A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Congenital Cytomegalovirus Infection
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Mitochondrial Respiratory-Chain Diseases
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Retinocochleocerebral Vasculopathy
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Bilirubin Metabolism and Kernicterus
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Adult-Onset MELAS
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Adverse Outcomes of Bacterial meningitis in School-Age Survivors
Pediatrics 95:646-655, Grimwood,K.,et al, 1995
Progressive Hearing Loss in Infants with Asymptomatic Congenital Cytomegalovirus Infection
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Cockayne Syndrome: Review of 140 Cases
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Eight-Year Outcome in Infants with Birth Weight of 500 to 999 Grams
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Seizures and Other Neurologic Sequelae of Bacterial Meningitis in Children
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Delayed Complications of Cranial Irradiation
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Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
Neurol 74:e61-e63, Auvin,S., et al, 2010
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 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
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Small Infarctions of Cochlear, Retinal, and Encephalic Tissue in Young Women
Stroke 23:903-907, Schwitter,J.,et al, 1992
A Microangiopathic Syndrome of Encephalopathy, Hearing Loss & Retinal Arteriolar Occlusions
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Mitochondrial Myopathies
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