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Showing articles 0 to 43 of 43

Filter Applied: genetic neurologic disorders (Click to remove)

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

Teratogenic Effect of Anticonvulsnats
Lancet 198, 1973 Jan., , 1973

Maternal Epilepsy & Abnormalities of the Fetus & Newborn
Lancet 839, Oct1972., Speidel,B.,et al, 1972

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

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

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

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

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

A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017

Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016

A Case of Refractory Nocturnal Seizures
Neurol 84:e134-e136, Pavlakis, P.P. & Douglass, L.M., 2015

Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014

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

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

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

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

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

Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002

Treatment of Attention-Deficit-Hyperactivity Disorder
NEJM 340:780-788, Elia,J.,et al, 1999

Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

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

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992

Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991

Genetic Predisposition to Iatrogenic Creutzfeldt-Jakob Disease
Lancet 337:1441-1442, Collinge,J.,et al, 1991

The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Homing in on Wilson's Disease
Editorial, Lancet 1:822-8231989., , 1989

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987

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

Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983

Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
Neurol 33:1479-1483, Royden,H.,et al, 1983

Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978

Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977

Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973



Showing articles 0 to 43 of 43