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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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The Roussy-Levy Family:From the Original Description to the Gene
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Clinical Genetics in Neurological Disease
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Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
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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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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
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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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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Parkinson Disease Subtypes
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Parental Transmission of MS in a Population-Based Canadian Cohort
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Patients with Multiple Sclerosis and Risk of Type 1 Diabetes Mellitus in Sardinia,Italy: A Cohort Study
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Prader-Willi and Angelman Syndromes
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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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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Chromosome 19 Single-Locus & Multilocus Haplotype Assoc with MS, Evid of New Suscept Locus in Caucasian & Chinese Pts
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Creutzfeldt-Jakob Disease in a Young Woman
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Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Natural History in Proximal Spinal Muscular Atrophy
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