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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
A 23-Year-Old Man With Seizures and Visual Deficit
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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The Hereditary Spastic Paraplegias
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Prader-Willi and Angelman Syndromes
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Wilson Disease
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
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Causal Heterogeneity in Isolated Lissencephaly
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