A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Trinucleotide Repeat Expansion in Neurological 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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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Persistent Respiratory Failure Following Cardiac Arrest
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Huntington Disease: Clinical Features and Diagnosis
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A Neonate with Micrognathia and Hypotonia
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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The Association of CAG Repeat Length with Clinical Progression in Huntington Disease
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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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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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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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Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
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iH NMR Spectroscopy Studies of Huntington's Disease, Correlations with CAG Repeat Numbers
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Patients with Features Similar to Huntington's Disease, Without CAG Expansion in Huntingtin
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
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CAG Repeat Number Governs the Development Rate of Pathology in Huntington's Disease
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Genetic Testing of Children at Risk for Huntington's Disease
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Relationship Between Trinucleotide Repeats and Neuropathological Changes in Huntington's Disease
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Trinucleotide Repeat Length and Clinical Progression in Huntington's Disease
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Psychiatric Symptoms Do Not Correlate with Cognitive Decline, Motor Sympt or CAG Repeat Length in Huntington's
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Motor Changes in Presymptomatic Huntington Disease Gene Carriers
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Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
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Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
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Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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Advances in Molecular Analysis of Fragile X Syndrome
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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CAG Repeat Size and Clinical Presentation in Huntington's Disease
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
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Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
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