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Cavernous Maliformations of the Central Nervous System
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
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Diagnosis and New Treatments in Muscular Dystrophies
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A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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The Tuberous Sclerosis Complex
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Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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