Basil Darras, MD
Associate Neurologist-in-Chief; Chief, Division of Clinical Neurology; Director, Neuromuscular Center and Spinal Muscular Atrophy Program
Professor of Neurology, Harvard Medical School
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Basil Darras, MD
Associate Neurologist-in-Chief; Chief, Division of Clinical Neurology; Director, Neuromuscular Center and Spinal Muscular Atrophy Program
Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Greek
Education
Medical School
University of Athens Medical School
1977
Athens
Greece
Internship
University of Athens Hospital
1979
Athens
Greece
Residency
Nassau County Medical Center, Clinical Campus SUNY at Stony Brook
1982
Stony Brook
NY
Fellowship
Tufts Medical School, New England Medical Center
1985
Boston
MA
Fellowship
Yale University School of Medicine
1988
New Haven
CT
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
American Board of Pediatrics (General)
American Board of Medical Genetics and Genomics (Clinical Genetics)
Professional History
Dr. Darras serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
I focus in my practice on treating children with neuromuscular diseases, which present as problems of motor development and function.
I am Associate neurologist-in-Chief at Boston Children's Hospital and hold the Joseph J. Volpe Chair in Neurology at Harvard Medical School. I am the Chief of the division of clinical neurology in the Department of Neurology at the hospital. For 11 years, I ran the hospital's neurology residency training program and I was twice voted teacher of the year by neurology residents.
My special focus is in the care of children with neuromuscular conditions originating from inherited or acquired conditions of the motor unit. These include patients with complex muscle diseases like muscular dystrophies and congenital or metabolic myopathies, neuromuscular transmission defects, neuropathies, motor neuronopathies, and also inflammatory muscle or nerve conditions. Further, I see patients with general neurological problems such seizures when I attend on the inpatient neurology services.
Following medical school in Greece and residencies in pediatrics and child neurology at the State University of New York at Stony Brook and Tufts Medical Center, respectively. I completed a post-doctoral fellowship at Yale in genetics, which gives me a unique lens through which I approach problems of childhood motor development.
When I was training in neurology, I gravitated toward neuromuscular cases. The fact that many have a genetic basis appealed to me. I felt that there was a higher probability of finding a treatment if we could understand the pathogenesis of the diseases.
At Boston Children's Hospital, I am proud to be involved with two innovative multi-disciplinary clinical programs. I direct the Neuromuscular Program, which provides diagnostic evaluation and therapeutic services for children with neuromuscular diseases and is one largest of its kind in the country; and the Spinal Muscular Atrophy (SMA) Clinical Research Program, which seeks to improve medical care of children with SMA and discover new treatments for this devastating motor neuron disease.
Through my clinical and research experience, as well as my hospital leadership roles, I have influenced care in the field of pediatric neuromuscular diseases both nationally and internationally.
Approach to Care
During my childhood in Greece, my parents instilled in me intellectual curiosity, the ambition to excel, and personal values focused on service. My approach to care reflects my interest in the genetic basis of neurological disease and my desire to practice on the forefront of clinical care and research.
I was born and raised in Greece and was strongly influenced by a number of doctors in my family. One of my uncles would let me watch him treat patients and help him give immunizations in schools.
I earned my country's highest marks on nationwide tests to be admitted to medical school, and graduated from Athens University School of Medicine at the top of my class. But I became frustrated by the system that controlled access to further training in pediatrics (I was required to wait three to four years), so I came to the U.S. for my residency. I had planned to return to Greece, but stayed in the U.S. due to the enormous opportunities here to do research and care for patients at the highest possible level.
I am motivated to find cures for children with neuromuscular disorders. I have trained and published extensively as a basic scientist, but was not fulfilled by researching and diagnosing patients alone without helping to improve their lives and outcomes. As a result, I've become very active in clinical research and am excited to be practicing and researching at a time in the field when powerful new resources are at our disposal.
I was born and raised in Greece and was strongly influenced by a number of doctors in my family. One of my uncles would let me watch him treat patients and help him give immunizations in schools.
I earned my country's highest marks on nationwide tests to be admitted to medical school, and graduated from Athens University School of Medicine at the top of my class. But I became frustrated by the system that controlled access to further training in pediatrics (I was required to wait three to four years), so I came to the U.S. for my residency. I had planned to return to Greece, but stayed in the U.S. due to the enormous opportunities here to do research and care for patients at the highest possible level.
