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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
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Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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Clinicopathologic Conference, Invasive Neisseria Meningitidis Infection and Primary C8 Deficiency
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Molybdenum Cofactor Deficiency
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Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
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Alcohol and Alcoholism
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Heterogeneity of Coenzyme Q10 Deficiency
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Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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The Floppy Infant: Evaluation of Hypotonia
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Extension of the Clinical Spectrum of Danon Disease
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Neurologic Complications of Gastric Bypass Surgery for Morbid Obesity
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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West Nile Virus Neuroinvasive Disease
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The Tuberous Sclerosis Complex
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Glycogen-Storage Disease Type II
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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The Neurological Complications of Bariatric Surgery
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Spontaneous "Second Wind" and Glucose-Induced Second "Second Wind" in McArdle Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Acute Compartment Syndrome After Forearm Ischemic Work Test in a Patient with McArdle's Disease
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The Clinical Spectrum of Sarcoglycanopathies
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Intractable Epilepsy
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Prader-Willi and Angelman Syndromes
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Alcohol-Related Acute Axonal Polyneuropathy,A Differential Diagnosis of Guillain-Barre Syndrome
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Evaluation of Neurologic Function in Gulf War Veterans:A Blinded Case-Control Study
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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The Muscular Dystrophies-Clarity or Chaos
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Primary Adhalinopathy (x-Sarcoglycanopathy) :Clin, Path & Genetic Correl in 20 Pts with Autosomal Recessive Muscular Dystrophy
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Clinical Heterogeneity of Adhalin Deficiency
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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