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Filter Applied: genetic neurologic disorders (Click to remove)

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

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

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013

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

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

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

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005

Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Cerebrovascular Complications of Fabry's Disease
Ann Neurol 40:8-17, Mitsias,P.&Levine,S.R., 1996

Familial Cerebral Cavernous Angiomas:Clinical and Radiologic Studies
Neurol 45:492-497, Kattapong,V.J.,et al, 1995

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

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

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
Lancet 2:603-604, Palsdottir,A.,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

Identical Twins with Hereditary Hemorrhagic Telangiectasia Concordant for Cerebrovascular Arteriovenous Malformations
Am J Med 81:931-934, Lesser,B.A.,et al, 1986

Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985

Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984

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

Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983

CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979

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

Familial Cavernous Angiomas
Arch Neurol 35:746-749, Bicknell,J.M.,et al, 1978

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

Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

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

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022

A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019

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

Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018

An Unusual Fundus Finding in a Teenage Girl
JAMA Neurol 75:1566-1567, Filho, F.M.R.,et al, 2018

Wilson Disease
NIDDK Oct2018, , 2018

Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017

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



Showing articles 0 to 50 of 244 Next >>