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Wilson Disease
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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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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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Diagnosis and New Treatments in Muscular Dystrophies
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Aicardi-Gouti�res Syndrome
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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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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Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Dopamine, Dystonia, and the Deficient Co-Factor
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
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