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Filter Applied: genetic neurologic disorders (Click to remove)

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

Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992

Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 1990

Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981

Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
Neurol 29:1402, Book,R.H.,et al, 1979

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

Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013

Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009

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

Cerebroretinal Vasculopathy Mimicking a Brain Tumor:A Case of a Rare Hereditary Syndrome
Neurol 53:629-631, Weil,S.,et al, 1999

Turcot's Syndrome:Evidence for Linkage to the Adenomatous Polyposis Coli (APC) Locus
neurol 44:1083-1086, Lasser,D.M.,et al, 1994

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992

Central Nervous System Involvement in Von Hippel-Lindau Disease
Neurol 41:41-46, Filling-Katz,M.R.,et al, 1991

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

Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991

Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
JNNP 53:644-648, Boughey,A.M.,et al, 1990

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

Occurrence of Both Neurofibromatosis 1 and 2 in the Same Individual with a Rapidly Progressive Course
Neurol 39:282-283, Sadeh,M.,et al, 1989

Neurofibromatosis and Other Disorders Among Children with CNS Tumors and Their Families
Neurol 39:487-492, Baptiste,M.,et al, 1989

Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
J Comput Assist Tomogr 13:743-755, Filling-Katz,M.R.,et al, 1989

Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988

Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
Wertelecki. W. , et al, NEJM 319:276-2838., , 1988

Inherited Multiple Meningiomas:A Clinical, Pathological & Cytogenetic Study of an Affected Family
JNNP 49:362-368, Battersby,R.D.E.,et al, 1986

Periodic Meningitis & Familial Mediterranean Fever
Arch Int Med 142:378-379, Vilaseca,J.,et al, 1982

Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982

Familial Association of Giant Cell Arteritis
Arch Int Med 141:115-117, Granato,J.E.,et al, 1981

A Family Affected with Intestinal Polyposis & Gliomas
Ann Neurol 10:390-392, Todd,D.W.,et al, 1981

Meningiomas in Five Members of a Family Over Two Generations, in One Member Simultaneously with Acoustic Neurinomas
Neurol 28:567, Delleman,J.W.,et al, 1978

Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978

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

Neuroectodermal Tumors in the Cerebellum in Two Sisters
JNNP 40:886, Thomas,M.,et al, 1977

Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973

Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024

Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

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

A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

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

Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014

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

MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 2008

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

Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007

Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995



Showing articles 0 to 50 of 312 Next >>