I am motivated to find cures for children with neuromuscular disorders. I have trained and published extensively as a basic scientist, but was not fulfilled by researching and diagnosing patients alone without helping to improve their lives and outcomes. As a result, I've become very active in clinical research and am excited to be practicing and researching at a time in the field when powerful new resources are at our disposal.
Publications
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1. View Abstract
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset. View Abstract
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study. View Abstract
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. View Abstract
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded. View Abstract
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations. View Abstract
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. View Abstract
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study. View Abstract
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3. View Abstract
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy. View Abstract
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. View Abstract
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility. View Abstract
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study. View Abstract
Neuromuscular problems of the critically Ill neonate and child. View Abstract
Survival among patients receiving eteplirsen for up to 8?years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls. View Abstract
Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study. View Abstract
Challenges and opportunities in spinal muscular atrophy therapeutics. View Abstract
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. View Abstract
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. View Abstract
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. View Abstract
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era. View Abstract
Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial. View Abstract
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. View Abstract
Translating fatigability in spinal muscular atrophy to clinical trials and management. View Abstract
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. View Abstract
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. View Abstract
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment. View Abstract
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment. View Abstract
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). View Abstract
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. View Abstract
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA. View Abstract
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes. View Abstract
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. View Abstract
Spinal muscular atrophy. View Abstract
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study. View Abstract
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. View Abstract
Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. View Abstract
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach. View Abstract
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. View Abstract
Reply to: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy. View Abstract
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. View Abstract
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients. View Abstract
A tale of two diseases: spinal muscular atrophy and Pompe disease. View Abstract
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. View Abstract
Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. View Abstract
Different trajectories in upper limb and gross motor function in spinal muscular atrophy. View Abstract
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. View Abstract
Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. View Abstract
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. View Abstract
Nusinersen Treatment in Adults With Spinal Muscular Atrophy. View Abstract
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. View Abstract
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. View Abstract
Putting the patient first: The validity and value of surface-based electrical impedance myography techniques. View Abstract
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. View Abstract
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen. View Abstract
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. View Abstract
Risdiplam in Type 1 Spinal Muscular Atrophy. View Abstract
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. View Abstract
Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy. View Abstract
Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. View Abstract
Medical management of muscle weakness in Duchenne muscular dystrophy. View Abstract
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. View Abstract
Clinical Variability in Spinal Muscular Atrophy Type III. View Abstract
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. View Abstract
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. View Abstract
Gain and loss of abilities in type II SMA: A 12-month natural history study. View Abstract
Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials. View Abstract
Longitudinal natural history of type I spinal muscular atrophy: a critical review. View Abstract
Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease. View Abstract
Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated". View Abstract
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. View Abstract
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1. View Abstract
The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. View Abstract
Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials. View Abstract
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. View Abstract
Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. View Abstract
Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit. View Abstract
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. View Abstract
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy. View Abstract
Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. View Abstract
Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. View Abstract
Neurofilament as a potential biomarker for spinal muscular atrophy. View Abstract
X-linked myotubular myopathy: A prospective international natural history study. View Abstract
Systemic nature of spinal muscular atrophy revealed by studying insurance claims. View Abstract
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. View Abstract
Exploring the relationship between electrical impedance myography and quantitative ultrasound parameters in Duchenne muscular dystrophy. View Abstract
Revised upper limb module for spinal muscular atrophy: 12?month changes. View Abstract
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. View Abstract
Functional Mixed-Effects Modeling of Longitudinal Duchenne Muscular Dystrophy Electrical Impedance Myography Data Using State-Space Approach. View Abstract
Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial. View Abstract
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. View Abstract
Precious SMA natural history data: A benchmark to measure future treatment successes. View Abstract
Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! View Abstract
