A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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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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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 Neonate with Micrognathia and Hypotonia
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Bilateral Extraocular Muscle Atrophy in Myotonic Dystrophy Type 1
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SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
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Broadened Friedreich's Ataxia Phenotype after Gene Cloning, Minimal GAA Expan Causes Late Spastic Ataxia
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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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