., Singer, R. H., Devillers, M., Ashizawa, T., Balasubramanyam, A., … Mahadevan, M. S. (2000). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1(DM1). NEUROLOGY, 54(6), 1218–21.
- Clinical Phenotypes as Predictors of the Outcome of Skipping around DMD Exon 45
  Findlay, A. R., Wein, N., Kaminoh, Y., Taylor, L. E., Dunn, D. M., Mendell, J. R., … Flanigan, K. M. (2015). Clinical Phenotypes as Predictors of the Outcome of Skipping around DMD Exon 45. ANNALS OF NEUROLOGY, 77(4), 668–674.
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
  Sanmaneechai, O., Feely, S., Scherer, S. S., Herrmann, D. N., Burns, J., Muntoni, F., … Shy, M. E. (2015). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. BRAIN, 138.
- Adult-onset "infant" botulism: An unusual cause of weakness in the intensive care unit
  Li, L. Y. J., Kelkar, P., Exconde, R. E., Day, J., & Parry, G. J. (1999). Adult-onset "infant" botulism: An unusual cause of weakness in the intensive care unit. NEUROLOGY, 53(4), 891–891.
- CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
  Fridman, V., Bundy, B., Reilly, M. M., Pareyson, D., Bacon, C., Burns, J., … Shy, M. E. (2015). CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 86(8), 873–78.
- Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
  Turan, S., Farruggio, A. P., Srifa, W., Day, J. W., & Calos, M. P. (2016). Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. Molecular Therapy : the Journal of the American Society of Gene Therapy, 24(4), 685–96.
- A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy.
  Allen, H. D., Flanigan, K. M., Thrush, P. T., Dvorchik, I., Yin, H., Canter, C., … Mendell, J. R. (2013). A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy. PLoS Currents, 5.
- Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
  Freyermuth, F., Rau, F., Kokunai, Y., Linke, T., Sellier, C., Nakamori, M., … Charlet-Berguerand, N. (2016). Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. NATURE COMMUNICATIONS, 7.
- Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.
  Connolly, A. M., Florence, J. M., Zaidman, C. M., Golumbek, P. T., Mendell, J. R., Flanigan, K. M., … Miller, J. P. (2016). Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up. Muscle & Nerve, 54(4), 681–89.
- The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
  Harris, E., Bladen, C. L., Mayhew, A., James, M., Bettinson, K., Moore, U., … Bushby, K. (2016). The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurology. Genetics, 2(4).
- Suggests multiple causes of weakness in slow-channel syndrome
  GOMEZ, C. M., Maselli, R., Williams, J. M., Bhattacharyya, B. B., Wollmann, R. L., & Day, J. W. (1998). Suggests multiple causes of weakness in slow-channel syndrome. MYASTHENIA GRAVIS AND RELATED DISEASES, 841, 167–80.
- CLINICAL FOLLOW-UP FOR DUCHENNE MUSCULAR DYSTROPHY NEWBORN SCREENING: A PROPOSAL
  Kwon, J. M., Abdel-Hamid, H. Z., Al-Zaidy, S. A., Mendell, J. R., Kennedy, A., Kinnett, K., … Connolly, A. M. (2016). CLINICAL FOLLOW-UP FOR DUCHENNE MUSCULAR DYSTROPHY NEWBORN SCREENING: A PROPOSAL. MUSCLE & NERVE, 54(2), 186–91.
- Revised upper limb module for spinal muscular atrophy: Development of a new module.
  Mazzone, E. S., Mayhew, A., Montes, J., Ramsey, D., Fanelli, L., Dunaway Young, S., … Mercuri, E. (2016). Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle & Nerve.
- Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
  Pera, M. C., Coratti, G., Forcina, N., Mazzone, E. S., Scoto, M., Montes, J., … Mercuri, E. (2017). Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurology, 17(1), 39-?
- Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
  Sullivan, J. M., Zimanyi, C. M., Aisenberg, W., Bears, B., Chen, D.-hui, Day, J. W., … Sumner, C. J. (2015). Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurology. Genetics, 1(4).
- Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
  Finkel, R. S., Chiriboga, C. A., Vajsar, J., Day, J. W., Montes, J., De Vivo, D. C., … Bishop, K. M. (2016). Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. LANCET, 388(10063), 3017–26.
- Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
  Ramsey, D., Scoto, M., Mayhew, A., Main, M., Mazzone, E. S., Montes, J., … Muntoni, F. (2017). Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PloS One, 12(2).
- Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1.
  Cheung, J., Ruoff, C., Moore, H., Hagerman, K. A., Perez, J., Sakamuri, S., … Sampson, J. (2018). Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine, 14(2), 229–35.
- Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop
  Hesterlee, S., Amur, S., Bain, L. J., Carulli, J., Clarke, S., Day, J. W., … White, M. (2017). Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop. THERAPEUTIC INNOVATION & REGULATORY SCIENCE, 51(4), 516–22.
- Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
  Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., … Finkel, R. S. (2018). Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. NEW ENGLAND JOURNAL OF MEDICINE, 378(7), 625–35.
- Humanizing the mdx mouse model of DMD: the long and the short of it
  Yucel, N., Chang, A. C., Day, J. W., Rosenthal, N., & Blau, H. M. (2018). Humanizing the mdx mouse model of DMD: the long and the short of it. NPJ REGENERATIVE MEDICINE, 3, 4.
- The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year
  Mori-Yoshimura, M., Fernandez-Torron, R., Meredith, J., Jabobs, M., Smith, F., Azzabou, N., … Straub, V. (2017). The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year. JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, 819.
- rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
  Sellier, C., Cerro-Herreros, E., Blatter, M., Freyermuth, F., Gaucherot, A., Ruffenach, F., … Charlet-Berguerand, N. (2018). rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. NATURE COMMUNICATIONS, 9, 2009.
- Charcot Marie Tooth disease type 4J with complex central nervous system features
  Orengo, J. P., Khemani, P., Day, J. W., Li, J., & Siskind, C. E. (2018). Charcot Marie Tooth disease type 4J with complex central nervous system features. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 5(2), 222–25.
- Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination
  Hu, B., McCollum, M., Ravi, V., Arpag, S., Moiseev, D., Castoro, R., … Li, J. (2018). Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. ANNALS OF NEUROLOGY, 83(4), 756–70.
- Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
  McDonald, C. M., Henricson, E. K., Abresch, R. T., Duong, T., Joyce, N. C., Hu, F., … Gordish-Dressman, H. (2018). Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. LANCET, 391(10119), 451–61.
- Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.
  Salazar, R., Montes, J., Dunaway Young, S., McDermott, M. P., Martens, W., Pasternak, A., … De Vivo, D. C. (2018). Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association, 30(3), 209–15.
- Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
  Diaz-Manera, J., Fernandez-Torron, R., LLauger, J., James, M. K., Mayhew, A., Smith, F. E., … Straub, V. (2018). Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Journal of Neurology, Neurosurgery, and Psychiatry.
- Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
  Moore, U. R., Jacobs, M., Fernandez-Torron, R., Jang, J., James, M. K., Mayhew, A., … Straub, V. (2018). Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. Journal of Neurology, Neurosurgery, and Psychiatry.
- Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
  Montes, J., McDermott, M. P., Mirek, E., Mazzone, E. S., Main, M., Glanzman, A. M., … Mercuri, E. (2018). Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLOS ONE, 13(6), e0199657.
- Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy
  Tiet, M., Fernandez-Torron, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., … Straub, V. (2018). Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy. NEUROMUSCULAR DISORDERS, 28, S5–S6.
- Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures
  Fernandez-Torron, R., James, M. K., Mayhew, A., Eagle, M., Lofra, R. M., Diaz-Manera, J., … Straub, V. (2018). Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures. NEUROMUSCULAR DISORDERS, 28, S6–S7.
- Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?
  James, M. K., Jacobs, M., Mayhew, A., Feng, J., Spuler, S., Day, J. W., … Straub, V. (2018). Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients? NEUROMUSCULAR DISORDERS, 28, S6.
- Telomere shortening is a hallmark of genetic cardiomyopathies.
  Chang, A. C., Chang, A. C., Kirillova, A., Sasagawa, K., Su, W., Weber, G., … Blau, H. M. (2018). Telomere shortening is a hallmark of genetic cardiomyopathies. Proceedings of the National Academy of Sciences of the United States of America.
- RASCH ANALYSIS OF THE INDIVIDUALIZED NEUROMUSCULAR QUALITY OF LIFE QUESTIONNAIRE ADMINISTERED TO PATIENTS WITH DYSFERLINOPATHY
  Mayhew, A. G., James, M. K., Jacobs, M., Feng, J., Spuler, S., Day, J. W., … Straub, V. (2018). RASCH ANALYSIS OF THE INDIVIDUALIZED NEUROMUSCULAR QUALITY OF LIFE QUESTIONNAIRE ADMINISTERED TO PATIENTS WITH DYSFERLINOPATHY. MUSCLE & NERVE, 58, S20.
- A PHASE 2 CLINICAL TRIAL OF RELDESEMTIV, A FAST SKELETAL MUSCLE TROPONIN ACTIVATOR, FOR THE POTENTIAL TREATMENT OF SPINAL MUSCULAR ATROPHY (SMA)
  Rudnicki, S. A., Andrews, J. A., Malik, F. I., Meng, L., Wei, J., Wolff, A. A., & Day, J. W. (2018). A PHASE 2 CLINICAL TRIAL OF RELDESEMTIV, A FAST SKELETAL MUSCLE TROPONIN ACTIVATOR, FOR THE POTENTIAL TREATMENT OF SPINAL MUSCULAR ATROPHY (SMA). MUSCLE & NERVE. WILEY.
- Myelin Abnormality in Charcot-Marie-Tooth Type 4J Recapitulates Features of Acquired Demyelination
  Hu, B., McCollum, M., Ravi, V., Arpag, S., Moiseev, D., Castoro, R., … Li, J. (2018). Myelin Abnormality in Charcot-Marie-Tooth Type 4J Recapitulates Features of Acquired Demyelination. ANNALS OF NEUROLOGY. WILEY.
- Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
  Hahn, S. H., Kronn, D., Leslie, N. D., Pena, L. D. M., Tanpaiboon, P., Gambello, M. J., … Kishnani, P. S. (2018). Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. GENETICS IN MEDICINE, 20(10), 1284–94.
- Experience using Spinraza to treat adults with spinal muscular atrophy
  Day, J., Wolford, C., Macpherson, C., Hagerman, K., Paulose, S., Zeineh, M., … Duong, T. (2018). Experience using Spinraza to treat adults with spinal muscular atrophy. NEUROMUSCULAR DISORDERS, 28, S81.
- SMN protein levels before and after treatment with RG7916 in type 1, 2 and 3 SMA patients compared to healthy subjects
  Kletzl, H., Czech, C., Cleary, Y., Sturm, S., Gunther, A., Baranello, G., … Khwaja, O. (2018). SMN protein levels before and after treatment with RG7916 in type 1, 2 and 3 SMA patients compared to healthy subjects. NEUROMUSCULAR DISORDERS, 28, S109–S110.
- AVXS-101 gene replacement therapy for spinal muscular atrophy type 1: pivotal study (STRIVE) update
  Day, J., Feltner, D., Ogrinc, F., Macek, T., Wells, C., Muehring, L., … Mendell, J. (2018). AVXS-101 gene replacement therapy for spinal muscular atrophy type 1: pivotal study (STRIVE) update. NEUROMUSCULAR DISORDERS, 28, S82–S83.
- A study of RG7916 in infants with pre-symptomatic spinal muscular atrophy
  Bertini, E., Day, J., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., … Khwaja, O. (2018). A study of RG7916 in infants with pre-symptomatic spinal muscular atrophy. NEUROMUSCULAR DISORDERS, 28, S108–S109.
- FIREFISH Part 1: early clinical results following a significant increase of SMN protein in SMA type 1 babies treated with RG7916
  Baranello, G., Servais, L., Day, J., Deconinck, N., Mercuri, E., Klein, A., … Khwaja, O. (2018). FIREFISH Part 1: early clinical results following a significant increase of SMN protein in SMA type 1 babies treated with RG7916. NEUROMUSCULAR DISORDERS, 28, S109.
- Rasch analysis of the individualised neuromuscular Quality of Life Questionnaire administered to patients with dysferlinopathy
  James, M., Mayhew, A., Jacobs, M., Spuler, S., Day, J., Jones, K., … Straub, V. (2018). Rasch analysis of the individualised neuromuscular Quality of Life Questionnaire administered to patients with dysferlinopathy. NEUROMUSCULAR DISORDERS, 28, S35.
- Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients
  Fernandez-Torron, R., Diaz-Manera, J., James, M., Mayhew, A., Spuler, S., Day, J., … Straub, V. (2018). Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients. NEUROMUSCULAR DISORDERS, 28, S35.
- Clinical outcome study in dysferlinopathy: random forest approach to assess the relationship between baseline muscle MRI and longitudinal functional outcome measures
  Diaz-Manera, J., Fernandez-Torron, R., James, M., Mayhew, A., Jacobs, M., Spuler, S., … Straub, V. (2018). Clinical outcome study in dysferlinopathy: random forest approach to assess the relationship between baseline muscle MRI and longitudinal functional outcome measures. NEUROMUSCULAR DISORDERS, 28, S34–S35.
- Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids.
  McDonald, C. M., Gordish-Dressman, H., Henricson, E. K., Duong, T., Joyce, N. C., Jhawar, S., … Abresch, R. T. (2018). Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids. Neuromuscular Disorders : NMD, 28(11), 897–909.
- Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
  Wang, E. T., Treacy, D., Eichinger, K., Struck, A., Estabrook, J., Olafson, H., … Burge, C. (2018). Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. Human Molecular Genetics.
- Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study
  Mankodi, A., Statland, J., Eichinger, K., Dekdebrun, J., Day, J., Subramony, S., … Thornton, C. (2018). Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study. NEUROLOGY, 90.
- Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1)
  Thornton, C., Wang, W., Mankodi, A., Subramony, S., Ashizawa, T., Day, J., … Kissel, J. (2018). Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1). NEUROLOGY, 90.
- Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Feasibility for Individuals with Severe Spinal Muscular Atrophy II
  Kichula, E., Duong, T., Glanzman, A., Pasternak, A., Darras, B., Finkel, R., … Day, J. (2018). Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Feasibility for Individuals with Severe Spinal Muscular Atrophy II. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101
  Day, J. W., Chiriboga-Klein, C. A., Crawford, T., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2018). Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101. HUMAN GENE THERAPY, 29(12), A82–A83.
- Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study
  Lowes, L., James, M., Mayhew, A., Alfano, L., Jacobs, M., Spuler, S., … Straub, V. (2018). Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Nusinersen Efficacy in Adults with Spinal Muscular Atrophy
  Day, J., Wolford, C., MacPherson, C., Martens, W., McDermott, M., Darras, B., … Duong, T. (2018). Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy.
