Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Pediatric Leigh Syndrome
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
JAMA Neurol 73:668-674, Martikainen, M.H.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010
Neuroradiological Features of Six Kindreds with MELAS tRNA(Leu) A3243G Point Mutation: Implications for Pathogenesis
JNNP 65:233-240, Sue,C.M.,et al, 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Diagnosis & Follow-up of Mitochondrial Encephalomyopathy:CT and MR Studies
J Comput Assist Tomogr 12:696-697, Taverni,N.,et al, 1988
Progressive Dystonia with Bilateral Putaminal Hypodensities
Arch Neurol 44:1184-1187, Berkovic,S.F.,et al, 1987
MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Metabolic Disease and Stroke: MELAS
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Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340995., Forestier,N.L.,et al, 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993