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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Reduced Basal Ganglia Volume Associated with the Gene for Huntington's Disease in Asymptomatic at-Risk Persons
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Predictive Testing for Huntington's Disease, Progress and Problems
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Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Genetic Linkage in Neurologic Diseases
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A Genetic Marker for Huntington's Chorea
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Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report
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Ehlers-Danlos Syndromes
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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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Dopa-Responsive Dystonia Revisited
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Aicardi-Gouti�res Syndrome
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Amyotrophic Lateral Sclerosis
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Unusual Variants of Alexander's Disease
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Hereditary Benign Chorea
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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