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Showing articles 0 to 36 of 36

Filter Applied: hearing loss (Click to remove)

Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022

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

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

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

Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,et al, 1994

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

Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992

Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992

Hearing Loss in Facioscapulohumeral Muscular Dystrophy
Neurol 41:1878-1881, Brouwer,O.F.,et al, 1991

Hearing Loss in Myotonic Dystrophy
Ann Neurol 23:202-203, Wright,R.B.,et al, 1988

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

A Woman with Progressive Painless Sequential Monocular Vision Loss
Neurol 101:e2197-e2201, Ditrapani,J.,et al, 2023

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

Pontine Tegmental Cap Dysplasia in a Neonate
Neuol 91:e2100-e2101, Bilgin, N.,et al, 2018

The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014

Profound Deafness in Childhood
NEJM 363:1438-1450, Kral,A.,et al, 2010

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

Neuroradiographic Findings in Newborn Period & Outcome in Children with Sympt Congen CMV Infection
Pediatrics 99:409-414, Boppana,S.B.,et al, 1997

TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993

Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992

Progressive Hearing Loss in Infants with Asymptomatic Congenital Cytomegalovirus Infection
Pediatrics 90:862-866, Williamson,W.D.,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

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

The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988

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

Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 1983

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

Heredopathia Atactica Polyneuritiformis
Arch Neurol 38:605-606, Refsum,S., 1981

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

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

School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
NEJM 295:468, Hanshaw,J.B.,et al, 1976

Chronic Progressive Panencephalitis due to Rubella Virus Simulating Subacute Sclerosing Panencephalitis
NEJM 292:994-998,1023, Weil, M.L.,et al, 1975

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



Showing articles 0 to 36 of 36