The Tuberous Sclerosis Complex
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Molecular Genetics in Neurology
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Adrenoleukodystrophy
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Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
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Malignant Hyperthermia, Update on Susceptibility Testing
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
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Clinical Spectrum of CADASIL:A Study of 7 Families
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The Neurogenetic Genie:Testing for Huntington's Disease Mutation
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Presymptomatic Testing for Huntington's Disease in the United Kingdom
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The Psychological Consequences of Predictive Testing for Huntington's Disease
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Neurologic Crises in Hereditary Tyrosinemia
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Genetic Testing for Huntington's Disease
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Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
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Predictive Testing for Huntington's Disease, Progress and Problems
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Uptake of Presymptomatic Predictive Testing for Huntington's Disease
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Presymptomatic Detection of Huntington's Chorea
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Use of L-Dopa in the Detection of Presymptomatic Huntington's Chorea
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