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Showing articles 0 to 43 of 43

Filter Applied: genetic neurologic disorders (Click to remove)

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

Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008

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

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

Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992

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

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

Clinical pathological conference
Von Hippel-Lindau disease, Case Record 1-1978, NEJM 298:95978., , 1978

Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977

Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023

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

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

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

A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020

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

A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016

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

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

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005

von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003

Clinical Significance of Fetal Choroid Plexus Cysts
Lancet 346:724-729, Gupta,J.K.,et al, 1995

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
AJR 160:601-603, Mehta,r.C.,et al, 1993

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

Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992

Clinicopath Conf
Pheochromocytoma of Adrenal Gland, Von Hippel-Lindau Disease, Case 16-1991, NEJM 324:1119-112791., , 1991

Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991

Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

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

Renal Cell Carcinoma in von Hippel-Lindau Syndrome
Am J Med 82:236-238, Malek,R.S.,et al, 1987

Von Hippel-Lindau Disease in an Adolescent
Pediatrics 79:632-637, Seitz,M.L.,et al, 1987

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985

The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984

Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983

Familial Porencephaly
Arch Neurol 40:567-569, Berg,R.A.,et al, 1983

Lipomembranous Polycystic Osteodysplasia with Progressive Dementia
J Comput Assist Tomogr 5:580-582, Laasonen,E.M.,et al, 1981

Supratentorial Leptomeningeal Hemangioblastoma
Neurol 28:727, Lee,K.R.,et al, 1978

Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978

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



Showing articles 0 to 43 of 43