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Bilateral Extraocular Muscle Atrophy in Myotonic Dystrophy Type 1
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A Neonate with Micrognathia and Hypotonia
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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
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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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
Neurol 54:608-614, Mirabella,M.,et al, 2000
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
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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Clinical Genetics in Neurological Disease
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Advances in Molecular Analysis of Fragile X Syndrome
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