Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Disclosure of APOE Genotype for Risk of Alzheimers Disease
NEJM 361:245-254,298, Green,R.C.,et al, 2009
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
Apolipoprotein E Genotyping in Alzheimer's Disease
Lancet 347:1091-1095, Tanzi,R.,et al, 1996
Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Statement of Use of Apolipoprotein E Testing for Alzheimer Disease
JAMA 274:1627-1629, Farrer,L.A.,et al, 1995