Basil Darras's research has focused on the molecular genetics, diagnostics and therapeutics of pediatric neuromuscular diseases. Two conditions he specializes in, from a clinical and research perspective, are Duchenne muscular dystrophy (DMD) and spinal muscular atrophy. He was one of the first to describe germline mosaicism in DMD, a biological phenomenon with important implications for the genetic counseling of affected families.

Through his clinical and research experience, shared in papers, chapters, books and conference presentations, Dr. Darras has influenced clinical care in the field of pediatric neuromuscular diseases both nationally and internationally. He has contributed significantly to the development of methodologies for DNA-based molecular diagnostics of the muscular dystrophies. Further, he has attempted to define the indications for the new diagnostic tests, re-delineate the role of traditional procedures and develop algorithms illustrating the recommended diagnostic approach to the evaluation of children with neuromuscular diseases.

Dr. Darras is also actively working to further research in spinal muscular atrophy (SMA). He has joined top clinicians and researchers in New York City and Philadelphia to create the Pediatric Neuromuscular Clinical Research (PNCR) Network. This project, funded by the SMA Foundation, seeks to develop the necessary infrastructure for efficient phase I and II clinical trials in patients with SMA. These trials will be aimed at testing candidate drugs, using innovative clinical trial designs to minimize study duration and sample size. In building the infrastructure for clinical trials, Dr. Darras was the principal investigator for an observational study to learn more about the natural history of SMA and to ascertain the outcome measures available for future trials. The results of this study will be published in the near future. More information about the PNCR network and its current research studies on SMA can be found at: http://www.urmc.edu/sma.


Basil Darras received his MD from the University of Athens, Greece. He completed an internship and residency in pediatrics at the State University of New York at Stonybrook and fellowships in Child Neurology and Medical Genetics at Tufts-New England Medical Center and Yale University School of Medicine, respectively. He is currently Director of the Division of Clinical Neurology at Boston Children's Hospital and Professor of Neurology at Harvard Medical School.


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  1. Putting the patient first: The validity and value of surface-based electrical impedance myography techniques. Clin Neurophysiol. 2021 Apr 20. View abstract
  2. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 Apr 13. View abstract
  3. Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. Am J Speech Lang Pathol. 2021 Apr 06; 1-15. View abstract
  4. 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 Neurol. 2021 04; 20(4):284-293. View abstract
  5. Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med. 2021 03 11; 384(10):915-923. View abstract
  6. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics. 2021 Feb 23. View abstract
  7. Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. Ann Neurol. 2021 01; 89(1):24-26. View abstract
  8. Medical management of muscle weakness in Duchenne muscular dystrophy. PLoS One. 2020; 15(10):e0240687. View abstract
  9. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology. 2021 01 26; 96(4):e587-e599. View abstract
  10. Clinical Variability in Spinal Muscular Atrophy Type III. Ann Neurol. 2020 12; 88(6):1109-1117. View abstract
  11. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. View abstract
  12. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 10; 9(14):973-984. View abstract
  13. Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscul Disord. 2020 09; 30(9):765-771. View abstract
  14. Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials. JAMA Neurol. 2020 06 01; 77(6):755-763. View abstract
  15. Longitudinal natural history of type I spinal muscular atrophy: a critical review. Orphanet J Rare Dis. 2020 04 05; 15(1):84. View abstract
  16. Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease. Pediatr Neurol. 2020 08; 109:12-19. View abstract
  17. Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated". J Child Neurol. 2020 03; 35(4):302-303. View abstract
  18. The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. Neurotherapeutics. 2020 01; 17(1):142-152. View abstract
  19. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. J Neuromuscul Dis. 2020; 7(2):97-100. View abstract
  20. Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1. J Neuromuscul Dis. 2020; 7(2):183-192. View abstract
