A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
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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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mitochondrial Disease and Stroke
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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
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
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Acute Leukoencephalopathies:Differential Diagnosis and Investigation
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Recurrent Strokes in a 34-Year-Old Man
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Multiple Mitochondrial DNA Deletions in Sporadic Inclusion Body Myositis:A Study of 56 Patients
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Atrophy of Bilateral Extraocular Muscles
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Ann Neurol 37:16-23, 31995., Johnston,W.,et al, 1995
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Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
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Inclusion Body Myositis and Myopathies
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Diffuse Leukodystrophy with a Large-Scale Mitochondrial DNA Deletion
Lancet 343:1397-1398, Nakai,A.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
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Ann Neurol 34:25-31, Koo,B.,et al, 1993
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Depletion of Muscle Mitochondrial DNA in AIDS Patients with Zidovudine-Induced Myopathy
Lancet 337:508-510, Arnaudo,E.,et al, 1991
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Ann Neurol 29:606-614, Mhiri,C.,et al, 1991
Mitochondrial Dysfunction in Multiple Symmetrical Lipomatosis
Ann Neurol 29:566-569, Berkovic,S.F.,et al, 1991
Adult Reye's Syndrome:A Review with New Evidence for a Generalized Defect in Intramitochondrial Enzyme Processing
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Mitochondrial Myopathies, Mechanisms Now Better Understood
BMJ 298:1127-1128, Schapira,A.H.V., 1989
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Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
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MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
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Mitochondrial Encephalomyopathy:Fluctuating Symptoms & CT
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