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A 23-Year-Old Man With Seizures and Visual Deficit
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Neuroimaging Features of Biotinidase Deficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Unusual Variants of Alexander's Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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The Hereditary Spastic Paraplegias
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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
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Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Dopamine, Dystonia, and the Deficient Co-Factor
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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The Triumph of Linkage Analysis, Editorial
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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