  21. Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials. Ann Clin Transl Neurol. 2020 01; 7(1):4-14. View abstract
  22. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. View abstract
  23. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve. 2020 01; 61(1):26-35. View abstract
  24. Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit. J Child Neurol. 2020 01; 35(1):17-24. View abstract
  25. An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. CNS Drugs. 2019 09; 33(9):919-932. View abstract
  26. Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. Muscle Nerve. 2019 10; 60(4):409-414. View abstract
  27. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 Jun; 6(6):1106-1112. View abstract
  28. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology. 2019 05 21; 92(21):e2492-e2506. View abstract
  29. Neurofilament as a potential biomarker for spinal muscular atrophy. Ann Clin Transl Neurol. 2019 May; 6(5):932-944. View abstract
  30. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019 04 16; 92(16):e1852-e1867. View abstract
  31. Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One. 2019; 14(3):e0213680. View abstract
  32. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019 Apr; 5(2):e312. View abstract
  33. Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy. Clin Neurophysiol. 2019 04; 130(4):515-520. View abstract
  34. Revised upper limb module for spinal muscular atrophy: 12?month changes. Muscle Nerve. 2019 04; 59(4):426-430. View abstract
  35. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 03; 7(3):e552. View abstract
  36. Functional Mixed-Effects Modeling of Longitudinal Duchenne Muscular Dystrophy Electrical Impedance Myography Data Using State-Space Approach. IEEE Trans Biomed Eng. 2019 06; 66(6):1761-1768. View abstract
  37. Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial. Muscle Nerve. 2018 11; 58(5):639-645. View abstract
  38. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 09 25; 9(1):3906. View abstract
  39. Precious SMA natural history data: A benchmark to measure future treatment successes. Neurology. 2018 08 21; 91(8):337-339. View abstract
  40. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Contemp Clin Trials Commun. 2018 Sep; 11:113-119. View abstract
  41. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. Pediatr Phys Ther. 2018 07; 30(3):209-215. View abstract
  42. Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. PLoS One. 2018; 13(6):e0199657. View abstract
  43. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19(1):291. View abstract
  44. Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center. J Child Neurol. 2018 05; 33(6):389-396. View abstract
  45. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. Neuromuscul Disord. 2018 06; 28(6):512-519. View abstract
  46. Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope. Exp Ther Med. 2018 Apr; 15(4):3671-3672. View abstract
  47. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 02 15; 378(7):625-635. View abstract
  48. Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence. Pediatr Neurol. 2018 04; 81:14-18. View abstract
  49. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis. 2018; 5(2):145-158. View abstract
  50. Evaluator Training and Reliability for SMA Global Nusinersen Trials1. J Neuromuscul Dis. 2018; 5(2):159-166. View abstract
  51. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891. View abstract
  52. NeuroNEXT is at your service. Ann Neurol. 2017 12; 82(6):857-858. View abstract
  53. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318. View abstract
  54. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 11 02; 377(18):1723-1732. View abstract
  55. Muscle compression improves reliability of ultrasound echo intensity. Muscle Nerve. 2018 03; 57(3):423-429. View abstract
  56. X-linked myotubular myopathy: Living longer and awaiting treatment. Neurology. 2017 09 26; 89(13):1316-1317. View abstract
  57. Electrical impedance myography for assessment of Duchenne muscular dystrophy. Ann Neurol. 2017 May; 81(5):622-632. View abstract
  58. Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy. Ann Neurol. 2017 May; 81(5):633-640. View abstract
  59. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017 07; 58:34-39. View abstract
  60. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol. 2017 Feb 23; 17(1):39. View abstract
  61. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One. 2017; 12(2):e0172346. View abstract
  62. Electrophysiologic features of ulnar neuropathy in childhood and adolescence. Clin Neurophysiol. 2017 05; 128(5):751-755. View abstract
  63. Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. Pediatr Neurol. 2017 05; 70:26-33. View abstract
