Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Vertebral Artery Dissection in Patients with Autosomal Dominant Polycystic Kidney Disease
J Stroke Cerebrovasc Dis 23:441-443, Kuroki, T.,et al, 2014
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
Stroke 37:2924-2929, Martin,J.J.,et al, 2006
Familial Intracranial Aneurysms
Lancet 349:380-384, Ronkainen,A.,et al, 1997
Recurrent Spontaneous Arterial Dissections-Risk in Familial Vs Nonfamilial Disease
Stroke 27:662-624, Schievink,W.,et al, 1996
Familial Aorto-Cervicocephalic Arterial Dissections and Congenitally Bicuspid Aortic Valve
Stroke 26:1935-1940, Schievink,W.I.&Mokri,B., 1995
Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
Ann Neurol 38:960-964, North,K.N.,et al, 1995
Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Intracranial Aneurysms in Autosom Dominant Polycystic Kidney Disease
NEJM 327:916-920, 9531992., Chapman,A.B.,et al, 1992
Familial Association of Intracranial Aneurysms and Cervical Artery Dissections
Stroke 22:1426-1430, Schievink,W.I.,et al, 1991
Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
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
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 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
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
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 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
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
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
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,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