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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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A 23-Year-Old Man With Seizures and Visual Deficit
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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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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Sturge-Weber Syndrome
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Amyotrophic Lateral Sclerosis
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The Autosomal Recessive Cerebellar Ataxias
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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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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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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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Genetics of Familial Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Amyotrophic Lateral Sclerosis
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Clinical and Genetic Aspects of Distal Myopathies
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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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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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Natural History in Proximal Spinal Muscular Atrophy
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Clinical Genetics in Neurological Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Reduced Basal Ganglia Volume Associated with the Gene for Huntington's Disease in Asymptomatic at-Risk Persons
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
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Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
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