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Amyotrophic Lateral Sclerosis
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Creutzfeldt-Jakob Disease in a Young Woman
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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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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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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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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The Autosomal Recessive Cerebellar Ataxias
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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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Spinal Muscular Atrophy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Amyotrophic Lateral Sclerosis
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Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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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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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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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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DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
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Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
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Inherited Primary Peripheral Neuropathies
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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