FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Adult-Onset MELAS Presenting as Herpes Encephalitis
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Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
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"Disappearing Infarct" Is Late-Onset MELAS
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Young Man with Progressive Vision and Hearing Loss
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Epilepsy in Adults with Mitochondrial Disease: A Cohort Study
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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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Heterogeneity of Coenzyme Q10 Deficiency
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MELAS
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
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Differential Diagnosis of Restricted Diffusion Confined to the Cerebral Cortex
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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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Clinicopath Conf., MELAS Syndrome
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Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Mitochondrial DNA and Disease
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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
Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
Muscle & Nerve 17:943-945994., Calabresi,P.,et al, 1994
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
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
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Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
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