  Pacione, M., Siskind, C. E., Day, J. W., & Tabor, H. K. (2018). Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. Journal of Neuromuscular Diseases.
- Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
  Moore, U., Jacobs, M., James, M. K., Mayhew, A. G., Fernandez-Torron, R., Feng, J., … Straub, V. (2019). Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology.
- Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes.
  Pera, M. C., Coratti, G., Mazzone, E. S., Montes, J., Scoto, M., De Sanctis, R., … Mercuri, E. (2019). Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle & Nerve.
- Consensus-based care recommendations for adults with myotonic dystrophy type 1
  Ashizawa, T., Gagnon, C., Groh, W. J., Gutmann, L., Johnson, N. E., Meola, G., … Winblad, S. (2018). Consensus-based care recommendations for adults with myotonic dystrophy type 1. NEUROLOGY-CLINICAL PRACTICE, 8(6), 507–20.
- Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A.
  Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., … Zuchner, S. (2019). Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology.
- Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
  Panosyan, F. B., laura, M. D., Rossor, A. M., Pisciotta, C., Piscosquito, G., Burns, J., … Scherer, S. S. (2017). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). NEUROLOGY, 89(9), 927–35.
- Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy
  Torron, R. F., Harris, E., Bourke, J., Bettinson, K., Hilsden, H., Spuler, S., … Straub, V. (2017). Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy. NEUROMUSCULAR DISORDERS, 27, S145.
- Ataluren: An Overview of Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy
  McDonald, C., Bushby, K., Tulinius, M., Finkel, R., Topaloglu, H., Day, J., … Kirschner, J. (2016). Ataluren: An Overview of Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy. NEUROLOGY, 86.
- Study Design of a Phase 1/2a Trial with ISIS-DMPKRx for the Treatment of Myotonic Dystrophy Type 1
  Thornton, C., Moxley, R., Day, J., Ashizawa, T., Barohn, R., Leung, D., … Mignon, L. (2016). Study Design of a Phase 1/2a Trial with ISIS-DMPKRx for the Treatment of Myotonic Dystrophy Type 1. NEUROLOGY, 86.
- Should Motor Function Determine the Timing of Scoliosis Surgery in Spinal Muscular Atrophy (SMA)?
  Young, S. D., Montes, J., Salazar, R., Glanzman, A., Pasternak, A., Quigley, J., … De Vivo, D. (2016). Should Motor Function Determine the Timing of Scoliosis Surgery in Spinal Muscular Atrophy (SMA)? NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Interim Results of a Phase 2 Clinical Study of Nusinersen (ISIS-SMNRx) in Patients with Infantile-Onset Spinal Muscular Atrophy
  Finkel, R., Chiriboga, C., Vajsar, J., Day, J., Montes, J., De Vivo, D., … Bishop, K. (2016). Interim Results of a Phase 2 Clinical Study of Nusinersen (ISIS-SMNRx) in Patients with Infantile-Onset Spinal Muscular Atrophy. NEUROLOGY, 86.
- Evaluator Training and Reliability for SMA Global Nusinersen Trials1.
  Glanzman, A. M., Mazzone, E. S., Young, S. D., Gee, R., Rose, K., Mayhew, A., … Montes, J. (2018). Evaluator Training and Reliability for SMA Global Nusinersen Trials1. Journal of Neuromuscular Diseases, 5(2), 159–66.
- Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
  Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., … Jarecki, J. (2018). Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Journal of Neuromuscular Diseases, 5(2), 145–58.
- Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?
  James, M., Jacobs, M., Mayhew, A., Feng, J., Spuler, S., Day, J., … Straub, V. (2017). Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients? NEUROMUSCULAR DISORDERS, 27, S227.
- Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)
  Walker, G., Butterfield, R., Mathews, K., Servais, L., Day, J., Gidaro, T., … Maggi, L. (2017). Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003). NEUROMUSCULAR DISORDERS, 27, S199.
- DETERMINING THE PATHOGENICITY OF NEWLY IDENTIFIED ATP7A VARIANTS USING PRIMARY FIBROBLASTS
  Perez-Siles, G., Drew, A., Ellis, M., Kidambi, M., Takata, R., Speck-Martins, C. E., … Kennerson, M. L. (2017). DETERMINING THE PATHOGENICITY OF NEWLY IDENTIFIED ATP7A VARIANTS USING PRIMARY FIBROBLASTS. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 22(3), 357.
- Functional outcome measures and muscle MRI pattern recognition in dysferlinopathy: The JAIN COS Study
  Fernandez-Torron, R., James, M., Diaz Manera, J., Mayhew, A., Llauger Rosello, J., Moore, U., … Straub, V. (2017). Functional outcome measures and muscle MRI pattern recognition in dysferlinopathy: The JAIN COS Study. EUROPEAN JOURNAL OF NEUROLOGY, 24, 96–97.
- Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort
  Ramsey, D., Scoto, M., Mayhew, A., Main, M., Mazzone, E., Montes, J., … Muntoni, F. (2016). Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort. NEUROMUSCULAR DISORDERS, 26, S104.
- Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy?
  Young, S. D., Montes, J., Salazar, R., Glanzman, A., Pasternak, A., Quigley, J., … De Vivo, D. (2016). Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy? NEUROMUSCULAR DISORDERS, 26, S104.
- INFUSION-ASSOCIATED REACTIONS AND IMMUNOGENICITY IN THE ADVANCE STUDY OF ALGLUCOSIDASE ALFA PRODUCED AT 4000 L SCALE IN PATIENTS WITH POMPE DISEASE
  Kishnani, P. S., Hahn, S., Day, J. W., Gambello, M. J., Gibson, J. B., Hillman, R., … Pena, L. (2016). INFUSION-ASSOCIATED REACTIONS AND IMMUNOGENICITY IN THE ADVANCE STUDY OF ALGLUCOSIDASE ALFA PRODUCED AT 4000 L SCALE IN PATIENTS WITH POMPE DISEASE. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease
  Kishnani, P. S., Day, J. W., Gambello, M., Gibson, J. B., Hillman, R., Kronn, D., … Hahn, S. (2016). Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- 52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study
  Hahn, S., Pena, L., Day, J. W., Gambello, M., Gibson, J. B., Hillman, R., … Kishnani, P. S. (2016). 52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- PHENOTYPE-GENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF HERITABLE NEUROPATHIES CAUSED BY MUTATIONS IN THE MYELIN PROTEIN ZERO GENE
  Sanmaneechai, O., Feely, S., Scherer, S. S., Herrmann, D. N., Burns, J., Muntoni, F., … Shy, M. E. (2015). PHENOTYPE-GENOTYPE CHARACTERISTICS AND BASELINE NATURAL HISTORY OF HERITABLE NEUROPATHIES CAUSED BY MUTATIONS IN THE MYELIN PROTEIN ZERO GENE. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 20(2), 225–26.
- PULMONARY FUNCTION AND CMT: RESULTS FROM STANFORD HEALTHCARE
  Siskind, C. E., Day, J. W., & Zekos-Ortiz, K. (2015). PULMONARY FUNCTION AND CMT: RESULTS FROM STANFORD HEALTHCARE. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 20(2), 231.
- DISEASE PROGRESSION IN HEREDITARY NEUROPATHY: A LONGITUDINAL ANALYSIS OF DATA CONTAINED WITH THE INHERITED NEUROPATHIES CONSORTIUM NATURAL HISTORY STUDY
  Fridman, Sadjadi, R., Bundy, B., Sillau, S., Bacon, C., Burns, J., … Shy, M. E. (2015). DISEASE PROGRESSION IN HEREDITARY NEUROPATHY: A LONGITUDINAL ANALYSIS OF DATA CONTAINED WITH THE INHERITED NEUROPATHIES CONSORTIUM NATURAL HISTORY STUDY. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 20(2), 143–44.
- Results of a phase 2 open-label study of ISIS-SMNRx in patients with infantile (Type 1) spinal muscular atrophy
  Finkel, R. S., Day, J., Chiriboga, C., Vasjar, J., Cook, D., Watson, K., … Bishop, K. (2014). Results of a phase 2 open-label study of ISIS-SMNRx in patients with infantile (Type 1) spinal muscular atrophy. NEUROMUSCULAR DISORDERS, 24(9-10), 920.
- Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA-DMD Network
  Connolly, A. M., Malkus, E. C., Schierbecker, J. R., Siener, C. A., Anand, P., Mendell, J. R., … Florence, J. M. (2014). Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA-DMD Network. NEUROMUSCULAR DISORDERS, 24(9-10), 855–56.
- COMPLICATIONS OF PREGNANCY IN MYOTONIC DYSTROPHY
  Johnson, N. E., Franklin, J. D., Nasser, E., Luebbe, E., Hilbert, J., Hagerman, K. A., … Heatwole, C. R. (2014). COMPLICATIONS OF PREGNANCY IN MYOTONIC DYSTROPHY. MUSCLE & NERVE, 50, S3.
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
  Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., … Zuchner, S. (2019). Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases.
- Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop.
  Hesterlee, S., Amur, S., Bain, L. J., Carulli, J., Clarke, S., Day, J. W., … White, M. (2017). Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop. Therapeutic Innovation & Regulatory Science, 51(4), 516–522.
- MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain.
  Goodwin, M., Mohan, A., Batra, R., Lee, K.-Y. Y., Charizanis, K., Fernández Gómez, F. J., … Swanson, M. S. (2015). MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain. Cell Reports, 12(7), 1159–68.
- Assessment of disease progression in dysferlinopathy: A 1-year cohort study
  Moore, U., Jacobs, M., James, M. K., Mayhew, A. G., Fernandez-Torron, R., Feng, J., … Otero, H. J. (2019). Assessment of disease progression in dysferlinopathy: A 1-year cohort study. NEUROLOGY, 92(5), E461–E474.
- Telomere shortening is a hallmark of genetic cardiomyopathies
  Chang, A. C. Y., Chang, A. C. H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., … Blau, H. M. (2018). Telomere shortening is a hallmark of genetic cardiomyopathies. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 115(37), 9276–81.
- Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
  Kishnani, P. S., Gibson, J. B., Gambello, M. J., Hillman, R., Stockton, D. W., Kronn, D., … Hahn, S. H. (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics.
- AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update
  Shell, R., Day, J., Chiriboga, C., Crawford, T. O., Darras, B. T., Finkel, R., … Mendell, J. R. (2019). AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 199.
- Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
  Wang, E. T., Treacy, D., Eichinger, K., Struck, A., Estabrook, J., Olafson, H., … Burge, C. (2019). Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. HUMAN MOLECULAR GENETICS, 28(8), 1312–21.
- Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.
  Conrado, D. J., Larkindale, J., Berg, A., Hill, M., Burton, J., Abrams, K. R., … Romero, K. (2019). Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy. Journal of Pharmacokinetics and Pharmacodynamics.
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
  Tao, F., Beecham, G. W., Rebelo, A. P., Svaren, J., Blanton, S. H., Moran, J. J., … Bis, D. (2019). Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. ANNALS OF NEUROLOGY, 85(3), 316–30.
- Revised upper limb module for spinal muscular atrophy: 12 month changes
  Pera, M. C., Coratti, G., Mazzone, E. S., Montes, J., Scoto, M., De Sanctis, R., … Antonaci, L. (2019). Revised upper limb module for spinal muscular atrophy: 12 month changes. MUSCLE & NERVE, 59(4), 426–30.
- Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
  Moore, U. R., Jacobs, M., Fernandez-Torron, R., Jang, J., James, M. K., Mayhew, A., … Straub, V. (2018). Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 89(11), 1224-+.
- Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function
  Salazar, R., Montes, J., Young, S. D., McDermott, M. P., Martens, W., Pasternak, A., … De Vivo, D. C. (2018). Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. PEDIATRIC PHYSICAL THERAPY, 30(3), 209–15.
- Nusinersen experience in teenagers and young adults with spinal muscular atrophy (SMA): Results from CS2/CS12 and SHINE
  Deconinck, N., Darras, B. T., Day, J. W., Chiriboga, C. A., Iannaccone, S. T., Swoboda, K. J., … De Vivo, D. C. (2019). Nusinersen experience in teenagers and young adults with spinal muscular atrophy (SMA): Results from CS2/CS12 and SHINE. EUROPEAN JOURNAL OF NEUROLOGY, 26, 143–44.
- AVXS-101 gene replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal studies clinical update (STR1VE-EU and STR1VE)
  Mercuri, E., Baranello, G., Day, J. W., Bruno, C., Corti, S., Chiriboga, C. A., … Muntoni, F. (2019). AVXS-101 gene replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal studies clinical update (STR1VE-EU and STR1VE). EUROPEAN JOURNAL OF NEUROLOGY, 26, 224–25.
- RAINBOWFISH: a study of risdiplam (RG7916) in infants with pre-symptomatic spinal muscular atrophy (SMA)
  Bertini, E., Day, J. W., Al Muhaizea, M., Xiong, H., Servais, L., Prufer, A., … Khwaja, O. (2019). RAINBOWFISH: a study of risdiplam (RG7916) in infants with pre-symptomatic spinal muscular atrophy (SMA). EUROPEAN JOURNAL OF NEUROLOGY, 26, 445.
- The RESTORE Registry: a resource for measuring and improving Spinal Muscular Atrophy (SMA) outcomes
  Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. S. (2019). The RESTORE Registry: a resource for measuring and improving Spinal Muscular Atrophy (SMA) outcomes. EUROPEAN JOURNAL OF NEUROLOGY, 26, 437.
- FIREFISH Part 1: survival, ventilation and swallowing ability in infants with type 1 spinal muscular atrophy (SMA) treated with risdiplam (RG7916)
  Vlodavets, D., Servais, L., Baranello, G., Day, J. W., Deconinck, N., Mercuri, E., … Khwaja, O. (2019). FIREFISH Part 1: survival, ventilation and swallowing ability in infants with type 1 spinal muscular atrophy (SMA) treated with risdiplam (RG7916). EUROPEAN JOURNAL OF NEUROLOGY, 26, 310–11.
- Nusinersen Efficacy in Adults with Spinal Muscular Atrophy
  Day, J., Wolford, C., MacPherson, C., Martens, W., McDermott, M., Darras, B., … Duong, T. (2019). Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- FIREFISH Part 1: 1-Year Results on Motor Function in Babies with Type 1 SMA
  Baranello, G., Servais, L., Day, J. W., Deconinck, N., Mercuri, E., Klein, A., … Khwaja, O. (2019). FIREFISH Part 1: 1-Year Results on Motor Function in Babies with Type 1 SMA. NEUROLOGY, 92(15).
- FIREFISH Part 1: Survival, Ventilation and Swallowing Ability in Infants with Type 1 SMA Receiving Risdiplam (RG7916)
  Servais, L., Baranello, G., Day, J. W., Deconinck, N., Mercuri, E., Klein, A., … Khwaja, O. (2019). FIREFISH Part 1: Survival, Ventilation and Swallowing Ability in Infants with Type 1 SMA Receiving Risdiplam (RG7916). NEUROLOGY, 92(15).
- AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update
  Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2019). AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update. NEUROLOGY, 92(15).
- Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening
  Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., … Jarecki, J. (2019). Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy Through Newborn Screening. NEUROLOGY, 92(15).
- Phase 1 Study of Intrathecal Administration of AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 2 (SMA2) (STRONG)
  Finkel, R. S., Day, J. W., Darras, B. T., Kuntz, N. L., Connolly, A. M., Crawford, T., … Mendell, J. R. (2019). Phase 1 Study of Intrathecal Administration of AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 2 (SMA2) (STRONG). NEUROLOGY, 92(15).
