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Spinal Muscular Atrophy
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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 52-year-old Woman with Progressive Proximal Weakness
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Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Myotonic Dystrophy
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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A Clinical Study of Noonan Syndrome
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