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The Autosomal Recessive Cerebellar Ataxias
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Neuroimaging Features of Biotinidase Deficiency
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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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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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Spinocerebellar Ataxias and Ataxins
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Cavernous Maliformations of the Central Nervous System
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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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, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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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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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Familiality in Brain Tumors
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The Tuberous Sclerosis Complex
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Unusual Variants of Alexander's Disease
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Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
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The Hereditary Spastic Paraplegias
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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
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