Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
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Spinal Muscular Atrophy
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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The Tuberous Sclerosis Complex
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Malignant Hyperthermia, Update on Susceptibility Testing
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Rapid Antibody Test for Fragile X Syndrome
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Molecular Genetic Advances in Fragile X Syndrome
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Molecular Genetics in Neurology
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Disclosure of APOE Genotype for Risk of Alzheimers Disease
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
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Apolipoprotein E Genotyping in Alzheimer's Disease
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
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Genetics of Parkinsons Disease and Parkinsonism
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Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
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What Level of Care for the Neurofibromatoses?
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Practice Parameter:Genetic Testing Alert
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990
Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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