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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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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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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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Duchenne Muscular Dystrophy
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Huntington Disease: Clinical Features and Diagnosis
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Genetic Aspects of Alzheimer Disease
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Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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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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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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Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
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Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
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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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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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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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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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