A Woman with Progressive Painless Sequential Monocular Vision Loss
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Bilateral Hearing Loss and Constricted Visual Fields
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Mitochondrial DNA and Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Cockayne Syndrome: Review of 140 Cases
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Phytanic Acid Storage Disease:Hearing Maintained After 15 Years of Dietary Treatment
Neurol 33:237-240, Djupesland,G.,et al, 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
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
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Cogan Syndrome
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Update on Susacs Syndrome
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Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
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Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
Stroke 22:933-937, Gordon,D.L.,et al, 1991
Vision and Hearing During Deferoxamine Therapy
J Pediatr 117:326-330, Cohen,A.,et al, 1990
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
Ann Neurol 12:395-398, Taylor,D.A.,et al, 1982
Neurologic Disturbances in Pagets Disease of Bone:Response to Calcitonin
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,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
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