Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
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
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
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
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
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
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005