  64. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle Nerve. 2017 06; 55(6):869-874. View abstract
  65. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View abstract
  66. Electrophysiologic features of fibular neuropathy in childhood and adolescence. Muscle Nerve. 2017 05; 55(5):693-697. View abstract
  67. Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status. Clin Neurophysiol. 2016 Dec; 127(12):3546-3551. View abstract
  68. Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy. Muscle Nerve. 2016 12; 54(6):1097-1107. View abstract
  69. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. View abstract
  70. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016 11; 26(11):754-759. View abstract
  71. Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents. J Pediatr. 2016 Nov; 178:227-232. View abstract
  72. Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. Pediatr Neurol. 2016 11; 64:83-86. View abstract
  73. Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy. Annu Int Conf IEEE Eng Med Biol Soc. 2016 Aug; 2016:2865-2868. View abstract
  74. Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis. J Ultrasound Med. 2016 Sep; 35(9):1889-97. View abstract
  75. Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up. Muscle Nerve. 2016 10; 54(4):681-9. View abstract
  76. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology. 2016 Mar 08; 86(10):890-7. View abstract
  77. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016 02; 3(2):132-45. View abstract
  78. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med. 2016; 9(1):35-44. View abstract
  79. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord. 2016 Feb; 26(2):126-31. View abstract
  80. Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy. Muscle Nerve. 2015 Dec; 52(6):942-7. View abstract
  81. Dystrophinopathies. Semin Neurol. 2015 Aug; 35(4):369-84. View abstract
  82. Old measures and new scores in spinal muscular atrophy patients. Muscle Nerve. 2015 Sep; 52(3):435-7. View abstract
  83. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun; 62(3):743-66. View abstract
  84. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. Muscle Nerve. 2015 Apr; 51(4):522-32. View abstract
  85. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar; 3(2):92-8. View abstract
  86. Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques. Muscle Nerve. 2015 Feb; 51(2):207-13. View abstract
  87. Inter-session reliability of electrical impedance myography in children in a clinical trial setting. Clin Neurophysiol. 2015 Sep; 126(9):1790-6. View abstract
  88. Congenital myopathies: Rebuilding the natural history, one gene at a time. Neurology. 2015 Jan 06; 84(1):15-6. View abstract
  89. Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment. Pediatr Neurol. 2015 Feb; 52(2):202-5. View abstract
  90. Reply: To PMID 23893312. Muscle Nerve. 2014 Sep; 50(3):458-9. View abstract
  91. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26; 83(9):810-7. View abstract
  92. Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy. Clin Neurophysiol. 2015 Jan; 126(1):202-8. View abstract
  93. Minimal training is required to reliably perform quantitative ultrasound of muscle. Muscle Nerve. 2014 Jul; 50(1):124-8. View abstract
  94. Referral and diagnostic trends in pediatric electromyography in the molecular era. Muscle Nerve. 2014 Aug; 50(2):244-9. View abstract
  95. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve. 2014 May; 49(5):636-44. View abstract
  96. Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis. JAMA Neurol. 2014 May; 71(5):575-80. View abstract
  97. Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting. Pediatr Neurol. 2014 Jul; 51(1):88-92. View abstract
  98. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatr Neurol. 2014 Jun; 50(6):557-63. View abstract
  99. Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity. Bone Joint J. 2014 Jan; 96-B(1):100-5. View abstract
  100. A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy. PLoS Curr. 2013 Dec 12; 5. View abstract
  101. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013 Dec; 25(6):682-8. View abstract
  102. Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials. Curr Opin Pediatr. 2013 Dec; 25(6):674-5. View abstract
  103. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View abstract
  104. Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review. Pediatr Neurol. 2014 Jan; 50(1):11-7. View abstract
  105. Predicting hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Oct 15; 81(16):1370-1. View abstract
  106. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. View abstract
  107. Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology. 2013 Aug 13; 81(7):e44-5. View abstract
