The Autosomal Recessive Cerebellar Ataxias
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Whipples Disease
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Pediatric Leigh Syndrome
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinical and Genetic Aspects of Distal Myopathies
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Molecular Basis of the Neurodegenerative Disorders
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Prader-Willi and Angelman Syndromes
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Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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The Prevention of Neurogenetic Disease
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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
Neurol 44:1137-1143, Ashizawa,T.,et al, 1994
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
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Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993
Molecular Genetics in Neurology
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Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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