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. View Abstract
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. View Abstract
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. View Abstract
Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center. View Abstract
Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. View Abstract
Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope. View Abstract
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. View Abstract
Electrophysiologic Features of Radial Neuropathy in Childhood and Adolescence. View Abstract
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. View Abstract
Evaluator Training and Reliability for SMA Global Nusinersen Trials1. View Abstract
Natural history of infantile-onset spinal muscular atrophy. View Abstract
NeuroNEXT is at your service. View Abstract
Clinical and genetic characterization of AP4B1-associated SPG47. View Abstract
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. View Abstract
Muscle compression improves reliability of ultrasound echo intensity. View Abstract
X-linked myotubular myopathy: Living longer and awaiting treatment. View Abstract
Electrical impedance myography for assessment of Duchenne muscular dystrophy. View Abstract
Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy. View Abstract
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. View Abstract
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. View Abstract
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. View Abstract
Electrophysiologic features of ulnar neuropathy in childhood and adolescence. View Abstract
Spectrum of Nondystrophic Skeletal Muscle Channelopathies in Children. View Abstract
Revised upper limb module for spinal muscular atrophy: Development of a new module. View Abstract
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. View Abstract
Electrophysiologic features of fibular neuropathy in childhood and adolescence. View Abstract
Loss of electrical anisotropy is an unrecognized feature of dystrophic muscle that may serve as a convenient index of disease status. View Abstract
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. View Abstract
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. View Abstract
Developmental milestones in type I spinal muscular atrophy. View Abstract
Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents. View Abstract
Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis. View Abstract
Force-controlled ultrasound to measure passive mechanical properties of muscle in Duchenne muscular dystrophy. View Abstract
Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis. View Abstract
Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up. View Abstract
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. View Abstract
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. View Abstract
Physical therapy services received by individuals with spinal muscular atrophy (SMA). View Abstract
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. View Abstract
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy. View Abstract
Dystrophinopathies. View Abstract
Old measures and new scores in spinal muscular atrophy patients. View Abstract
Spinal muscular atrophies. View Abstract
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. View Abstract
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. View Abstract
Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques. View Abstract
Inter-session reliability of electrical impedance myography in children in a clinical trial setting. View Abstract
Congenital myopathies: Rebuilding the natural history, one gene at a time. View Abstract
Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment. View Abstract
Reply: To PMID 23893312. View Abstract
Observational study of spinal muscular atrophy type I and implications for clinical trials. View Abstract
Optimizing electrical impedance myography measurements by using a multifrequency ratio: a study in Duchenne muscular dystrophy. View Abstract
Minimal training is required to reliably perform quantitative ultrasound of muscle. View Abstract
Referral and diagnostic trends in pediatric electromyography in the molecular era. View Abstract
Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis. View Abstract
The motor neuron response to SMN1 deficiency in spinal muscular atrophy. View Abstract
Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting. View Abstract
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. View Abstract
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. View Abstract
A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy. View Abstract
Neuromuscular disorders: from diagnosis to translational research, drug development and clinical trials. View Abstract
Current advances in drug development in spinal muscular atrophy. View Abstract
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. View Abstract
Lambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review. View Abstract
Predicting hearing loss in facioscapulohumeral muscular dystrophy. View Abstract
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. View Abstract
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. View Abstract
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. View Abstract
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. View Abstract
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. View Abstract
SMA-MAP: a plasma protein panel for spinal muscular atrophy. View Abstract
Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities. View Abstract
Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders. View Abstract
Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. View Abstract
Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series. View Abstract
Prospective cohort study of spinal muscular atrophy types 2 and 3. View Abstract
Case of infantile onset spinocerebellar ataxia type 5. View Abstract
The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years. View Abstract
Machine learning algorithms to classify spinal muscular atrophy subtypes. View Abstract
Electrical impedance myography in spinal muscular atrophy: a longitudinal study. View Abstract
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. View Abstract
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. View Abstract
More can be less: SMN1 gene duplications are associated with sporadic ALS. View Abstract
Spinal muscular atrophy: a clinical and research update. View Abstract
Autoimmune neuromuscular disorders in childhood. View Abstract
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. View Abstract
Non-5q spinal muscular atrophies: the alphanumeric soup thickens. View Abstract
Child neurology residency training in neuromuscular disorders. View Abstract
Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy. View Abstract
Pediatric sciatic neuropathies: a 30-year prospective study. View Abstract
Assessing spinal muscular atrophy with quantitative ultrasound. View Abstract
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. View Abstract
Pediatric sciatic neuropathy associated with neoplasms. View Abstract
Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). View Abstract
Assessing electrical impedance alterations in spinal muscular atrophy via the finite element method. View Abstract
Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. View Abstract
