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A 42-year-old man with unilateral leg weakness
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Neonate with Micrognathia and Hypotonia
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A 52-year-old Woman with Progressive Proximal Weakness
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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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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Recurrent Acroparaesthesia During Febrile Infections
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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Risk Factors for Creutzfeldt-Jakob Disease:A Reanalysis of Case-Control Studies
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Niemann-Pick Disease Type C from Bench to Bedside
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Clinical Spectrum of CADASIL:A Study of 7 Families
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