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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Myotonic Dystrophy
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Muscular Dystrophies
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Zika Virus Associated with Microcephaly
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Spinal Muscular Atrophy A Timely Review
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Diagnosis and New Treatment in Muscle Channelopathies
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Tuberous Sclerosis
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Whipples Disease
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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The Tuberous Sclerosis Complex
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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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The Hereditary Spastic Paraplegias
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Prader-Willi and Angelman Syndromes
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Investigation of Muscle Disease
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Mitochondrial DNA and Disease
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Hereditary Hemorrhagic Telangiectasia
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Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
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GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Wilson Disease
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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