Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994
Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
Stroke 21:626-632, Schievink,W.I.,et al, 1990
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996
Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
Lancet 1:1263-1265, Burton,J.L., 1988
Identical Twins with Hereditary Hemorrhagic Telangiectasia Concordant for Cerebrovascular Arteriovenous Malformations
Am J Med 81:931-934, Lesser,B.A.,et al, 1986
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978
Familial Cavernous Angiomas
Arch Neurol 35:746-749, Bicknell,J.M.,et al, 1978
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
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
Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 2006
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,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
Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
Ann Neurol 40:767-775, Golbe,L.I.,et al, 1996
Clinical Significance of Fetal Choroid Plexus Cysts
Lancet 346:724-729, Gupta,J.K.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Familial Autoimmune Myasthenia Gravis
Neurol 44:551-554, Bergoffen,J.,et al, 1994
Preclinical Detection of Parkinson's Disease
Neurology Suppl 2, 41:5-921991., Koller,W.C.&Langston,J.W., 1991
A Large Kindred with Autosomal Dominant Parkinson's Disease
Ann Neurol 27:276-282, Golbe,L.I.,et al, 1990
Epilepsy Octet, Epidemiology, Classification, Natural History, and Genetics of Epilepsy
Lancet 336:93-96, Shorvon,S.D., 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
Genetic Factors in Myasthenia Gravis:A Family Study
Neurol 38:38-42, Kerzin-Storrar,L.,et al, 1988
Leigh Disease (Subacute Necrotizing Encephalomyelopathy) :CT & MR in Five Cases
J Comput Assist Tomogr 12:40-44, Geyer,C.A.,et al, 1988
Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988
Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
J Pediatr 111:372-376, Regev,R.,et al, 1987
Myasthenia Gravis in Identical Twins
Neurol 36:78-80, Murphy,J.&Murphy,S.F., 1986
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977