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Filter Applied: genetic neurologic disorders (Click to remove)

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

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

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

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

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

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

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

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

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

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

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

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

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

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014

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

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

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

Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006

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

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004

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

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996

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

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995

Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992

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

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

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

Adrenomyeloneuropathy Presenting as Addison's Disease in Childhood
NEJM 322:13-16, 54-551990., Sadeghi-Nejad,A.&Senior,B., 1990

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

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

Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990

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

Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989

Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989

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

Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988

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



Showing articles 0 to 50 of 71 Next >>