Characterizing spinal muscular atrophy with electrical impedance myography. View Abstract
Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. View Abstract
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. View Abstract
Assessing spinal muscular atrophy with quantitative ultrasound. View Abstract
Electrophysiologic evidence for anterior horn cell disease in amyoplasia. View Abstract
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. View Abstract
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. View Abstract
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. View Abstract
Child neurology: past, present, and future: part 2: Present training structure. View Abstract
Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations. View Abstract
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. View Abstract
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. View Abstract
Congenital myasthenic syndrome with episodic apnea. View Abstract
Juvenile myasthenia gravis. View Abstract
The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood. View Abstract
Pediatric sciatic neuropathies due to unusual vascular causes. View Abstract
Motor variant of chronic inflammatory demyelinating polyneuropathy in a child. View Abstract
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. View Abstract
Inherited myopathies and muscular dystrophies. View Abstract
Clinical trials in spinal muscular atrophy. View Abstract
LGMD2I in a North American population. View Abstract
Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. View Abstract
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. View Abstract
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. View Abstract
Posterior spinal fusion for scoliosis in duchenne muscular dystrophy diminishes the rate of respiratory decline. View Abstract
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. View Abstract
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. View Abstract
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. View Abstract
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. View Abstract
Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). View Abstract
Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. View Abstract
Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. View Abstract
Association of Duchenne muscular dystrophy with autism spectrum disorder. View Abstract
Thalidomide neuropathy in childhood. View Abstract
Electroencephalographic correlate of juvenile Huntington's disease. View Abstract
Neuromuscular problems of the critically ill neonate and child. View Abstract
Multifocal slowing of nerve conduction in metachromatic leukodystrophy. View Abstract
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. View Abstract
Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). View Abstract
Paediatric mononeuritis multiplex: a report of three cases and review of the literature. View Abstract
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. View Abstract
Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders. View Abstract
Peroneal neuropathy from ankle-foot orthoses. View Abstract
Rod photoreceptor function in children with mitochondrial disorders. View Abstract
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. View Abstract
Osteoid osteoma presenting with focal neurologic signs. View Abstract
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. View Abstract
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. View Abstract
Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease. View Abstract
Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. View Abstract
Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. View Abstract
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. View Abstract
Metabolic myopathies: a clinical approach; part II. View Abstract
Metabolic myopathies: a clinical approach; part I. View Abstract
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. View Abstract
Acute care pediatric electromyography. View Abstract
Role of EMG in the evaluation of presumed myopathies in the era of DNA analysis. View Abstract
Acute care pediatric electromyography. View Abstract
Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. View Abstract
Neuromuscular disorders in the newborn. View Abstract
Clonal analysis of meningiomas. View Abstract
Clonal analysis of human astrocytomas. View Abstract
Frequency of p53 tumor suppressor gene mutations in human primary brain tumors. View Abstract
Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations. View Abstract
Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. View Abstract
Aggressive oligodendroglioma predicted by chromosome 10 restriction fragment length polymorphism analysis. Case study. View Abstract
Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. View Abstract
Eastern equine encephalitis presenting with a focal brain lesion. View Abstract
A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. View Abstract
Loss of heterozygosity on the short arm of chromosome 17 in human astrocytomas. View Abstract
Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. View Abstract
Origin of mutations in two families with X-linked chronic granulomatous disease. View Abstract
Molecular genetics of Duchenne and Becker muscular dystrophy. View Abstract
The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. View Abstract
Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. View Abstract
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. View Abstract
[Apical hypertrophic myocardiopathy with mid-ventricular obstruction and apical necrosis]. View Abstract
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. View Abstract
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. View Abstract
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. View Abstract
[[Doppler echocardiography in the diagnosis of tri-atrial heart in adults]. View Abstract
Intermittent dystonia in Hartnup disease. View Abstract
Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. View Abstract
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. View Abstract
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. View Abstract
[Evaluation by Doppler ultrasound of the severity of aortic stenoses. Application of the continuity equation]. View Abstract
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. View Abstract
[Compared validity of the criteria of quantification of aortic insufficiency using pulsed and continuous Doppler]. View Abstract
Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. View Abstract
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. View Abstract
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. View Abstract
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. View Abstract
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. View Abstract
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. View Abstract
[Pulsed and continuous Doppler in qualitative and quantitative diagnosis of mitral insufficiency]. View Abstract
Globoid cell leukodystrophy: cranial computed tomography and evoked potentials. View Abstract
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. View Abstract
Viral and bacterial pathogens of suspected sepsis in young infants. View Abstract
Lyme disease with neurologic abnormalities. View Abstract
[Valvular aortic regurgitation and stenosis in adults]. View Abstract
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