- Long-term Outcomes After Low Power, Slower Movement versus High Power, Faster Movement Irrigated-Tip Catheter Ablation for Atrial Fibrillation.
  Bunch, T. J., May, H. T., Bair, T. L., Crandall, B. G., Cutler, M. J., Mallender, C., … Day, J. D. (2019). Long-term Outcomes After Low Power, Slower Movement versus High Power, Faster Movement Irrigated-Tip Catheter Ablation for Atrial Fibrillation. Heart Rhythm.
- Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update
  Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2019). Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 90(E7).
- The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA
  Ramsey, D., Scoto, M., Mayhew, A., Lofra, R. M., Main, M., Milev, E., … Muntoni, F. (2019). The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA. NEUROMUSCULAR DISORDERS, 29, S131.
- Trajectories of disease progression in ambulant and non ambulant SMA: 12 month follow-up
  Mercuri, E., Coratti, G., Pera, M., Scoto, M., Goemans, N., Pane, M., … Muntoni, F. (2019). Trajectories of disease progression in ambulant and non ambulant SMA: 12 month follow-up. NEUROMUSCULAR DISORDERS, 29, S131.
- The RESTORE registry: a resource for measuring and improving spinal muscular atrophy (SMA) outcomes
  Servais, L., Day, J., De Vivo, D., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. (2019). The RESTORE registry: a resource for measuring and improving spinal muscular atrophy (SMA) outcomes. NEUROMUSCULAR DISORDERS, 29, S195.
- FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy
  Baranello, G., Servais, L., Day, J., Deconinck, N., Mercuri, E., Klein, A., … Gorni, K. (2019). FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy. NEUROMUSCULAR DISORDERS, 29, S184.
- Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy Type 1 (SMA1): Pivotal phase 3 study (STR1VE) update
  Day, J., Chiriboga, C., Crawford, T., Darras, B., Finkel, R., Connolly, A., … Mendell, J. (2019). Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy Type 1 (SMA1): Pivotal phase 3 study (STR1VE) update. NEUROMUSCULAR DISORDERS, 29, S183.
- Functional progression in dysferlinopathy: results of a 3-year natural history study
  Jacobs, M., James, M., Mayhew, A., Hilsden, H., Sutherland, H., Spuler, S., … Straub, V. (2019). Functional progression in dysferlinopathy: results of a 3-year natural history study. NEUROMUSCULAR DISORDERS, 29, S102.
- JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen
  Chiriboga, C., Mercuri, E., Fischer, D., Day, J., Kraus, D., Yeung, W., … Gorni, K. (2019). JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen. NEUROMUSCULAR DISORDERS, 29, S187.
- Intrathecal administration of onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): phase 1/2a study (STRONG)
  Finkel, R., Day, J., Darras, B., Kuntz, N., Connolly, A., Crawford, T., … Mendell, J. (2019). Intrathecal administration of onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): phase 1/2a study (STRONG). NEUROMUSCULAR DISORDERS, 29, S207.
- Measuring what matters in dysferlinopathy - linking functional ability to patient reported outcome measures
  Mayhew, A., James, M., Hilsden, H., Sutherland, H., Jacobs, M., Spuler, S., … Straub, V. (2019). Measuring what matters in dysferlinopathy - linking functional ability to patient reported outcome measures. NEUROMUSCULAR DISORDERS, 29, S100.
- A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study
  Hilsden, H., Moore, U., Cox, D., Day, J., Jones, K., Bharucha-Goebel, D., … Straub, V. (2019). A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study. NEUROMUSCULAR DISORDERS, 29, S98.
- RAINBOWFISH: A study of risdiplam (RG7916) in newborns with pre-symptomatic spinal muscular atrophy (SMA)
  Bertini, E., Day, J., Muhaizea, M., Xiong, H., Servais, L., Prufer, A., … Gorni, K. (2019). RAINBOWFISH: A study of risdiplam (RG7916) in newborns with pre-symptomatic spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS, 29, S187.
- The clinical outcome study for dysferlinopathy: pregnancy in dysferlinopathy
  Moore, U., James, M., Jacobs, M., Mayhew, A., Spuler, S., Day, J., … Straub, V. (2019). The clinical outcome study for dysferlinopathy: pregnancy in dysferlinopathy. NEUROMUSCULAR DISORDERS, 29, S104.
- Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101
  Day, J. W., Chiriboga-Klein, C. A., Crawford, T., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2018). Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101. HUMAN GENE THERAPY, 29(12), A82–A83.
- Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
  Kishnani, P. S., Gibson, J. B., Gambello, M. J., Hillman, R., Stockton, D. W., Kronn, D., … Hahn, S. H. (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. GENETICS IN MEDICINE, 21(11), 2543–51.
- Adeno-associated virus serotype 9 (AAV9) antibodies in patients with spinal muscular atrophy (SMA) screened for treatment with onasemnogene abeparvovec
  Day, J. W., Finkel, R. S., Mercuri, E., Swoboda, K. J., Meriggioli, M., Kernbauer, E., … Mendell, J. R. (2019). Adeno-associated virus serotype 9 (AAV9) antibodies in patients with spinal muscular atrophy (SMA) screened for treatment with onasemnogene abeparvovec. HUMAN GENE THERAPY, 30(11), A96.
- Adeno-Associated Virus Serotype 9 (AAV9) Antibodies in Patients With Spinal Muscular Atrophy (SMA) Screened for Treatment With Gene-Replacement Therapy (GRT) Onasemnogene Abeparvovec
  Day, J., Finkel, R., Mercuri, E., Swoboda, K., Kernbauer, E., Ogrinc, F., … Mendell, J. (2019). Adeno-Associated Virus Serotype 9 (AAV9) Antibodies in Patients With Spinal Muscular Atrophy (SMA) Screened for Treatment With Gene-Replacement Therapy (GRT) Onasemnogene Abeparvovec. ANNALS OF NEUROLOGY, 86, S121.
- Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update
  Day, J., Chiriboga, C., Crawford, T., Darras, B., Finkel, R., Connolly, A., … Mendell, J. (2019). Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update. ANNALS OF NEUROLOGY, 86, S118–S121.
- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
  Fridman, V., Sillau, S., Acsadi, G., Bacon, C., Dooley, K., Burns, J., … Shy, M. E. (2020). A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology.
- RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.
  Finkel, R. S., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Servais, L. (2020). RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. Journal of Neuromuscular Diseases.
- Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.
  Glascock, J., Sampson, J., Connolly, A. M., Darras, B. T., Day, J. W., Finkel, R., … Jarecki, J. (2020). Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. Journal of Neuromuscular Diseases.
- Intrathecal administration of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): Phase 1/2A study (strong)
  Finkel, R. S., Day, J. W., Darras, B. T., Kuntz, N. L., Connolly, A. M., Crawford, T. O., … Mendell, J. R. (2019). Intrathecal administration of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): Phase 1/2A study (strong). JOURNAL OF THE NEUROLOGICAL SCIENCES, 405.
- The restore registry: A resource for measuring and improving spinal muscular atrophy outcomes
  Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. S. (2019). The restore registry: A resource for measuring and improving spinal muscular atrophy outcomes. JOURNAL OF THE NEUROLOGICAL SCIENCES, 405.
- Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): Global pivotal phase 3 study program (STR1VE-US, STR1VE-EU, STR1VE-AP)
  Mercuri, E., Baranello, G., Day, J. W., Bruno, C., Corti, S., Chiriboga, C. A., … Muntoni, F. (2019). Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): Global pivotal phase 3 study program (STR1VE-US, STR1VE-EU, STR1VE-AP). JOURNAL OF THE NEUROLOGICAL SCIENCES, 405.
- AVXS-101 PHASE 3 STUDY IN SPINAL MUSCULAR ATROPHY TYPE 1
  Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2019). AVXS-101 PHASE 3 STUDY IN SPINAL MUSCULAR ATROPHY TYPE 1. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 90(12), E69.
- Descriptive analysis of varying real-world treatment patterns and outcomes in patients with spinal muscular atrophy collected from the RESTORE registry
  Finkel, R. S., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Servais, L. (2020). Descriptive analysis of varying real-world treatment patterns and outcomes in patients with spinal muscular atrophy collected from the RESTORE registry. EUROPEAN JOURNAL OF NEUROLOGY, 27, 620–21.
- SUNFISH Part 2: Efficacy and safety of risdiplam (RG7916) in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA)
  Mercuri, E., Barisic, N., Boespflug-Tanguy, O., Day, J. W., Deconinck, N., Kostera-Pruszczyk, A., … Vuillerot, C. (2020). SUNFISH Part 2: Efficacy and safety of risdiplam (RG7916) in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA). EUROPEAN JOURNAL OF NEUROLOGY, 27, 869.
- The Impact of Repeated Cardioversions and Escalation of Rhythm Control Therapies on Atrial Fibrillation Patients.
  Jacobs, V., May, H. T., Bair, T. L., Weiss, J. P., Day, J. D., Crandall, B. G., … Bunch, T. J. (2018). The Impact of Repeated Cardioversions and Escalation of Rhythm Control Therapies on Atrial Fibrillation Patients. CIRCULATION, 138.
- Accelerated Aging in Duchenne Cardiomyopathy
  Chang, A. C., Pardon, G., Chang, A. C., Day, J. W., Wu, J. C., Pruitt, B., & Blau, H. M. (2018). Accelerated Aging in Duchenne Cardiomyopathy. CIRCULATION. LIPPINCOTT WILLIAMS & WILKINS.
- Procedural Patterns and Safety of Atrial Fibrillation Ablation: Findings from Get with The Guidelines-Atrial Fibrillation.
  Loring, Z., Holmes, D. J. N., Matsouaka, R. A., Curtis, A. B., Day, J. D., Desai, N., … Piccini, J. P. (2020). Procedural Patterns and Safety of Atrial Fibrillation Ablation: Findings from Get with The Guidelines-Atrial Fibrillation. Circulation. Arrhythmia and Electrophysiology.
- Real-World Treatment Patterns and Outcomes in Patients with Spinal Muscular Atrophy Collected from the RESTORE Registry
  Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. S. (2020). Real-World Treatment Patterns and Outcomes in Patients with Spinal Muscular Atrophy Collected from the RESTORE Registry. NEUROLOGY, 94(15).
- Longer-term Experience with Nusinersen in Teenagers and Young Adults with Spinal Muscular Atrophy: Results from the CS2/CS12 and SHINE Studies
  Day, J. W., Swoboda, K. J., Darras, B. T., Chiriboga, C. A., Iannaccone, S. T., De Vivo, D. C., … Farwell, W. (2020). Longer-term Experience with Nusinersen in Teenagers and Young Adults with Spinal Muscular Atrophy: Results from the CS2/CS12 and SHINE Studies. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants with Spinal Muscular Atrophy; Study Design of the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen
  Finkel, R. S., Day, J. W., Mitchell-Sweeney, N., Foster, R., Sun, P., Bhan, I., … Farwell, W. (2020). Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants with Spinal Muscular Atrophy; Study Design of the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update
  Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., Connolly, A. M., … Mendell, J. R. (2020). Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update. NEUROLOGY, 94(15).
- Pooled Safety Data from the Risdiplam (RG7916) Clinical Trial Development Program
  Baranello, G., Bertini, E., Chiriboga, C., Darras, B. T., Day, J. W., Deconinck, N., … Scalco, R. (2020). Pooled Safety Data from the Risdiplam (RG7916) Clinical Trial Development Program. NEUROLOGY, 94(15).
- JEWELFISH: Safety and Pharmacodynamic Data in Non-Naive Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (RG7916)
  Chiriboga, C., Bruno, C., Day, J. W., Duong, T., Fischer, D., Kirschner, J., … Mercuri, E. (2020). JEWELFISH: Safety and Pharmacodynamic Data in Non-Naive Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (RG7916). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- One-Time Intrathecal (IT) Administration of AVXS-101 IT Gene-Replacement Therapy for Spinal Muscular Atrophy: Phase 1 Study (STRONG)
  Finkel, R. S., Day, J. W., Darras, B. T., Kuntz, N. L., Connolly, A. M., Crawford, T., … Mendell, J. R. (2020). One-Time Intrathecal (IT) Administration of AVXS-101 IT Gene-Replacement Therapy for Spinal Muscular Atrophy: Phase 1 Study (STRONG). NEUROLOGY, 94(15).
- SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA)
  Mercuri, E., Barisic, N., Boespflug-Tanguy, O., Deconinck, N., Kostera-Pruszczyk, A., Masson, R., … Day, J. W. (2020). SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA). NEUROLOGY, 94(15).
- Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
  Jayakody, H., Zarei, S., Nguyen, H., Dalton, J., Chen, K., Hudgins, L., … Moore, S. A. (2020). Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). Journal of Neuropathology and Experimental Neurology.
- Gain and loss of abilities in type II SMA: A 12-month natural history study.
  Coratti, G., Lucibello, S., Pera, M. C., Duong, T., Muni Lofra, R., Civitello, M., … Mercuri, E. (2020). Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscular Disorders : NMD.
- Clinical variability in spinal muscular atrophy type III.
  Coratti, G., Messina, S., Lucibello, S., Pera, M. C., Montes, J., Pasternak, A., … Mercuri, E. (2020). Clinical variability in spinal muscular atrophy type III. Annals of Neurology.
- Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1: Pulmonary and Ventilatory Findings from the Pivotal Phase 3 US Study (STR1VE)
  Shell, R., Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., … Mendell, J. R. (2020). Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1: Pulmonary and Ventilatory Findings from the Pivotal Phase 3 US Study (STR1VE). AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 201.
- ONASEMNOGENE ABEPARVOVEC GENE-REPLACEMENT THERAPY (GRT) FOR SPINAL MUSCULAR ATROPHY TYPE 1 (SMA1): PRELIMINARY PULMONARY AND VENTILATORY FINDINGS FROM THE PHASE 3 STUDY (STR1VE)
  Shell, R., Day, J. W., Chiriboga, C. A., Crawford, T. O., Darras, B. T., Finkel, R. S., … Mendell, J. R. (2019). ONASEMNOGENE ABEPARVOVEC GENE-REPLACEMENT THERAPY (GRT) FOR SPINAL MUSCULAR ATROPHY TYPE 1 (SMA1): PRELIMINARY PULMONARY AND VENTILATORY FINDINGS FROM THE PHASE 3 STUDY (STR1VE). THORAX, 74, A42.
- Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks.
  Kamali, T., Hagerman, K. A., Day, J. W., Sampson, J., Lim, K. O., Mueller, B. A., & Wozniak, J. (2020). Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2020, 1714–17.
- Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study.
  Trucco, F., Ridout, D., Scoto, M., Coratti, G., Main, M. L., Lofra, R. M., … Muntoni, F. (2020). Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study. Neurology.
- The revised Hammersmith scale for spinal muscular atrophy: reliability, validity and results from a large international pilot
  Ramsey, D., Scoto, M., Mayhew, A., Main, M., Mazzone, E., Montes, J., … Muntoni, F. (2016). The revised Hammersmith scale for spinal muscular atrophy: reliability, validity and results from a large international pilot. NEUROMUSCULAR DISORDERS, 26, S40.
- Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls.
  Ruoff, C., Cheung, J., Perez, J., Sakamuri, S., Mignot, E., Day, J., & Sampson, J. (2017). Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Switching between disease-modifying therapies in patients with spinal muscular atrophy: real-world data collected from the RESTORE Registry
  Servais, L., Day, J., De Vivo, D., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. (2020). Switching between disease-modifying therapies in patients with spinal muscular atrophy: real-world data collected from the RESTORE Registry. NEUROMUSCULAR DISORDERS, 30, S97.
- Analysis of Cobb angle and clinical characteristics in children with spinal muscular atrophy who enrolled in CHERISH and SHINE
  Young, S. D., Montes, J., Glanzman, A., Gee, R., Day, J., Finkel, R., … Berger, Z. (2020). Analysis of Cobb angle and clinical characteristics in children with spinal muscular atrophy who enrolled in CHERISH and SHINE. NEUROMUSCULAR DISORDERS, 30, S70.
- FIREFISH Parts 1 and 2: 12-month pooled safety and efficacy outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA)
  Servais, L., Bloespflug-Tanguy, O., Darras, B., Day, J., Deconinck, N., Klein, A., … Baranello, G. (2020). FIREFISH Parts 1 and 2: 12-month pooled safety and efficacy outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS, 30, S126.
- Nusinersen in adolescents and young adults with SMA: Longitudinal experience from an expanded cohort of CS2/CS12 and SHINE participants
  Darras, B., Day, J., Swoboda, K., Chiriboga, C., Iannaccone, S., De Vivo, D., … Farwell, W. (2020). Nusinersen in adolescents and young adults with SMA: Longitudinal experience from an expanded cohort of CS2/CS12 and SHINE participants. NEUROMUSCULAR DISORDERS, 30, S120.
- FIREFISH Part 1: 24-month safety and exploratory outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA)
  Baranello, G., Bloespflug-Tanguy, O., Darras, B., Day, J., Deconinck, N., Klein, A., … Servais, L. (2020). FIREFISH Part 1: 24-month safety and exploratory outcomes of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS, 30, S122.
- SUNFISH Part 1: 24-month safety and exploratory outcomes of risdiplam (RG7916) treatment in patients with Type 2 or 3 spinal muscular atrophy (SMA)
  Day, J., Baranello, G., Boespflug-Tanguy, O., Borell, S., Goemans, N., Kirschner, J., … Mercuri, E. (2020). SUNFISH Part 1: 24-month safety and exploratory outcomes of risdiplam (RG7916) treatment in patients with Type 2 or 3 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS, 30, S123.
- Escalating dose and randomized, controlled study of high-dose nusinersen in SMA; study design and updated enrollment for the DEVOTE Study
  Finkel, R., Day, J., Ryan, M., Mercuri, E., De Vivo, D., Pascual, S. P., … Farwell, W. (2020). Escalating dose and randomized, controlled study of high-dose nusinersen in SMA; study design and updated enrollment for the DEVOTE Study. NEUROMUSCULAR DISORDERS, 30, S124.
- One-time administration of AVXS-101 intrathecal (IT) for spinal muscular atrophy in the phase 1 study (STRONG): safety report
  Chand, D., Finkel, R., Day, J., Darris, B., Kuntz, N., Connolly, A., … Mendell, J. (2020). One-time administration of AVXS-101 intrathecal (IT) for spinal muscular atrophy in the phase 1 study (STRONG): safety report. NEUROMUSCULAR DISORDERS, 30, S120.
- Development and Validation of the Pediatric CMT Quality of Life Outcome Measure.
  Ramchandren, S., Wu, T. T., Finkel, R. S., Siskind, C. E., Feely, S. M., Burns, J., … Shy, M. E. (2020). Development and Validation of the Pediatric CMT Quality of Life Outcome Measure. Annals of Neurology.
- Author Correction: Humanizing the mdx mouse model of DMD: the long and the short of it.
  Yucel, N., Chang, A. C., Day, J. W., Rosenthal, N., & Blau, H. M. (2020). Author Correction: Humanizing the mdx mouse model of DMD: the long and the short of it. NPJ Regenerative Medicine, 5(1), 25.
- Determining An Appropriate Cardiopulmonary Exercise Testing Protocol For Individuals With Neuromuscular Disease
  Duong, T., Day, J., Dunaway-Young, S., & Stevens, V. (2020). Determining An Appropriate Cardiopulmonary Exercise Testing Protocol For Individuals With Neuromuscular Disease. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE. LIPPINCOTT WILLIAMS & WILKINS.
- Deep phenotypic dissection and natural history of a large multicentre CMT2A cohort
  Pipis, M., Feely, S., Skorupinska, M., Polke, J., Quiros, L. P., Laura, M. D., … Reilly, M. (2020). Deep phenotypic dissection and natural history of a large multicentre CMT2A cohort. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. WILEY.
- Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.
  Moore, U., Jacobs, M., Fernandez-Torron, R., LLauger Rossello, J., Smith, F. E., James, M., … Diaz-Manera, J. (2020). Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy. Frontiers in Neurology, 11, 613446.
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
  Pipis, M., Feely, S. M., Polke, J. M., Skorupinska, M., Perez, L., Shy, R. R., … Reilly, M. M. (2021). Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a Journal of Neurology.
- Reliability of functional outcome measures in spinal muscular atrophy: Results from multi-centered, global, phase 3 clinical trials
  Glanzman, A., Mazzone, E., Young, S. D., Gee, R., Rose, K. C., Mayhew, A., … Montes, J. (2017). Reliability of functional outcome measures in spinal muscular atrophy: Results from multi-centered, global, phase 3 clinical trials. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Transcriptome alterations in myotonic dystrophy frontal cortex.
  Otero, B. A., Poukalov, K., Hildebrandt, R. P., Thornton, C. A., Jinnai, K., Fujimura, H., … Wang, E. T. (2021). Transcriptome alterations in myotonic dystrophy frontal cortex. Cell Reports, 34(3), 108634.
- Assessing Dysferlinopathy Patients Over Three Years With A New Motor Scale.
  Jacobs, M., James, M. K., Lowes, L. P., Alfano, L. N., Eagle, M., Lofra, R. M., … Straub, V. (2021). Assessing Dysferlinopathy Patients Over Three Years With A New Motor Scale. Annals of Neurology.
- Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
  Moore, U., Gordish, H., Diaz-Manera, J., James, M. K., Mayhew, A. G., Guglieri, M., … Straub, V. (2021). Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscular Disorders : NMD.
- Risdiplam in Type 1 Spinal Muscular Atrophy.
  Baranello, G., Darras, B. T., Day, J. W., Deconinck, N., Klein, A., Masson, R., … Servais, L. (2021). Risdiplam in Type 1 Spinal Muscular Atrophy. The New England Journal of Medicine.
- Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
  Rudnicki, S. A., Andrews, J. A., Duong, T., Cockroft, B. M., Malik, F. I., Meng, L., … Day, J. W. (2021). Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics.
- Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients
  Kishnani, P. S., Attarian, S., Borges, J. L., Bouhourd, F., Chien, Y.-H., Choi, Y.-C., … Schoser, B. (2021). Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- A phase I/II open-label gene replacement clinical study for late onset Pompe disease
  Day, J. W., Mozaffar, T., Foo, C. W. P., Bachtell, N., & Conner, E. (2021). A phase I/II open-label gene replacement clinical study for late onset Pompe disease. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks
  Kamali, T., Hagerman, K. A., Day, J. W., Sampson, J., Lim, K. O., Mueller, B. A., & Wozniak, J. (2020). Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. 42ND ANNUAL INTERNATIONAL CONFERENCES OF THE IEEE ENGINEERING IN MEDICINE AND BIOLOGY SOCIETY: ENABLING INNOVATIVE TECHNOLOGIES FOR GLOBAL HEALTHCARE EMBC'20. IEEE.
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.
  Day, J. W., Finkel, R. S., Chiriboga, C. A., Connolly, A. M., Crawford, T. O., Darras, B. T., … Mendell, J. R. (2021). Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. The Lancet. Neurology, 20(4), 284–93.
- Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec.
  Day, J. W., Finkel, R. S., Mercuri, E., Swoboda, K. J., Menier, M., van Olden, R., … Mendell, J. R. (2021). Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec. Molecular Therapy. Methods & Clinical Development, 21, 76–82.
- Exome testing most useful for people with recessive CMT
  Siskind, C., Sampson, J., Goyal, N., Rocha, A. C. T., & Day, J. (2021). Exome testing most useful for people with recessive CMT. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. WILEY.
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
  Day, J. W., Finkel, R. S., Chiriboga, C. A., Connolly, A. M., Crawford, T. O., Darras, B. T., … Mendell, J. R. (2021). Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. LANCET NEUROLOGY, 20(4), 284–93.
- Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes.
  Chang, A. C., Pardon, G., Chang, A. C., Wu, H., Ong, S.-G., Eguchi, A., … Blau, H. M. (2021). Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes. Stem Cell Reports.
- Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.
  Finkel, R. S., Chiriboga, C. A., Vajsar, J., Day, J. W., Montes, J., De Vivo, D. C., … Farwell, W. (2021). Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study. The Lancet. Child & Adolescent Health.
- Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.
  Coratti, G., Pane, M., Lucibello, S., Pera, M. C., Pasternak, A., Montes, J., … Mercuri, E. (2021). Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen. Neuromuscular Disorders : NMD.
- Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
  Pera, M. C., Coratti, G., Bovis, F., Pane, M., Pasternak, A., Montes, J., … Mercuri, E. (2021). Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. Annals of Clinical and Translational Neurology.
- Advances in the therapy of Spinal Muscular Atrophy.
  Klotz, J., Rocha, C. T., Young, S. D., Duong, T., Buu, M. M., Sampson, J., & Day, J. W. (2021). Advances in the therapy of Spinal Muscular Atrophy. The Journal of Pediatrics.
- Pooled safety data from the risdiplam clinical trial development program
  Servais, L., Baranello, G., Bertini, E., Chiriboga, C., Darras, B. T., Day, J. W., … Mercuri, E. (2021). Pooled safety data from the risdiplam clinical trial development program. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- SUNFISH Part 2: 24-month efficacy and safety of risdiplam in patients with Type 2 or non-ambulant Type 3 SMA
  Nascimento, A., Day, J. W., Deconinck, N., Mazzone, E., Oskoui, M., Saito, K., … Mercuri, E. (2021). SUNFISH Part 2: 24-month efficacy and safety of risdiplam in patients with Type 2 or non-ambulant Type 3 SMA. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- FIREFISH Parts 1 and 2: 24-Month Safety and Efficacy of Risdiplam in Type 1 SMA
  Masson, R., Boespflug-Tanguy, O., Darras, B. T., Day, J. W., Deconinck, N., Klein, A., … Baranello, G. (2021). FIREFISH Parts 1 and 2: 24-Month Safety and Efficacy of Risdiplam in Type 1 SMA. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
  Coratti, G., Pera, M. C., Montes, J., Pasternak, A., Scoto, M., Baranello, G., … Mercuri, E. (2021). Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle & Nerve.
- Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
  Day, J. W., Mendell, J. R., Mercuri, E., Finkel, R. S., Strauss, K. A., Kleyn, A., … Chand, D. H. (2021). Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Safety.
- Nusinersen Treatment in Adults With Spinal Muscular Atrophy.
  Duong, T., Wolford, C., McDermott, M. P., Macpherson, C. E., Pasternak, A., Glanzman, A. M., … Day, J. W. (2021). Nusinersen Treatment in Adults With Spinal Muscular Atrophy. Neurology. Clinical Practice, 11(3), e317–e327.
- Disease progression in Charcot-Marie-Tooth disease related to MPZ mutations: A longitudinal study using rasch analysis-based weighted CMT examination
  Fridman, V., Sillau, S., Bockhorst, J., Smith, K., Moroni, I., Pagliano, E., … Shy, M. (2021). Disease progression in Charcot-Marie-Tooth disease related to MPZ mutations: A longitudinal study using rasch analysis-based weighted CMT examination. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. WILEY.
- Quality of life in dysferlinopathy can be good despite poor function
  Moore, U., James, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., … Mayhew, A. (2021). Quality of life in dysferlinopathy can be good despite poor function. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Apitegromab in SMA: an analysis of multiple endpoints and PD relationships to efficacy in the TOPAZ trial
  Crawford, T., Darras, B., Day, J., Nomikos, G., Song, G., Place, A., … Chyung, Y. (2021). Apitegromab in SMA: an analysis of multiple endpoints and PD relationships to efficacy in the TOPAZ trial. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- The international spinal muscular atrophy registry (ISMAR): baseline characteristics
  Montes, J., Coratti, G., Scoto, M., Balashkin, J., Pera, M., Samsuddin, S., … Mercuri, E. (2021). The international spinal muscular atrophy registry (ISMAR): baseline characteristics. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Scientific rationale for a higher dose of nusinersen
  Ryan, M., Finkel, R., Pascual, S. P., Day, J., Mercuri, E., De Vivo, D., … Berger, Z. (2021). Scientific rationale for a higher dose of nusinersen. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Pooled safety data from the risdiplam clinical trial development program
  Baranello, G., Servais, L., Bertini, E., Chiriboga, C., Darras, B., Day, J., … Mercuri, E. (2021). Pooled safety data from the risdiplam clinical trial development program. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Part A results from the ongoing DEVOTE study to explore higher-dose nusinersen in SMA
  Mercuri, E., Finkel, R., Day, J., Pascual, S. P., Ryan, M., De Vivo, D., … Berger, Z. (2021). Part A results from the ongoing DEVOTE study to explore higher-dose nusinersen in SMA. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- SUNFISH Part 2: 24-month efficacy and safety of risdiplam in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA)
  Nascimento, A., Day, J., Deconinck, N., Mazzone, E., Oskoui, M., Saito, K., … Mercuri, E. (2021). SUNFISH Part 2: 24-month efficacy and safety of risdiplam in patients with Type 2 or non-ambulant Type 3 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- IREFISH Parts 1 and 2: 24-month safety and efficacy of risdiplam in type 1 spinal muscular atrophy (SMA)
  Masson, R., Boespflug-Tanguy, O., Darras, B., Day, J., Deconinck, N., Klein, A., … Baranello, G. (2021). IREFISH Parts 1 and 2: 24-month safety and efficacy of risdiplam in type 1 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Newborn screening (NBS) for spinal muscular atrophy (SMA) in the United States (US): Early findings from the RESTORE registry