  108. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. View abstract
  109. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 2013 Jun; 70(6):788-91. View abstract
  110. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord. 2013 Jul; 23(7):529-39. View abstract
  111. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. View abstract
  112. Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities. Muscle Nerve. 2013 Apr; 47(4):488-92. View abstract
  113. Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. Neurology. 2013 Jan 29; 80(5):426-7. View abstract
  114. Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. J Phys Conf Ser. 2013; 434(1). View abstract
  115. Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series. Neuromuscul Disord. 2013 Feb; 23(2):103-11. View abstract
  116. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97. View abstract
  117. Case of infantile onset spinocerebellar ataxia type 5. J Child Neurol. 2013 Oct; 28(10):1292-5. View abstract
  118. The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. Pediatr Neurol. 2012 Aug; 47(2):97-100. View abstract
  119. Machine learning algorithms to classify spinal muscular atrophy subtypes. Neurology. 2012 Jul 24; 79(4):358-64. View abstract
  120. Electrical impedance myography in spinal muscular atrophy: a longitudinal study. Muscle Nerve. 2012 May; 45(5):642-7. View abstract
  121. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59. View abstract
  122. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View abstract
  123. More can be less: SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13; 78(11):770-1. View abstract
  124. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012 Jan; 46(1):1-12. View abstract
  125. Autoimmune neuromuscular disorders in childhood. Curr Treat Options Neurol. 2011 Dec; 13(6):590-607. View abstract
  126. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011 Dec; 26(12):1499-507. View abstract
  127. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology. 2011 Jul 26; 77(4):312-4. View abstract
  128. Child neurology residency training in neuromuscular disorders. Semin Pediatr Neurol. 2011 Jun; 18(2):116-9. View abstract
  129. Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy. J Child Neurol. 2011 Oct; 26(10):1252-9. View abstract
  130. Pediatric sciatic neuropathies: a 30-year prospective study. Neurology. 2011 Mar 15; 76(11):976-80. View abstract
  131. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2011 Mar 08; 76(10):933; author reply 933-4. View abstract
  132. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011 Jun; 68(6):779-86. View abstract
  133. Pediatric sciatic neuropathy associated with neoplasms. Muscle Nerve. 2011 Feb; 43(2):183-8. View abstract
  134. Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method. Annu Int Conf IEEE Eng Med Biol Soc. 2011; 2011:1871-4. View abstract
  135. Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011; 23(4):322-6. View abstract
  136. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. Pediatrics. 2011 Jan; 127(1):e132-6. View abstract
  137. Characterizing spinal muscular atrophy with electrical impedance myography. Muscle Nerve. 2010 Dec; 42(6):915-21. View abstract
  138. Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol. 2011 Mar; 26(3):309-17. View abstract
  139. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol. 2010 Oct; 67(10):1252-6. View abstract
  140. Assessing spinal muscular atrophy with quantitative ultrasound. Neurology. 2010 Aug 10; 75(6):526-31. View abstract
  141. Electrophysiologic evidence for anterior horn cell disease in amyoplasia. Pediatr Neurol. 2010 Aug; 43(2):142-7. View abstract
  142. Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord. 2010 Jul; 20(7):448-52. View abstract
  143. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50. View abstract
  144. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010 Mar 09; 74(10):833-8. View abstract
  145. Child neurology: past, present, and future: part 2: Present training structure. Neurology. 2010 Feb 09; 74(6):e17-9. View abstract
  146. Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations. Muscle Nerve. 2009 Nov; 40(5):860-3. View abstract
  147. Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet. 2009 Oct 18; 10:66. View abstract
  148. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1. View abstract
  149. Congenital myasthenic syndrome with episodic apnea. Pediatr Neurol. 2009 Jul; 41(1):42-5. View abstract
  150. Juvenile myasthenia gravis. Muscle Nerve. 2009 Apr; 39(4):423-31. View abstract
  151. The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood. Pediatr Cardiol. 2009 Apr; 30(3):306-10. View abstract
