The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
Neurol 62:851-863, Ashwal,S.,et al, 2004
The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
JAMA 277:832-836, Post,S.G.,et al, 1997
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995
The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Conventional MRI and NOTCH3 Gene Screening in Sporadic CADASIL
Neurol 72:469-471, Liguori,M.,et al, 2009
What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997
Apolipoprotein E Genotyping in Alzheimer's Disease
Lancet 347:1091-1095, Tanzi,R.,et al, 1996
Practice Parameter:Genetic Testing Alert
Pract Comm Genet Testing Task Force AAN, Neurol 47:1343-13441996., , 1996
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
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
Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene
JAMA 270:2321-2325, Babul,R.,et al, 1993
Presymptomatic Testing for Huntington's Disease in the United Kingdom
BMJ 304:1593-1596, Tyler,A.,et al, 1992
The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992
Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990
Predictive Testing for Huntington's Disease, Progress and Problems
BMJ 298:404-405, 1989, Harper,P.S.&Morris,M.J., 1989
Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Presymptomatic Detection of Huntington's Chorea
BMJ 540, 1972 Sept., , 1972
Use of L-Dopa in the Detection of Presymptomatic Huntington's Chorea
NEJM 286:1332, Klawans,H.,et al, 1972