  Servais, L., De Vivo, D., Kirschner, J., Mercuri, E., Muntoni, F., Tizzano, E., … Finkel, R. (2021). Newborn screening (NBS) for spinal muscular atrophy (SMA) in the United States (US): Early findings from the RESTORE registry. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Long-term follow-up (LTFU) of onasemnogene abeparvovec gene therapy in spinal muscular atrophy (SMA)
  Mendell, J., Finkel, R., Mercuri, E., Strauss, K., Day, J., Kleyn, A., … Meriggioli, M. (2021). Long-term follow-up (LTFU) of onasemnogene abeparvovec gene therapy in spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Real-world treatment patterns and outcomes in patients with spinal muscular atrophy (SMA): Updated findings from the RESTORE Registry
  Servais, L., Day, J., De Vivo, D., Mercuri, E., Muntoni, F., Shieh, P., … Finkel, R. (2021). Real-world treatment patterns and outcomes in patients with spinal muscular atrophy (SMA): Updated findings from the RESTORE Registry. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Routine practices in use of onasemnogene abeparvovec (OA) in older patients with spinal muscular atrophy (SMA): Early findings from RESTORE
  Servais, L., De Vivo, D., Kirschner, J., Mercuri, E., Muntoni, F., Tizzano, E., … Finkel, R. (2021). Routine practices in use of onasemnogene abeparvovec (OA) in older patients with spinal muscular atrophy (SMA): Early findings from RESTORE. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
  Rudnicki, S. A., Andrews, J. A., Duong, T., Cockroft, B. M., Malik, F. I., Meng, L., … Day, J. W. (2021). Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics.
- Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
  Diaz-Manera, J., Kishnani, P. S., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, V., … Schoser, B. (2021). Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. The Lancet. Neurology, 20(12), 1012–1026.
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
  Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., … Zuchner, S. (2019). Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. JOURNAL OF NEUROMUSCULAR DISEASES, 6(2), 201–211.
- Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy
  Pacione, M., Siskind, C. E., Day, J. W., & Tabor, H. K. (2019). Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. JOURNAL OF NEUROMUSCULAR DISEASES, 6(1), 119–131.
- ONASEMNOGENE ABEPARVOVEC GENE THERAPY FOR SPINAL MUSCULAR ATROPHY TYPE 1: PHASE 3 STUDY (STR1VE-US)
  Day, J. W., Finkel, R. S., Connolly, A. M., Darras, B. T., Iannaccone, S. T., Kuntz, N. L., … Mendell, J. R. (2021). ONASEMNOGENE ABEPARVOVEC GENE THERAPY FOR SPINAL MUSCULAR ATROPHY TYPE 1: PHASE 3 STUDY (STR1VE-US). THORAX. BMJ PUBLISHING GROUP.
- Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
  Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., … Day, J. W. (1800). Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet. Neurology, 21(1), 42–52.
- Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy.
  Day, J. W., Mendell, J. R., Mercuri, E., Finkel, R. S., Strauss, K. A., Kleyn, A., … Chand, D. H. (1800). Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Safety.
- SUNFISH Part 2: 24-month Efficacy and Safety of Risdiplam in Patients with Type 2 or Non-ambulant Type 3 Spinal Muscular Atrophy (SMA)
  Oskoui, M., Day, J. W., Deconinck, N., Mazzone, E., Nascimento, A., Saito, K., … Mercuri, E. (2021). SUNFISH Part 2: 24-month Efficacy and Safety of Risdiplam in Patients with Type 2 or Non-ambulant Type 3 Spinal Muscular Atrophy (SMA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- A phase I/II open-label gene replacement clinical study for late onset Pompe disease
  Mozaffar, T., Day, J., Foo, C. W. P., Bachtell, N., & Conner, E. (2021). A phase I/II open-label gene replacement clinical study for late onset Pompe disease. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Results of Double-blind, Placebo-controlled, Dose Range Finding, Crossover Study of Single Day Administration of ERX-963 (IV Flumazenil) in Adults with Myotonic Dystrophy Type 1
  Sampson, J., Wang, E., Day, J., Gutmann, L., Mezerhane, E., Seto, A., & Ehrich, E. (2021). Results of Double-blind, Placebo-controlled, Dose Range Finding, Crossover Study of Single Day Administration of ERX-963 (IV Flumazenil) in Adults with Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants With Spinal Muscular Atrophy (SMA); Study Design and Part A Data for the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen
  Day, J. W., Pascual, S. I. P., Finkel, R. S., Ryan, M. M., Mercuri, E., De Vivo, D. C., … Berger, Z. (2021). Escalating Dose and Randomized, Controlled Study of Nusinersen in Participants With Spinal Muscular Atrophy (SMA); Study Design and Part A Data for the Phase 2/3 DEVOTE (232SM203) Study to Explore High Dose Nusinersen. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Efficacy and Safety Results of the Avalglucosidase alfa Phase 3 COMET Trial in Late-Onset Pompe Disease Patients
  Kushlaf, H., Attarian, S., Borges, J. L., Bouhour, F., Chien, Y.-H., Choi, Y.-C., … Schoser, B. (2021). Efficacy and Safety Results of the Avalglucosidase alfa Phase 3 COMET Trial in Late-Onset Pompe Disease Patients. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Long-Term Follow-Up (LTFU) of Onasemnogene Abeparvovec Gene Therapy in Spinal Muscular Atrophy (SMA)
  Mendell, J., Finkel, R., Mercuri, E., Strauss, K., Day, J., Kleyn, A., … Meriggioli, M. (2021). Long-Term Follow-Up (LTFU) of Onasemnogene Abeparvovec Gene Therapy in Spinal Muscular Atrophy (SMA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Pooled Safety Data from the Risdiplam Clinical Trial Development Program
  Servais, L., Baranello, G., Bertini, E., Chiriboga, C., Darras, B. T., Day, J. W., … Mercuri, E. (2021). Pooled Safety Data from the Risdiplam Clinical Trial Development Program. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes.
  Coratti, G., Carmela Pera, M., Montes, J., Scoto, M., Pasternak, A., Bovis, F., … Mercuri, E. (1800). Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscular Disorders : NMD.
- Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial
  Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., … Day, J. W. (2022). Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial. LANCET NEUROLOGY, 21(1), 42–52.
- Toward Developing Robust Myotonic Dystrophy Brain Biomarkers using White Matter Tract Profiles Sub-Band Energy and A Framework of Ensemble Predictive Learning.
  Kamali, T., Parker, D., Day, J. W., Sampson, J., Deutsch, G. K., & Wozniak, J. R. (2021). Toward Developing Robust Myotonic Dystrophy Brain Biomarkers using White Matter Tract Profiles Sub-Band Energy and A Framework of Ensemble Predictive Learning. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2021, 3838–3841.
- Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy.
  Waldrop, M. A., Moore, S. A., Mathews, K. D., Darbro, B. W., Medne, L., Finkel, R., … Flanigan, K. M. (2022). Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Human Mutation.
- Brief assessment of cognitive function in myotonic dystrophy: multicenter longitudinal study using computer-assisted evaluation.
  Deutsch, G. K., Hagerman, K. A., Sampson, J., Dent, G., Dekdebrun, J., Parker, D. M., … Day, J. W. (2022). Brief assessment of cognitive function in myotonic dystrophy: multicenter longitudinal study using computer-assisted evaluation. Muscle & Nerve.
- Cardiac and pulmonary findings in dysferlinopathy: a 3-year, longitudinal study.
  Moore, U., Fernandez-Torron, R., Jacobs, M., Gordish, H., Diaz-Manera, J., James, M. K., … Straub, V. (2022). Cardiac and pulmonary findings in dysferlinopathy: a 3-year, longitudinal study. Muscle & Nerve.
- Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
  Diaz-Manera, J., Kishnani, P. S., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, V., … Schoser, B. (2021). Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. LANCET NEUROLOGY, 20(12), 1012–1026.
- Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.
  Mayhew, A. G., James, M. K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., … Straub, V. (2022). Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Frontiers in Neurology, 13, 828525.
- Major Adverse Dystrophinopathy Event Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy
  Kaufman, B. D., Garcia, A., He, Z., Buu, M., Tesi-Rocha, C., Day, J. W., … Duong, T. (2022). Major Adverse Dystrophinopathy Event Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy. JOURNAL OF HEART AND LUNG TRANSPLANTATION. ELSEVIER SCIENCE INC.
- Scientific rationale for a higher dose of nusinersen.
  Finkel, R. S., Ryan, M. M., Pascual Pascual, S. I., Day, J. W., Mercuri, E., De Vivo, D. C., … Berger, Z. (2022). Scientific rationale for a higher dose of nusinersen. Annals of Clinical and Translational Neurology.
- AT845 gene replacement therapy for late onset Pompe disease: Overview of clinical data from FORTIS, a phase 1/2 open-label clinical study
  Mozaffar, T., Day, J. W., Longo, N., Manera, J. D., Straub, V., Maruoka, M., … Bachtell, N. (2022). AT845 gene replacement therapy for late onset Pompe disease: Overview of clinical data from FORTIS, a phase 1/2 open-label clinical study. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks
  Kishnani, P., Diaz-Manera, J., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, V., … Schoser, B. (2022). The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.
  Morelli, K. H., Jin, W., Shathe, S., Madrigal, A. A., Jones, K. L., Schwartz, J. L., … Yeo, G. W. (2022). MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy. Science Translational Medicine, 14(651), eabn2375.
- Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies.
  Chitkara, R., Chock, V., Davis, A., Rocha, C. T., Day, J. W., Fluharty, B., & Hintz, S. (2022). Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies. NeoReviews, 23(7), e520–e526.
- COMET: Efficacy and safety of avalglucosidase alfa in late-onset Pompe disease participants after 97 weeks of treatment
  Schoser, B., Kishnani, P., Diaz-Manera, J., Kushlaf, H., Ladha, S., Mozaffar, T., … Dimachkie, M. (2022). COMET: Efficacy and safety of avalglucosidase alfa in late-onset Pompe disease participants after 97 weeks of treatment. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy
  Deconinck, N., Baranello, G., Boespflug-Tanguy, O., Day, J., Klein, A., Masson, R., … Darras, B. (2022). FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- SUNFISH: 3-year efficacy and safety of risdiplam in Types 2 and 3 spinal muscular atrophy
  Goemans, N., Day, J., Deconinck, N., Mazzone, E., Nascimento, A., Oskoui, M., … Mercuri, E. (2022). SUNFISH: 3-year efficacy and safety of risdiplam in Types 2 and 3 spinal muscular atrophy. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- PREVALENCE OF HEALTHCARE CONDITIONS AND SERVICES USED BY PATIENTS WITH MYOTONIC DYSTROPHY PRE-AND POST-DIAGNOSIS, A REAL-WORLD DATA ANALYSIS
  Day, J. W., Munoz, K., Brook, R. A., McEvoy, B., Tai, L. J., DiTrapani, K., … Stahl, M. (2022). PREVALENCE OF HEALTHCARE CONDITIONS AND SERVICES USED BY PATIENTS WITH MYOTONIC DYSTROPHY PRE-AND POST-DIAGNOSIS, A REAL-WORLD DATA ANALYSIS. VALUE IN HEALTH. ELSEVIER SCIENCE INC.
- SUNFISH PART 2: 24-MONTH EFFICACY OF RISDIPLAM COMPARED WITH EXTERNAL CONTROL COMPARATORS
  Servais, L., Day, J. W., Mazzone, E. S., Oskoui, M., Baranello, G., Gerber, M., … Mercuri, E. (2022). SUNFISH PART 2: 24-MONTH EFFICACY OF RISDIPLAM COMPARED WITH EXTERNAL CONTROL COMPARATORS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. BMJ PUBLISHING GROUP.
- SUNFISH 3-YEAR EFFICACY AND SAFETY OF RISDIPLAM IN TYPES 2 AND 3 SMA
  Servais, L., Day, J. W., Mazzone, E. S., Oskoui, M., Baranello, G., Gerber, M., … Mercuri, E. (2022). SUNFISH 3-YEAR EFFICACY AND SAFETY OF RISDIPLAM IN TYPES 2 AND 3 SMA. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. BMJ PUBLISHING GROUP.
- Water T2 could predict functional decline in patients with dysferlinopathy.
  Moore, U., Caldas de Almeida Araújo, E., Reyngoudt, H., Gordish-Dressman, H., Smith, F. E., Wilson, I., … Diaz-Manera, J. (2022). Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia, Sarcopenia and Muscle.
- Large Fenestrations Versus Scallops for the SMA During Fenestrated EVAR: Does it Matter?
  Sorondo, S. M., Ss, D., K, T., Vt, H., Jr, S., & J, L. (2022). Large Fenestrations Versus Scallops for the SMA During Fenestrated EVAR: Does it Matter? Annals of Vascular Surgery.
- Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features.
  Kamali, T., Deutsch, G. K., Hagerman, K. A., Parker, D., Day, J. W., Sampson, J. B., & Wozniak, J. R. (2022). Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2022, 4377–4382.
- Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study.
  Fridman, V., Sillau, S., Bockhorst, J., Smith, K., Moroni, I., Pagliano, E., … Shy, M. E. (2022). Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study. Annals of Neurology.
- Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
  Duong, T., Kishnani, P. S., An Haack, K., Foster, M. C., Gibson, J. B., Wilson, C., … Day, J. W. (2022). Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of Neuromuscular Diseases.
- Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
  Masson, R., Mazurkiewicz-Beldzinska, M., Rose, K., Servais, L., Xiong, H., Zanoteli, E., … Darras, B. T. (2022). Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. The Lancet. Neurology.
- Advances and limitations for the treatment of spinal muscular atrophy.
  Day, J. W., Howell, K., Place, A., Long, K., Rossello, J., Kertesz, N., & Nomikos, G. (2022). Advances and limitations for the treatment of spinal muscular atrophy. BMC Pediatrics, 22(1), 632.
- Adaptive test for neuromuscular disorders: Design of a wheelchair-based assessment
  Duong, T., Tang, W., Nelson, L., Parker, D., Pasternak, A., Young, S. D., … Mayhew, A. (2022). Adaptive test for neuromuscular disorders: Design of a wheelchair-based assessment. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Integrated analyses of data from clinical trials of delandistrogene moxeparvovec in DMD
  Zaidman, C., Shieh, P., Proud, C., McDonald, C., Day, J., Mason, S., … Mendell, J. (2022). Integrated analyses of data from clinical trials of delandistrogene moxeparvovec in DMD. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study
  Crawford, T., Darras, B., Day, J., Barrett, D., Song, G., O'Neil, J., … Chyung, Y. (2022). Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- SUNFISH parts 1 and 2: 3-year efficacy and safety of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
  Day, J., Deconinck, N., Mazzone, E., Nascimento, A., Oskoui, M., Saito, K., … Mercuri, E. (2022). SUNFISH parts 1 and 2: 3-year efficacy and safety of risdiplam in types 2 and 3 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3
  Trucco, F., Weststrate, H., Ridout, D., Scoto, M., Rohwer, A., Coratti, G., … Muntoni, F. (2022). Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Prevalence of healthcare conditions and services used by patients with myotonic dystrophy (DM) pre- and post-diagnosis: A real-world data analysis