  152. Pediatric sciatic neuropathies due to unusual vascular causes. J Child Neurol. 2008 Jul; 23(7):738-41. View abstract
  153. Motor variant of chronic inflammatory demyelinating polyneuropathy in a child. Pediatr Neurol. 2008 Jun; 38(6):426-9. View abstract
  154. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4. View abstract
  155. Inherited myopathies and muscular dystrophies. Semin Neurol. 2008 Apr; 28(2):250-9. View abstract
  156. Clinical trials in spinal muscular atrophy. Curr Opin Pediatr. 2007 Dec; 19(6):675-9. View abstract
  157. LGMD2I in a North American population. BMC Musculoskelet Disord. 2007 Nov 24; 8:115. View abstract
  158. Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. Pediatr Cardiol. 2008 Mar; 29(2):343-51. View abstract
  159. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007 Oct; 17(9-10):693-7. View abstract
  160. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology. 2007 Apr 17; 68(16):1305-7. View abstract
  161. Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline. Spine (Phila Pa 1976). 2007 Feb 15; 32(4):459-65. View abstract
  162. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. View abstract
  163. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313. View abstract
  164. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4. View abstract
  165. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9. View abstract
  166. Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). Neuromuscul Disord. 2006 Aug; 16(8):492-4. View abstract
  167. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006 May; 8(5):289-96. View abstract
  168. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005 Oct; 20(10):790-5. View abstract
  169. Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. J Bone Joint Surg Am. 2005 Oct; 87(10):2267-75. View abstract
  170. Thalidomide neuropathy in childhood. Neuromuscul Disord. 2005 Feb; 15(2):172-6. View abstract
  171. Electroencephalographic correlate of juvenile Huntington's disease. J Child Neurol. 2004 Jul; 19(7):541-3. View abstract
  172. Neuromuscular problems of the critically ill neonate and child. Semin Pediatr Neurol. 2004 Jun; 11(2):147-68. View abstract
  173. Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve. 2004 Apr; 29(4):531-6. View abstract
  174. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol. 2003 Dec; 54(6):790-5. View abstract
  175. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood. 2004 Mar 15; 103(6):2401-3. View abstract
  176. Paediatric mononeuritis multiplex: a report of three cases and review of the literature. Neuromuscul Disord. 2003 Nov; 13(9):751-6. View abstract
  177. Peroneal neuropathy from ankle-foot orthoses. Pediatr Neurol. 2003 Jul; 29(1):72-4. View abstract
  178. Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders. Mayo Clin Proc. 2003 Jul; 78(7):858-68. View abstract
  179. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin Genet. 2003 Jul; 64(1):70-3. View abstract
  180. Rod photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol. 2002 Aug; 120(8):1055-62. View abstract
  181. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80. View abstract
  182. Osteoid osteoma presenting with focal neurologic signs. Pediatr Neurol. 2002 Feb; 26(2):148-52. View abstract
  183. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001; 2:17. View abstract
  184. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet. 2001 Sep 01; 102(4):359-67. View abstract
  185. Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease. J Child Neurol. 2001 Jul; 16(7):522-6. View abstract
  186. Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. Am J Med Genet. 2001 Jan 01; 98(1):101-2. View abstract
  187. Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol. 2000 Oct; 23(4):289-300. View abstract
  188. Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. Hum Mutat. 2000 Jul; 16(1):94. View abstract
  189. Metabolic myopathies: a clinical approach; part II. Pediatr Neurol. 2000 Mar; 22(3):171-81. View abstract
  190. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 01; 97(3):1212-7. View abstract
  191. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol. 2000 Feb; 22(2):87-97. View abstract
  192. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; (9):S53-62. View abstract
  193. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000; 9:S53-62. View abstract
  194. Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. Suppl Clin Neurophysiol. 2000; 53:133-8. View abstract
  195. Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):173-5. View abstract
  196. Neuromuscular disorders in the newborn. Clin Perinatol. 1997 Dec; 24(4):827-44. View abstract
  197. Clonal analysis of meningiomas. Neurosurgery. 1996 Jun; 38(6):1196-200; discussion 1200-1. View abstract
