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Showing articles 0 to 41 of 41

Filter Applied: sensorineural hearing loss (Click to remove)

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005

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

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

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

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

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024

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

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

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

MR Imaging in Sudden Sensorineural Hearing Loss Time to Talk
AJNR 38:1475-1479, Conte, G.,et al, 2017

A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016

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

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

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

Sudden Sensorineural Hearing Loss
The Lancet 375:1203-1211, Schreiber,B.E., et al, 2010

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009

Menieres Disease
Lancet 372:406-414, Saijadi, H. &Paparella,M.M., 2008

Idiopathic Sudden Sensorineural Hearing Loss
NEJM 359:833-840, Rauch,S.D., 2008

Superficial Siderosis
Arch Neurol 64:491-496, Kumar,J, 2007

Update on Susacs Syndrome
Curr Opin Neurol 18:311-314, Gross,M. &Eliashar,R., 2005

Susac Syndrome:Report of Four Cases and Review of the Literature
AJNR 25:382-388,351, Do,T.H.,et al, 2004

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

Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002

Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998

Tinnitus-Investigation and Management
BMJ 314:728-731, Vesterager,V., 1997

Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997

Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996

Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995

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

Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994

Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993

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

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

Status of Cochlear Implantation in Children
J Pediatr 118:1-7, Kveton,J.,et al, 1991

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

Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989

Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985

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

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



Showing articles 0 to 41 of 41