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Showing articles 0 to 36 of 36

Filter Applied: hearing loss (Click to remove)

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012

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

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

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

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

Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018

Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018

A Young Woman with Respiratory Failure, Hearing Loss, and Paraplegia
Neurol 88:e78-e84, Ntranos, A.,et al, 2017

Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012

Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010

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

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

Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005

Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998

Syndrome of Orthostatic Headaches and Diffuse Pachymeningeal Gadolinium Enhancement
Mayo Clin Proc 72:400-413, Mokri,B.,et al, 1997

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Epidemic Neuropathy in Cuba:A Plea to End the United States Economic Embargo on a Humanitarian Basis
Neurol 44:1784-1786, Roman,G.C., 1994

Intra-arterial Cisplatin-Associated Optic and Otic Toxicity
Arch Neurol 49:83-86, Maiese,K.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Vision and Hearing During Deferoxamine Therapy
J Pediatr 117:326-330, Cohen,A.,et al, 1990

A Simple Procedure for General Screening for Functional Disability in Elderly Patients
Ann Int Med 112:699-706, Lachs,M.S.,et al, 1990

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
Ann Neurol 12:395-398, Taylor,D.A.,et al, 1982

Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978

Infiltration of the Leptomeninges by Systemic Cancer:a Clinical & Pathologic Study
Arch Neurol 30:122, Olson,M.E.,et al, 1974

Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972

The Uveomeningoencephalitic Syndrome
Neurol 16, 6031966., Riehl,J.L.,et al, 1966



Showing articles 0 to 36 of 36