  Day, J., Munoz, K., Brook, R., McEvoy, B., Tai, L., DiTrapani, K., … Stahl, M. (2022). Prevalence of healthcare conditions and services used by patients with myotonic dystrophy (DM) pre- and post-diagnosis: A real-world data analysis. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA)
  Servais, L., Baranello, G., Boespflug-Tanguy, O., Day, J., Deconinck, N., Klein, A., … Darras, B. (2022). FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Clinical outcome study of dysferlinopathy 2: Characterising involvement of the intrinsic muscles of the hand in LGMDR2
  James, M., Mayhew, A., Gordish-Dressman, H., Rufibach, L., Wong, K., Roper, W., … Straub, V. (2022). Clinical outcome study of dysferlinopathy 2: Characterising involvement of the intrinsic muscles of the hand in LGMDR2. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Real-world outcomes of exon skipping therapy use in patients with Duchenne muscular dystrophy: Experience at a single, large tertiary care center
  Yaworski, A., Duong, T., Low, J., Gee, R., Watson, K., Buu, M., … Rocha, C. T. (2022). Real-world outcomes of exon skipping therapy use in patients with Duchenne muscular dystrophy: Experience at a single, large tertiary care center. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Efficacy and safety of Avalglucosidase Alfa in participants with late-onset Pompe Disease after 145 weeks' treatment during the COMET trial
  Schoser, B., Kishnani, P., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, … Dimachkie, M. (2022). Efficacy and safety of Avalglucosidase Alfa in participants with late-onset Pompe Disease after 145 weeks' treatment during the COMET trial. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Multimodal fusion of neuroimaging and neuropsych data: A machine learning approach to study brain alterations linked with cognitive domains in DM1
  Kamali, T., Parker, D., Deutsch, G., Sampson, J., Day, J., & Wozniak, J. (2022). Multimodal fusion of neuroimaging and neuropsych data: A machine learning approach to study brain alterations linked with cognitive domains in DM1. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Safety update: Risdiplam clinical trial development program
  Chiriboga, C., Servais, L., Baranello, G., Darras, B., Day, J., Deconinck, N., … Mercuri, E. (2022). Safety update: Risdiplam clinical trial development program. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
  Moore, U., Simon, E. F., Day, J., Jones, K., Bharucha-Goebel, D., Pestronk, A., … Diaz-Manera, J. (2022). Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- A phase 1/2 clinical trial evaluating the safety and pharmacokinetics of AOC 1001 in adults with myotonic dystrophy type 1: MARINA study design
  Johnson, N., Day, J., Hamel, J., Statland, J., Subramony, S., Arnold, W., … Ackermann, E. (2022). A phase 1/2 clinical trial evaluating the safety and pharmacokinetics of AOC 1001 in adults with myotonic dystrophy type 1: MARINA study design. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Evaluating 2-3 year responses to disease modifying treatment in adults with spinal muscular atrophy
  Duong, T., Tang, W., Young, S. D., Parker, D., Wolford, C., Sampson, J., & Day, J. (2022). Evaluating 2-3 year responses to disease modifying treatment in adults with spinal muscular atrophy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Results from the end of Part A of the ongoing 3-part DEVOTE study to explore higher doses of nusinersen in SMA
  Day, J., Finkel, R., Pascual, S., Ryan, M., Mercuri, E., De Vivo, D., … Berger, Z. (2022). Results from the end of Part A of the ongoing 3-part DEVOTE study to explore higher doses of nusinersen in SMA. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
  Moore, U., Fernandez-Simon, E., Schiava, M., Cox, D., Gordish-Dressman, H., James, M. K., … Straub, V. (2023). Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy. Neuromuscular Disorders : NMD, 33(2), 199–207.
- Exploring Protein Changes in Cerebrospinal Fluid of Spinal Muscular Atrophy Patients Pre-Nusinersen vs. Post-Nusinersen Treatment using Bayesian Machine Learning Algorithms
  Kamali, T., Hagerman, K., Duong, T., Parker, D., Young, S., Tang, W., … Day, J. (2022). Exploring Protein Changes in Cerebrospinal Fluid of Spinal Muscular Atrophy Patients Pre-Nusinersen vs. Post-Nusinersen Treatment using Bayesian Machine Learning Algorithms. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- SUNFISH: 3-year Efficacy and Safety of Risdiplam in Types 2 and 3 SMA
  Day, J. W., Deconinck, N., Kirschner, J., Mazzone, E. S., Nascimento, A., Oskoui, M., … Mercuri, E. (2022). SUNFISH: 3-year Efficacy and Safety of Risdiplam in Types 2 and 3 SMA. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Apitegromab in Spinal Muscular Atrophy (SMA): An Analysis of Multiple Efficacy Endpoints in the TOPAZ Trial
  Crawford, T., Darras, B., Day, J., Song, G., Nomikos, G., Place, A., … Chyung, Y. (2022). Apitegromab in Spinal Muscular Atrophy (SMA): An Analysis of Multiple Efficacy Endpoints in the TOPAZ Trial. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Pooled Safety Data from the Risdiplam Clinical Trial Development Program
  Darras, B. T., Chiriboga, C. A., Servais, L., Baranello, G., Bertini, E., Day, J. W., … Mercuri, E. (2022). Pooled Safety Data from the Risdiplam Clinical Trial Development Program. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1
  Fecto, F., Parker, D., Sampson, J., Mueller, B., Lim, K., Wozniak, J., … Day, J. (2022). Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- FIREFISH Parts 1 and 2: 24-month Safety and Efficacy of Risdiplam in Type 1 SMA
  Darras, B. T., Boespflug-Tanguy, O., Day, J. W., Deconinck, N., Klein, A., Masson, R., … Baranello, G. (2022). FIREFISH Parts 1 and 2: 24-month Safety and Efficacy of Risdiplam in Type 1 SMA. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- The RESTORE Registry: Real -World Assessments of Interventions and Long -Term Outcomes in Patients with Spinal Muscular Atrophy (SMA)
  Finkel, R., Day, J., De Vivo, D., Mercuri, E., Muntoni, F., Shieh, P., … Servais, L. (2022). The RESTORE Registry: Real -World Assessments of Interventions and Long -Term Outcomes in Patients with Spinal Muscular Atrophy (SMA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1
  Fecto, F., Parker, D., Sampson, J., Mueller, B., Lim, K., Wozniak, J., … Day, J. (2022). Mesial Temporal Enlargement in Adult-Onset Myotonic Dystrophy Type 1. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
  Oskoui, M., Day, J. W., Deconinck, N., Mazzone, E. S., Nascimento, A., Saito, K., … Mercuri, E. (2023). Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology.
- Validation of the Parent-Proxy Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
  Wu, T. T., Finkel, R. S., Siskind, C. E., Feely, S. M., Burns, J., Reilly, M. M., … Ramchandren, S. (2023). Validation of the Parent-Proxy Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure. Journal of the Peripheral Nervous System : JPNS.
- Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes.
  Young, S. D., Pasternak, A., Duong, T., McGrattan, K. E., Stranberg, S., Maczek, E., … Day, J. W. (2023). Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes. Journal of Neuromuscular Diseases.
- Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
  Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., … Muntoni, F. (2023). Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy.
- Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
  Thornton, C. A., Moxley, R. T., Eichinger, K., Heatwole, C., Mignon, L., Arnold, W. D., … Bennett, C. F. (2023). Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. The Lancet. Neurology, 22(3), 218–228.
- 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
  Stimpson, G., Ramsey, D., Wolfe, A., Mayhew, A., Scoto, M., Baranello, G., … Muntoni, F. (2023). 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of Clinical Medicine, 12(5).
- Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
  Finkel, R. S., Darras, B. T., Mendell, J. R., Day, J. W., Kuntz, N. L., Connolly, A. M., … Tauscher-Wisniewski, S. (2023). Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). Journal of Neuromuscular Diseases.
- Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.
  Llansó, L., Moore, U., Bolano-Diaz, C., James, M., Blamire, A. M., Carlier, P. G., … Díaz-Manera, J. (2023). Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern. Neuromuscular Disorders : NMD, 33(4), 349–357.
- Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
  Kishnani, P. S., Diaz-Manera, J., Toscano, A., Clemens, P. R., Ladha, S., Berger, K. I., … Schoser, B. (2023). Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial. JAMA Neurology.
- Correction to: Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
  Oskoui, M., Day, J. W., Deconinck, N., Mazzone, E. S., Nascimento, A., Saito, K., … Mercuri, E. (2023). Correction to: Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology.
- Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene.
  Zeng, W., Kong, X., Alamana, C., Liu, Y., Guzman, J., Pang, P. D., … Wu, J. C. (2023). Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene. Stem Cell Research, 69, 103095.
- Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
  Nutter, C. A., Kidd, B. M., Carter, H. A., Hamel, J. I., Mackie, P. M., Kumbkarni, N., … Swanson, M. S. (2023). Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1. Brain : a Journal of Neurology.
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
  Record, C. J., Skorupinska, M., Laura, M., Rossor, A. M., Pareyson, D., Pisciotta, C., … Reilly, M. M. (2023). Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a Journal of Neurology.
- Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
  Thornton, C. A., Iii, R. T. M., Eichinger, K., Heatwole, C., Mignon, L., Arnold, W. D., … Bennett, C. F. (2023). Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. LANCET NEUROLOGY, 22(3), 218–228.
- Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
  Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., … Muntoni, F. (2023). Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy.
- DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
  Finkel, R. S., Day, J. W., Pascual, S. I., Ryan, M. M., Mercuri, E., De Vivo, D. C., … Berger, Z. (2023). DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results. Journal of Neuromuscular Diseases.
- Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function.
  Dunaway Young, S., Montes, J., Glanzman, A. M., Gee, R., Day, J. W., Finkel, R. S., … Berger, Z. (2023). Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. Journal of Clinical Medicine, 12(15).
- ADAPTations to low load blood flow restriction exercise versus conventional heavier load resistance exercise in UK military personnel with persistent knee pain: protocol for the ADAPT study, a multi-centre randomized controlled trial
  Cassidy, R. P., Lunt, K. M., Coppack, R. J., Bennett, A. N., Bilzon, J. L. J., Mcguigan, M. P., … Ladlow, P. (2023). ADAPTations to low load blood flow restriction exercise versus conventional heavier load resistance exercise in UK military personnel with persistent knee pain: protocol for the ADAPT study, a multi-centre randomized controlled trial. BMC MUSCULOSKELETAL DISORDERS, 24(1), 580.
- COMPARATIVE REAL-WORLD RETROSPECTIVE DATA ANALYSIS OF COMORBID CONDITIONS AND HEALTHCARE UTILIZATION FOR PATIENTS WITH MYOTONIC DYSTROPHY OVER A 5-YEAR TIMEFRAME
  Day, J. W., Chen, C. Y., Munoz, K., Brook, R. A., Kleinman, N. L., McEvoy, B., … Tai, L. J. (2023). COMPARATIVE REAL-WORLD RETROSPECTIVE DATA ANALYSIS OF COMORBID CONDITIONS AND HEALTHCARE UTILIZATION FOR PATIENTS WITH MYOTONIC DYSTROPHY OVER A 5-YEAR TIMEFRAME. VALUE IN HEALTH. ELSEVIER SCIENCE INC.
- AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study
  Manera, J. D., Mozaffar, T., Day, J. W., Longo, N., Straub, V., Varfaj, F., … Smith, A. R. (2023). AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
  Kishnani, P. S., Diaz-Manera, J., Kushlaf, H., Ladha, S., Mozaffar, T., Straub, V., … Schoser, B. (2023). Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE.
- Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients.
  Liu, W., Zeng, W., Kong, X., Htet, M., Yu, R., Wheeler, M., … Wu, J. C. (2023). Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients. Stem Cell Research, 72, 103207.
- Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy.
  Day, J. W., Mendell, J. R., Burghes, A. H., van Olden, R. W., Adhikary, R. R., & Dilly, K. W. (2023). Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy. Molecular Therapy. Methods & Clinical Development, 31, 101117.
- Integrated Analyses of Data from Clinical Trials of Delandistrogene Moxeparvovec (SRP-9001) in Duchenne Muscular Dystrophy (DMD)
  Proud, C., Zaidman, C., Shieh, P., McDonald, C., Day, J., Mason, S., … Mendell, J. (2023). Integrated Analyses of Data from Clinical Trials of Delandistrogene Moxeparvovec (SRP-9001) in Duchenne Muscular Dystrophy (DMD). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- SUNFISH Parts 1 and 2: 4-year Efficacy and Safety Data of Risdiplam in Types 2 and 3 Spinal Muscular Atrophy (SMA)
  Servais, L., Oskoui, M., Day, J., Deconinck, N., Mazzone, E., Nascimento, A., … Mercuri, E. (2023). SUNFISH Parts 1 and 2: 4-year Efficacy and Safety Data of Risdiplam in Types 2 and 3 Spinal Muscular Atrophy (SMA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics
  Walker, M., Butterfield, R., Day, J., Eichinger, K., Elsheikh, B., Friedman, S., … Statland, J. (2023). Motor Outcomes to Validate Evaluations in Facioscapulohumeral muscular dystrophy (MOVE FSHD): Preliminary Baseline Characteristics. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Preliminary Assessment of the Phase 1/2 Clinical Trial Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Patients with Myotonic Dystrophy Type 1 (DM1) (MARINA)
  Johnson, N., Day, J., Hamel, J., Thornton, C., Subramony, S., Soltanzadeh, P., … Ackermann, E. (2023). Preliminary Assessment of the Phase 1/2 Clinical Trial Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Patients with Myotonic Dystrophy Type 1 (DM1) (MARINA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- Intravenous and Intrathecal Onasemnogene Abeparvovec Gene Therapy in Symptomatic and Presymptomatic Spinal Muscular Atrophy: Long-Term Follow-Up Study
  Darras, B., Mercuri, E., Strauss, K., Day, J., Chien, Y.-H., Masson, R., … Connolly, A. (2023). Intravenous and Intrathecal Onasemnogene Abeparvovec Gene Therapy in Symptomatic and Presymptomatic Spinal Muscular Atrophy: Long-Term Follow-Up Study. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- A Multimodal Neuroimaging Feature Extraction Framework for Biomarker Discovery in Myotonic Dystrophies
