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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Genetics of Cluster Headache Takes a Leap
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Parkinson Disease Subtypes
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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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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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The Roussy-Levy Family:From the Original Description to the Gene
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
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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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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Dopamine, Dystonia, and the Deficient Co-Factor
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
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Clinical Genetics in Neurological Disease
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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
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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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Inherited Primary Peripheral Neuropathies
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Wilson Disease
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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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De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
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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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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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Genetic Linkage in Neurologic Diseases
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