Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Clinical Spectrum of CADASIL:A Study of 7 Families
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Molecular Genetics in Neurology
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