  198. Clonal analysis of human astrocytomas. J Neurooncol. 1994; 21(2):151-7. View abstract
  199. Frequency of p53 tumor suppressor gene mutations in human primary brain tumors. Neurosurgery. 1993 Nov; 33(5):824-30; discussion 830-1. View abstract
  200. Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations. Am J Hum Genet. 1993 Jun; 52(6):1273-5. View abstract
  201. Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. Neurol Res. 1993 Feb; 15(1):59-62. View abstract
  202. Aggressive oligodendroglioma predicted by chromosome 10 restriction fragment length polymorphism analysis. Case study. J Neurooncol. 1993 Jan; 15(1):29-35. View abstract
  203. Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. Neurol Res. 1993 Jan; 15(1):59-62. View abstract
  204. Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol. 1992 Nov-Dec; 8(6):473-5. View abstract
  205. A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev. 1992 Jul; 14(4):273-5. View abstract
  206. Loss of heterozygosity on the short arm of chromosome 17 in human astrocytomas. Neurol Res. 1992 Mar; 14(1):39-44. View abstract
  207. Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. Genomics. 1991 May; 10(1):1-9. View abstract
  208. Origin of mutations in two families with X-linked chronic granulomatous disease. Blood. 1990 Aug 01; 76(3):602-6. View abstract
  209. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr. 1990 Jul; 117(1 Pt 1):1-15. View abstract
  210. The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. Genomics. 1990 Mar; 6(3):540-4. View abstract
  211. Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. Gene. 1990 Feb 14; 86(2):209-16. View abstract
  212. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct; 45(4):498-506. View abstract
  213. [Apical hypertrophic myocardiopathy with mid-ventricular obstruction and apical necrosis]. Arch Mal Coeur Vaiss. 1989 Sep; 82(9):1623-7. View abstract
  214. Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am J Hum Genet. 1989 Aug; 45(2):276-82. View abstract
  215. Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet. 1989 Jul; 45(1):63-72. View abstract
  216. A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. J Biol Chem. 1989 Jun 25; 264(18):10595-600. View abstract
  217. [[Doppler echocardiography in the diagnosis of tri-atrial heart in adults]. Arch Mal Coeur Vaiss. 1989 Mar; 82(3):419-23. View abstract
  218. Intermittent dystonia in Hartnup disease. Pediatr Neurol. 1989 Mar-Apr; 5(2):118-20. View abstract
  219. Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. J Biol Chem. 1989 Feb 05; 264(4):2143-9. View abstract
  220. Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am J Hum Genet. 1988 Nov; 43(5):612-9. View abstract
  221. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet. 1988 Nov; 43(5):620-9. View abstract
  222. [Evaluation by Doppler ultrasound of the severity of aortic stenoses. Application of the continuity equation]. Arch Mal Coeur Vaiss. 1988 Aug; 81(8):973-81. View abstract
  223. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Am J Hum Genet. 1988 Aug; 43(2):126-30. View abstract
  224. [Compared validity of the criteria of quantification of aortic insufficiency using pulsed and continuous Doppler]. Arch Mal Coeur Vaiss. 1988 Jul; 81(7):895-901. View abstract
  225. Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. Genomics. 1988 Apr; 2(3):249-56. View abstract
  226. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet. 1988 Mar; 29(3):713-26. View abstract
  227. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature. 1987 Oct 8-14; 329(6139):556-8. View abstract
  228. Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med. 1987 Apr 16; 316(16):985-92. View abstract
  229. Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet. 1987 Mar; 40(3):212-27. View abstract
  230. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3-9; 322(6074):73-7. View abstract
  231. Globoid cell leukodystrophy: cranial computed tomography and evoked potentials. J Child Neurol. 1986 Apr; 1(2):126-30. View abstract
  232. [Pulsed and continuous Doppler in qualitative and quantitative diagnosis of mitral insufficiency]. Arch Mal Coeur Vaiss. 1986 Apr; 79(4):473-81. View abstract
  233. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. Neurology. 1986 Mar; 36(3):432-5. View abstract
  234. Viral and bacterial pathogens of suspected sepsis in young infants. Pediatr Infect Dis. 1983 Jul-Aug; 2(4):287-9. View abstract
  235. Lyme disease with neurologic abnormalities. Pediatr Infect Dis. 1983 Jan-Feb; 2(1):47-9. View abstract
  236. [Valvular aortic regurgitation and stenosis in adults]. Ann Cardiol Angeiol (Paris). 1982 Jun; 31(4):269-89. View abstract