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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Spinal Muscular Atrophy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A Neonate with Micrognathia and Hypotonia
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A Young Man with Progressive Vision and Hearing Loss
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Neurological Management of Von Hippel-Lindau Disease
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Molybdenum Cofactor Deficiency
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A 52-year-old Woman with Progressive Proximal Weakness
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The Limbic-Girdle Muscular Dystrophies
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Genetic Aspects of Alzheimer Disease
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Diagnosis and New Treatments in Muscular Dystrophies
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Autism
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The Floppy Infant: Evaluation of Hypotonia
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Tuberous Sclerosis Complex
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Glycogen-Storage Disease Type II
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Sensorineural Hearing Loss in Children
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Adrenoleukodystrophy
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Inclusion Body Myositis in Twins
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Prader-Willi and Angelman Syndromes
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