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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Neurofibromatosis Type I in Children
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Retinitis Pigmentosa
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Chronic Hexosaminidase A & B Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Molybdenum Cofactor Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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