Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders, Meningioma
Adams & Victors Principles of Neurology, Chp 31, pg 656, Ropper, A.H.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
J Stroke Cerebrovasc Dis 23:441-443, Kuroki, T.,et al, 2014
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Optimal Screening Strategy for Familial Intracranial Aneurysms: A Cost-Effectiveness Analysis
Neurol 74:1671-1679, Bor,A.S.E., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008
Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
Stroke 37:2924-2929, Martin,J.J.,et al, 2006
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
Stroke 31:2742-2750, Bederson,J.B.,et al, 2000
Familial Occipital Calcifications, hemorrhagic Strokes, Leukoencephalopathy, Dementia, and External Carotid Dysplasia
Neurol 55:1661-1667, Iglesias,S.,et al, 2000
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Should We Screen for Familial Intracranial Aneurysm?
Stroke 30:312-316, Crawley,F.,et al, 1999
Aneurysms in Relatives of Patients with Subarachnoid Hemorrhage,Frequency and Risk Factors
Neurol 53:982-988, Raaymakers,T.W.M.&the MARS Study Group, 1999
Risks and Benefits of Screening for Intracranial Aneurysms in First-Degree Relatives of Patients with Sporadic Subarachnoid Hemorrhage
NEJM 341:1344-1350, The Magnetic Resonance Angiography in Relatives of, 1999
MR Angiography as a Screening Tool for Intracranial Aneurysms:Feasibility, Test Characteristics, and Interobserver Agreement
AJR 173:1469-1475, Raaymakers,T.W.M.,et al, 1999
Middle Cerebral Artery Main Stem Thrombosis in Two Siblings with Familial Thrombotic Thrombocytopenic Purpura
Neurol 50:1157-1160, Kelly,P.J.,et al, 1998
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998
Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998
Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
Neurol 51:1185-1187, Rehany,U.,et al, 1998
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998
Familial Intracranial Aneurysms
Lancet 349:380-384, Ronkainen,A.,et al, 1997
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
Recurrent Spontaneous Arterial Dissections-Risk in Familial Vs Nonfamilial Disease
Stroke 27:662-624, Schievink,W.,et al, 1996
Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
Ann Neurol 40:767-775, Golbe,L.I.,et al, 1996
Intracranial Aneurysms:MR Angiographic Screening in 400 Asymptomatic Individuals with Increased Familial Risk
Radiology 195:35-40, Ronkainen,A.,et al, 1995
Outcome in Familial Subarachnoid Hemorrhage
Stroke 26:961-963, Bromberg,J.E.C.,et al, 1995
Familial Aorto-Cervicocephalic Arterial Dissections and Congenitally Bicuspid Aortic Valve
Stroke 26:1935-1940, Schievink,W.I.&Mokri,B., 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
Ann Neurol 38:960-964, North,K.N.,et al, 1995