Pyruvate Dehydrogenase Deficiency (PDCD)
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Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
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
Recommendations for the Management of Strokelike Episodes in Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
JAMA 73:591-594, Koenig, M.K.,et al, 2016
Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
Ann Neurol 78:949-957, Whittaker, R.G.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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MELAS
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Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
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Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
Clin Radiol 63:1245-1253, Sheerin,F.,et al, 2008
Metabolic Disease and Stroke: MELAS
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
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Clinicopath Conf., MELAS Syndrome
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Mitochondrial Optic Neuropathies
JNNP 72:423-425, Sadun,A.A., 2002
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Parkinson's Disease
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Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Inclusion Body Myositis and Myopathies
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Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
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Mitochondrial DNA mutations in an Outbreak of Optic Neuropathy in Cuba
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
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Zidovudine Myopathy:A Distinctive Disorder Associated with Mitochondrial Dysfunction
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Adult Reye's Syndrome:A Review with New Evidence for a Generalized Defect in Intramitochondrial Enzyme Processing
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Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
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Mitochondrial DNA and Genetic Disease
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Mitochondrial Encephalomyopathy with Associated Aminoacidopathy in a Male Sibship
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
NEJM 320:1300-1305, Singh,G.,et al, 1989
MELAS Syndrome:Characteristic Migrainous & Epileptic Features and Maternal Transmission
Neurol 38:751-754, Montagne,P.,et al, 1988
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
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