Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
Neurol 88:1478-1479, Masson, R.,et al, 2017
Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutieres Syndrome
Neurol 86:28-35, La Piana, R.,et al, 2016
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004
Hyperhomocysteinemia in Cerebral Vein Thrombosis
Blood 102:1363-1366, Martinelli,I.,et al, 2003
Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003
Factor V Leiden Mutation is a Risk Factor for Cerebral Venous Thrombosis,A Case-Control Study of 55 Patients
Stroke 29:2507-2510, Ludemann,P.,et al, 1998
Cerebral Venous Sinus Thrombosis Associated with Factor V Gene Mutation
JNNP 61:204-205, Kimber,T.,et al, 1996
Cerebral Venous Thrombosis:Role of Activated Protein C Resistance and Factor V Gene Mutation
Stroke 27:1719-1720, Brey,R.L.&Coull,B.M., 1996