  Kamali, T., Day, J., Sampson, J., Murad, A., & Chaufty, J. (2023). A Multimodal Neuroimaging Feature Extraction Framework for Biomarker Discovery in Myotonic Dystrophies. NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA)
  Darras, B., Baranello, G., Boespflug-Tanguy, O., Day, J., Deconinck, N., Klein, A., … Servais, L. (2023). FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA). NEUROLOGY. LIPPINCOTT WILLIAMS & WILKINS.
- SUNFISH Parts 1 and 2: 4-year efficacy and safety data of risdiplam in Types 2 and 3 spinal muscular atrophy (SMA)
  Kostera-Pruszczyk, A., Day, J., Deconinck, N., Mazzone, E., Nascimento, A., Oskoui, M., … Mercuri, E. (2023). SUNFISH Parts 1 and 2: 4-year efficacy and safety data of risdiplam in Types 2 and 3 spinal muscular atrophy (SMA). EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- Apitegromab in SMA: An Analysis of Additional Efficacy Endpoints in the TOPAZ Study at 36 Months
  Crawford, T., Darras, B., Day, J., Mercuri, E., Nascimento, A., Mazzone, E. S., … Marantz, J. (2023). Apitegromab in SMA: An Analysis of Additional Efficacy Endpoints in the TOPAZ Study at 36 Months. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- COMET: Patient-reported outcome measures in patients with late-onset Pompe disease after 145 weeks' avalglucosidase alfa
  Toscano, A., Kishnani, P., Diaz-Manera, J., Kushlaf, H., Ladha, S., Mozaffar, T., … Comet Invest Grp. (2023). COMET: Patient-reported outcome measures in patients with late-onset Pompe disease after 145 weeks' avalglucosidase alfa. EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- FIREFISH Parts 1 and 2: 4-year efficacy and safety of risdiplam in Type 1 spinal muscular atrophy (SMA)
  Mazurkiewicz-Beldzinska, M., Baranello, G., Boespflug-Tanguy, O., Day, J., Deconinck, N., Klein, A., … Darras, B. (2023). FIREFISH Parts 1 and 2: 4-year efficacy and safety of risdiplam in Type 1 spinal muscular atrophy (SMA). EUROPEAN JOURNAL OF NEUROLOGY. WILEY.
- A Human PBMC Assay of Type 1 Interferon Responses to Closely Related AAV Vectors
  Hamilton, B. A., Patil, R., Kim, S., Day, J. W., & Wright, J. F. (2023). A Human PBMC Assay of Type 1 Interferon Responses to Closely Related AAV Vectors. MOLECULAR THERAPY. CELL PRESS.
- Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.
  Beaudin, M., Kamali, T., Tang, W., Hagerman, K. A., Dunaway Young, S., Ghiglieri, L., … Day, J. W. (2023). Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy. Journal of Clinical Medicine, 12(20).
- Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic spinal muscular atrophy (SMA): long-term follow-up study
  Darras, B., Mercuri, E., Strauss, K., Day, J., Chien, Y., Masson, R., … Connolly, A. (2023). Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic spinal muscular atrophy (SMA): long-term follow-up study. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Assessment of maximal effort for weaker individuals with NMD during the assisted six-minute cycling test
  Blumberg, Y., De Monts, C., Tang, W., Montalvo, S., Ataide, P., Young, S. D., … Duong, T. (2023). Assessment of maximal effort for weaker individuals with NMD during the assisted six-minute cycling test. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Effect of apitegromab on motor function at 36 months in patients with nonambulatory spinal muscular atrophy aged 2-12 years old
  Crawford, T., Darras, B., Day, J., De Vivo, D., Mercuri, E., Nascimento, A., … Marantz, J. (2023). Effect of apitegromab on motor function at 36 months in patients with nonambulatory spinal muscular atrophy aged 2-12 years old. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- More prevalent comorbidities, healthcare costs, and service utilization in male Myotonic Dystrophy (DM) patients and female patients
  Day, J., Munoz, K., Chen, C., Brook, R., Kleinman, N., Cho, H., … Tai, L. (2023). More prevalent comorbidities, healthcare costs, and service utilization in male Myotonic Dystrophy (DM) patients and female patients. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy
  Crawford, T., Darras, B., Day, J., Krueger, J., Mercuri, E., Nascimento, A., … Baver, S. (2023). Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA)
  Baranello, G., Chiriboga, C., Servais, L., Darras, B., Day, J., Deconinck, N., … Mercuri, E. (2023). Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Topline safety and efficacy data analysis of phase 1/2 clinical trial evaluating AOC 1001 in adults with myotonic dystrophy type 1: MARINA ™
  Johnson, N., Day, J., Hamel, J., Thornton, C., Subramony, S., Soltanzadeh, P., … Ackermann, E. (2023). Topline safety and efficacy data analysis of phase 1/2 clinical trial evaluating AOC 1001 in adults with myotonic dystrophy type 1: MARINA ™. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Topline data analysis of the phase 1/2 clinical trial evaluating AOC 1001 in adult patients with myotonic dystrophy type 1: MARINA
  Johnson, N., Day, J., Hamel, J., Thornton, C., Subramony, S., Soltanzadeh, P., … Ackermann, E. (2023). Topline data analysis of the phase 1/2 clinical trial evaluating AOC 1001 in adult patients with myotonic dystrophy type 1: MARINA. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy
  Hilsden, H., James, M., Dressman, H. G., Day, J., Mendell, J., Torron, R. F., … Mayhew, A. (2023). Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Assisted Six Minute Cycle Test (A6MCT): A Feasible and Valid Measurement of Functional and Fatigue Changes in Individuals with Spinal Muscular Atrophy
  Tang, W., Montalvo, S., De Monts, C., Young, S. D., Ataide, P., Ghiollagain, N. N., … Duong, T. (2023). Assisted Six Minute Cycle Test (A6MCT): A Feasible and Valid Measurement of Functional and Fatigue Changes in Individuals with Spinal Muscular Atrophy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA).
  Tang, W. J., Gu, B., Montalvo, S., Dunaway Young, S., Parker, D. M., de Monts, C., … Duong, T. (2023). Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA). Journal of Clinical Medicine, 12(24).
- Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks.
  Kamali, T., Day, J. W., Deutsch, G. K., Sampson, J. B., Murad, A., Chaufty, J., … Wozniak, J. R. (2023). Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference, 2023, 1–4.
- Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
  Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., … Finkel, R. S. (2024). Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases.
- Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study.
  Crawford, T. O., Darras, B. T., Day, J. W., Dunaway Young, S., Duong, T., Nelson, L. L., … Chyung, Y. (2024). Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study. Neurology, 102(5), e209151.
- Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
  Oskoui, M., Deconinck, N., Mazzone, E. S., Nascimento, A., Day, J. W., Saito, K., … Mercuri, E. (2023). Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA). JOURNAL OF THE NEUROLOGICAL SCIENCES. ELSEVIER.
- Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
  Wolfe, A., Stimpson, G., Ramsey, D., Coratti, G., Dunaway Young, S., Mayhew, A., … Muntoni, F. (2024). Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. Journal of Neuromuscular Diseases.
- Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
  Coratti, G., Bovis, F., Pera, M. C., Scoto, M., Montes, J., Pasternak, A., … Mercuri, E. (2024). Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study. European Journal of Neurology, e16309.
- Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.
  Harding, E. R., Kanner, C. H., Pasternak, A., Glanzman, A. M., Dunaway Young, S., Rao, A. K., … Montes, J. (2024). Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility. Journal of Clinical Medicine, 13(9).
- Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.
  Coratti, G., Civitello, M., Rohwer, A., Salmin, F., Glanzman, A. M., Montes, J., … Mercuri, E. (2024). Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscular Disorders : NMD, 41, 42–50.
- Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
  Trucco, F., Ridout, D., Weststrate, H., Scoto, M., Rohwer, A., Coratti, G., … Muntoni, F. (2024). Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3. Neurology. Clinical Practice, 14(3), e200298.
- Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.
  Crawford, T. O., Day, J. W., De Vivo, D. C., Krueger, J. M., Mercuri, E., Nascimento, A., … Darras, B. T. (2024). Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study. Frontiers in Neurology, 15, 1419791.
- Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
  Coratti, G., Civitello, M., Rohwer, A., Albamonte, E., Montes, J., Glanzman, A. M., … Mercuri, E. (2024). Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. Neuromuscular Disorders : NMD, 104449.
- Exercise And Recovery Ventilatory Responses Between Individuals With Neuromuscular Disease And Healthy Adults
  Montalvo, S., Blumberg, Y., de Monts, C., Tang, W. J., Ataide, P. E., Young, S. D., … Christle, J. W. (2024). Exercise And Recovery Ventilatory Responses Between Individuals With Neuromuscular Disease And Healthy Adults. MEDICINE & SCIENCE IN SPORTS & EXERCISE. LIPPINCOTT WILLIAMS & WILKINS.
- Investigating Recovery From Maximal Exercise In Patients With Neuromuscular Disease
  Blumberg, Y., Patti, A., De Monts, C., Montalvo, S., Ataide, P. E., Tang, W., … Day, J. W. (2024). Investigating Recovery From Maximal Exercise In Patients With Neuromuscular Disease. MEDICINE & SCIENCE IN SPORTS & EXERCISE. LIPPINCOTT WILLIAMS & WILKINS.
- Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
  Coratti, G., Bovis, F., Pera, M. C., Civitello, M., Rohwer, A., Salmin, F., … Mercuri, E. (2024). Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. European Journal of Neurology, e16517.
- MINIMAL CLINICALLY IMPORTANT DIFFERENCE (MCID) FOR THE CMT PEDIATRIC SCALE (CMTPEDS)
  Cornett, K., Menezes, M., Donlevy, G., Estilow, T., McKay, M., Eichinger, K., … Burns, J. (2024). MINIMAL CLINICALLY IMPORTANT DIFFERENCE (MCID) FOR THE CMT PEDIATRIC SCALE (CMTPEDS). JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. WILEY.
- From Review to Readiness: CMT4J and the Road to Clinical Trials
  Cooper, S., Gottlieb, K., Messahel, S., Thomas, R., Duff, J., Pirovolakis, T., … Iannaccone, S. (2024). From Review to Readiness: CMT4J and the Road to Clinical Trials. MOLECULAR THERAPY. CELL PRESS.
- A Strategy to Select Minimally Immunogenic Candidate AAV Vectors to Treat GNE Myopathy
  Hamilton, B. A., Patil, R., Ruland, B., Day, J., & Wright, J. F. (2024). A Strategy to Select Minimally Immunogenic Candidate AAV Vectors to Treat GNE Myopathy. MOLECULAR THERAPY. CELL PRESS.
- Phase 3, randomized, global study assessing efficacy and safety of del-desiran for the treatment of myotonic dystrophy type 1: HARBOR trial design
  Fowler, M., Johnson, N., Thornton, C., Day, J., Sansone, V., McEvoy, B., … Ackermann, E. (2024). Phase 3, randomized, global study assessing efficacy and safety of del-desiran for the treatment of myotonic dystrophy type 1: HARBOR trial design. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic SMA: long-term follow-up study
  Darras, B., Farrar, M., Mercuri, E., Strauss, K., Day, J., Chien, Y., … Connolly, A. (2024). Intravenous and intrathecal onasemnogene abeparvovec gene therapy in symptomatic and presymptomatic SMA: long-term follow-up study. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Longitudinal assessment of the Adapted Test for Neuromuscular Disease (ATEND) in individuals living with spinal muscular atrophy (SMA)
  Duong, T., Muni-Lofra, R., Pasternak, A., Tang, W., Gu, B., Young, S. D., … Day, J. (2024). Longitudinal assessment of the Adapted Test for Neuromuscular Disease (ATEND) in individuals living with spinal muscular atrophy (SMA). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Feasibility of assessing muscle oxygenation in patients with neuromuscular disease using near-infrared spectroscopy
  Tang, W., Salvatore, S., Khonde, S., Montalvo, S., de Monts, C., Smith, S., … Duong, T. (2024). Feasibility of assessing muscle oxygenation in patients with neuromuscular disease using near-infrared spectroscopy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Exploring muscle endurance in a neuromuscular population: insights from the assisted 6-minute cycling test combined with cardiopulmonary exercise testing and near-infrared spectroscopy
  Tang, W., de Monts, C., Montalvo, S., Young, S. D., Salvatore, S., Khonde, S., … Duong, T. (2024). Exploring muscle endurance in a neuromuscular population: insights from the assisted 6-minute cycling test combined with cardiopulmonary exercise testing and near-infrared spectroscopy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Exploring hand myotonia: assessing hand opening and individual finger movements through machine learning
  Duong, T., de Monts, C., McIntyre, M., Karatsidis, A., Juraver, A., Ataide, P., … Kanzler, C. (2024). Exploring hand myotonia: assessing hand opening and individual finger movements through machine learning. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Long-term motor responses to disease-modifying therapies in spinal muscular atrophy (SMA) adults: a prospective study
  Duong, T., Tang, W., Gu, B., Young, S. D., Corratti, G., Pasternak, A., … Day, J. (2024). Long-term motor responses to disease-modifying therapies in spinal muscular atrophy (SMA) adults: a prospective study. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort
  Hilsden, H., James, M., Dressman, H. G., Rufibach, L., Day, J., Mendell, J., … Straub, V. (2024). The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Minimal clinically important differences in dysferlinopathy from the 10year, multicenter Jain Clinical Outcome Study
  Gordish-Dressman, H., James, M., Rufibach, L., Hilsden, H., Day, J., Mendell, J., … Straub, V. (2024). Minimal clinically important differences in dysferlinopathy from the 10year, multicenter Jain Clinical Outcome Study. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Development and implementation of enhanced AI-derived DTI features for precision mapping of neural tract damage in myotonic dystrophy
  Kamali, T., Hageman, N., Yazdavar, T., Piccolli, C., Day, J., Sampson, J., & Wozniak, J. (2024). Development and implementation of enhanced AI-derived DTI features for precision mapping of neural tract damage in myotonic dystrophy. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.
- Micro-dystrophin expression and safety with delandistrogene moxeparvovec gene therapy for DMD in a broad population: phase 1B trial (ENDEAVOR)
  Proud, C., Zaidman, C., McDonald, C., Day, J., Thrasher, P., Asher, D., … Mendell, J. (2024). Micro-dystrophin expression and safety with delandistrogene moxeparvovec gene therapy for DMD in a broad population: phase 1B trial (ENDEAVOR). NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD.

