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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Huntington Disease: Clinical Features and Diagnosis
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
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GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
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Family History and DNA Analysis in Patients With Suspected Huntington's Disease
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Molecular Basis of the Neurodegenerative Disorders
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Patients with Features Similar to Huntington's Disease, Without CAG Expansion in Huntingtin
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Genetic Testing of Children at Risk for Huntington's Disease
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Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
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Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
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Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
Neurol 45:443-447, Britton,J.W.,et al, 1995
Dopa-Responsive parkinsonism Phenotype of Machado-Jospeh Disease:Confirmation of 14q CAG Expansion
Ann Neurol 48:684-687, Tuite,P.J.,et al, 1995
Clinical Genetics in Neurological Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
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Trinucleotide Repeat Expansion in Neurological Disease
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Clinical Consequences of Isolating the Gene for Huntington's Disease
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Molecular Genetics in Neurology
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The Polymerase Chain Reaction:Application to Nervous System Disease
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