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Showing articles 0 to 42 of 42

Filter Applied: genetic neurologic disorders (Click to remove)

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987

Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
Ann Neurol 4:130-144, Roman,G.,et al, 1978

Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
Arch Neurol 34:101, Adams,H.P.,et al, 1977

Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025

RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017

Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015

Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014

Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

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

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
Neurol 71:1035-1037, V�lker,W.,et al, 2008

Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007

Advances in the Genetics of Cerebrovascular Disease and Stroke
Neurol 56:997-1008, Hademenos,G.J.,et al, 2001

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,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

Familial Subarachnoid Hemorrhage:Distinctive Features and Patterns of Inheritance
Ann Neurol 38:929-934, Bromberg,J.E.C.,et al, 1995

Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994

Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
Stroke 25:889-903, Schievink,W.I.,et al, 1994

On the Inheritance of Intracranial Aneurysms
Stroke 25:2028-2037, Schievnink,W.I.,et al, 1994

Familial Intracranial Aneurysms, A Review
Stroke 23:1024-1030, terBerg,H.W.M.,et al, 1992

Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
JNNP 54:838-840, Shinton,R.,et al, 1991

Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
Stroke 21:291-294, Ryu,S.J., 1990

Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
Stroke 21:626-632, Schievink,W.I.,et al, 1990

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

Brain Abscess:Association with Pulmonary Arteriovenous Fistula and Hereditary Hemorrhagic Telangiectasia:3 Cases
Am J Med 85:718-720, Gelfand,M.S.,et al, 1988

Cerebral Amyloid Angiopathy, A Critical Review
Stroke 18:311-324, Vinters,H.V., 1987

Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
BMJ 290:350-352, Wintzen,A.R.,et al, 1985

Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984

Dominant Inheritance of Intracranial Berry Aneurysm
BMJ 283:824-825, Evans,T.W.,et al, 1981

Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
Ann Neurol 3:464, Waybright,E.A.,et al, 1978

Pseudoxanthoma Elasticum:A Review of Neurological Complications
Ann Neurol 4:18, Iqbal,A.,et al, 1978

Familial Incidence of Ruptured Intracranial Aneurysms
Arch Neurol 35:675-677, Acosta-Rua,G.J., 1978



Showing articles 0 to 42 of 42