Heterogeneity of Coenzyme Q10 Deficiency
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Mitochondrial DNA Polymerase-y and Human Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
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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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Rapidly Progressive Leukoencephalopathy in Mitochondrial Complex I Deficiency
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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MELAS
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A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
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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
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Cerebral MR Imaging in Uninfected Children Born to HIV-Seropositive Mothers and Perinatally Exposed to Zidovudine
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Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease
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A Forearm Exercise Screening Test for Mitochondrial Myopathy
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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
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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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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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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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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MELAS Syndrome Involving a Mother & Two Children
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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