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Clinical Trials

Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.

Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.

Open Trials Closed Trials

Pompe Disease Registry Protocol

Gene Transfer Study in Patients With Late Onset Pompe Disease

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

FUSION: A Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of ION363 in Amyotrophic Lateral Sclerosis Participants With Fused in Sarcoma Mutations (FUS-ALS)

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants

Investigate Safety, Tolerability, PK, PD and Efficacy of Risdiplam (RO7034067) in Infants With Type1 Spinal Muscular Atrophy

Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease

Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effect on Disease Progression of BIIB078 Administered to Previously Treated Adults C9ORF72-Associated Amyotrophic Lateral Sclerosis (ALS)

Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi

Study of SRP-4045 (Casimersen) and SRP-4053 (Golodirsen) in Participants With Duchenne Muscular Dystrophy (DMD)

Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies

Extension Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Who Previously Participated in a Study With Nusinersen

Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy

A Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)

An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy

A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec

A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic Lateral Sclerosis (ALS) and Participants With the ALS Ataxin-2 (ATXN2) Genetic Mutation

Specializing In

Practice Locations

Neuromuscular Program at the Neuroscience Health Center Palo Alto, CA

Palo Alto, CA

Neuromuscular Program at the Neuroscience Health Center

213 Quarry Rd

Palo Alto , CA 94304

(650) 723-6469

More Clinic Information

Stanford Neuroscience Health Center Palo Alto, CA

Palo Alto, CA

Stanford Neuroscience Health Center

213 Quarry Rd

Palo Alto , CA 94304

(650) 723-6469

More Clinic Information

Important Information about Our Organizations and Physician Affiliation

Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are each independent nonprofit organizations that are affiliated with but separate from each other and from Stanford University. The physicians who provide care at facilities operated by Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are faculty, foundation, or community physicians who are not employees, representatives, or agents of Stanford Health Care, Stanford Health Care Tri- Valley, or Stanford Medicine Partners. Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners do not exercise control over the care provided by such faculty, foundation, and community physicians and are not responsible for their actions.

Patient Ratings

(14 Ratings)

Overall Rating

5.0/5

View Ratings by Category

5.0/5

Friendliness

4.9/5

Explanations

5.0/5

Listens

5.0/5

Care provider's efforts to include you in decisions about your care

4.9/5

Recommended to others

0.0/5

Wait times

How Our Ratings Work

The Patients Ratings and comments are gathered from our Patient Satisfaction Survey and displayed in their entirety.

Patient Satisfaction Survey Disclaimer

Patient Reviews

(56 reviews)

Kind, patient, knowledgeable and communicated his findings in an easy to understand and empathetic way.

Nov 2024

•

Verified SHC Patient

Dr. Day was very thorough and asked questions to help get to the bottom of my problems.

Jul 2024

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Verified SHC Patient

He is consistently the best in his field, the most knowledgeable, the most caring, and one of the few who takes time and listens.

Sep 2023

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Verified SHC Patient

Dr. Day is an excellent Doctor and very dedicated to the muscular dystrophy community. His knowledge and information about the field and up-coming research is appreciated. Thank You Dr. Day!

Apr 2023

•

Verified SHC Patient

Excellent care and friendly staff

Jul 2022

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Verified SHC Patient

Takes his time and listens to all concerns and really never rushes you and reviews all notes from previous appts to be sure to review everything. Cares anbout husbpatients

Jul 2022

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Verified SHC Patient

I found the nueroscience team to be very thorough and impressive. I had met with two nuerologists elsewhere and though they gave me my illness they never really give altenatives to mitigate my probl nor give a full diagnosis of how my disease impacts so many concurrents problems.

Jul 2022

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Verified SHC Patient

Dr. Day is a knowledgeable, competent and caring specialist whom I trust and respect.

May 2022

•

Verified SHC Patient

Everyone from checking in with Robert to Jennifer the medical assistant, Dr Day, Micheleen, Dr Samson and the resident (I canâ€™t remember her name) was wonderful. Everyone was so knowledgeable, friendly and helpful. Very good experience.

Apr 2022

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Verified SHC Patient

Dr Day is amazing...deeply caring and knowledgeable.

Mar 2022

•

Verified SHC Patient

As always, kind, patient, engaged and informative.

Jan 2022

•

Verified SHC Patient

Dr. Day is the very best. Please treat him well!!!

Jan 2022

•

Verified SHC Patient

Dr. Day is amazing, I am so grateful to have him as my doctor.

Dec 2021

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Verified SHC Patient

He has always been very caring. He always asks if I have any other questions. He keeps current on all my health needs and concerns. He also has a great sense of humor and is very personable.

Dec 2021

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Verified SHC Patient

Dr. Dayâ€™s kindness, knowledge, and compassion cannot be overstated. His helpfulness is overwhelming, as is my deep appreciation for him, his advice, and his time.

Nov 2021

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Verified SHC Patient

Dr. John Day is an superlative medical expert who leverages his extensive medical knowledge, education, and reasoning skills to gain visibility into his patients problems. Based upon the information he collects, he then formulates a thoughtful course of action to treat the patient.

Oct 2021

•

Verified SHC Patient

Excellent, excellent doctor.

Sep 2021

•

Verified SHC Patient

He was thorough and interested and informative.

Aug 2021

•

Verified SHC Patient

I just might hire a skywriter! Stanford is the best!

Jul 2021

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Verified SHC Patient

Dr Day, Our family feels privileged to be under your care.

May 2021

•

Verified SHC Patient

Dr. Day is overworked & too busy. I never or rarely get a response back on my health. And the reason why I came in was to get some prescriptions - I didn't get that day & it had to be mailed to me later. I didn't get seen by respiratory therapist either which I was initially told I would be seen by them.

Oct 2020

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Verified SHC Patient

Although I was running late, Dr. Day was very accommodating and spent a lot of time talking with me and reviewing the medical records that I brought in. I was very appreciative of his time and advice with my medical concerns.

Dec 2019

•

Verified SHC Patient

Dr. Day is the best physician I have ever visited. Knowledgeable, kind, concerned, and caring.

Jun 2019

•

Verified SHC Patient

Dr. Day has been an empathetic and caring physician. He takes time needed to answer questions and come up with a thoughtful care plan. As a patient, I feel confident and grateful for his time and knowledge.

Feb 2019

•

Verified SHC Patient

Dr. Day was very thorough in his exam and in addressing my questions. He also provided a next step for how to address my condition/issues.

Dec 2018

•

Verified SHC Patient

Dr. Day is the leading national expert on my disease myotonic muscular dystrophy type? He is also a great human being. Best doctor at Stanford!

Oct 2018

•

Verified SHC Patient

He's fabulous. He's been a life saver. He has helped me with issues that I've seen many doctors for over ten years. He's the first person who understood my condition & knew what medication would help. I wish I had met him years ago.

Aug 2018

•

Verified SHC Patient

Excellent doctor. Thoughtful and considerate.

Apr 2018

•

Verified SHC Patient

On past visits I have had Dr. Day's undivided attention this time I felt like it was a bother to his day to see me.

Apr 2018

•

Verified SHC Patient

Dr. Day is the very best!! He is a keeper!!

Dec 2017

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Verified SHC Patient

Dr. Day inspires my confidence in every way via his thorough knowledge of dystrophy. I am so lucky to be in his care.

Jun 2017

•

Verified SHC Patient

Dr. Day's team is excellent!

Feb 2017

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Verified SHC Patient

Dr. Day is the best doctor I have ever met.

Nov 2016

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Verified SHC Patient

I love Dr. Day. He always spends any amount of time needed to make my visits complete. Never feel like he is in a rush to move on.

Jun 2016

•

Verified SHC Patient

This was our first appointment with Dr. Day and his staff. We are extremely pleased on all levels -

Mar 2016

•

Verified SHC Patient

Dr. Day was excellent!

Feb 2016

•

Verified SHC Patient

Dr. Day was very friendly and thorough.

Feb 2016

•

Verified SHC Patient

Very informative and helpful.

Feb 2016

•

Verified SHC Patient

Dr. Day is amazing!!

Jan 2016

•

Verified SHC Patient

He just doesn't do anything or explain anything. Fails to follow up as promised. Fails to communicate.

Jun 2015

•

Verified SHC Patient

Dr. Day was exceptional and Dr. Liberty fellow (first name I forgot last) was exceptional too.

May 2015

•

Verified SHC Patient

Never have any problem talking to Dr. Day.

Apr 2015

•

Verified SHC Patient

Dr. Day was excellent but I also met with social worker, PT, OT, genetic counselor, nurse.

Feb 2015

•

Verified SHC Patient

Dr. Day and his fellow are both very empathetic and embody the qualities a medical doctor should have.

Dec 2014

•

Verified SHC Patient

Best expertise for my condition.

Nov 2014

•

Verified SHC Patient

Dr. Day is, by far, the best physician I have ever used.

Nov 2014

•

Verified SHC Patient

There has been no follow up.

Oct 2014

•

Verified SHC Patient

Good.

Oct 2014

•

Verified SHC Patient

Dr. Day is a wonderful dr. Very caring!

Sep 2014

•

Verified SHC Patient

After receiving a life-changing diagnosis from Dr. John Day I was so overwhelmed with information by caregivers for 2+ hours! I didn't OR couldn't concentrate on anything after that. The time was overkill for a 1st appt.

Aug 2014

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Verified SHC Patient

My provider was very professional & they made sure to really go into detail, regarding my condition.

Aug 2014

•

Verified SHC Patient

I liked Dr. Day a lot. He is very kind and understanding. He listens when one speaks.

Feb 2014

•

Verified SHC Patient

We saw 5 different people - all informative & concise.

Feb 2014

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Verified SHC Patient

I have no diagnosis or recommendation for correcting problem.

Jan 2014

•

Verified SHC Patient

Dr. Day and all his staff made sure all my questions were answered. They didn't seem rushed to get out of the room.

Dec 2013

•

Verified SHC Patient

Told me what could be wrong. So I have some idea about my illness. Very helpful.

Dec 2013

•

Verified SHC Patient

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Referring Physicians

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You may also submit a web referral or complete a referral form and fax it to 650-320-9443 or email the Referral Center at ReferralCenter@stanfordhealthcare.org.

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John W. Day, MD, PhD

Neuromuscular neurologist, Neurophysiologist

Get In Touch

Professional Summary

Education & Certifications

Honors & Awards

Administrative Appointments

Publications

Clinical Trials

Specializing In

Practice Locations

Neuromuscular Program at the Neuroscience Health Center Palo Alto, CA

Neuromuscular Program at the Neuroscience Health Center

Stanford Neuroscience Health Center Palo Alto, CA

Stanford Neuroscience Health Center

Important Information about Our Organizations and Physician Affiliation

Patient Ratings

How Our Ratings Work

Patient Reviews

(56 reviews)

Referring Physicians

PHYSICIAN HELPLINE

New to MyHealth?

ALREADY HAVE AN ACCESS CODE?

DON'T HAVE AN ACCESS CODE?

NEED MORE DETAILS?

MyHealth for Mobile

WELCOME BACK

John W. Day, MD, PhD

Neuromuscular neurologist, Neurophysiologist

Get In Touch

Professional Summary

Education & Certifications

Honors & Awards

Administrative Appointments

Publications

Clinical Trials

Specializing In

Practice Locations

Neuromuscular Program at the Neuroscience Health Center Palo Alto, CA

Neuromuscular Program at the Neuroscience Health Center

Stanford Neuroscience Health Center Palo Alto, CA

Stanford Neuroscience Health Center

Important Information about Our Organizations and Physician Affiliation

Patient Ratings

How Our Ratings Work

Patient Reviews

(56 reviews)

Referring Physicians

PHYSICIAN HELPLINE