about
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseMitochondrial disease in childhood: nuclear encodedMetabolic disturbances in diseases with neurological involvementOxidative stress is not a major contributor to somatic mitochondrial DNA mutationsThe role of mitochondrial DNA mutations in mammalian agingFatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.The in-depth evaluation of suspected mitochondrial diseaseA novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).Mitochondrial disorders of the nuclear genomeA functionally dominant mitochondrial DNA mutation.Mitochondrial DNA mutations and male infertility.Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).High-efficiency biolistic transformation of Chlamydomonas mitochondria can be used to insert mutations in complex I genesMitochondrial genome analysis of primary open angle glaucoma patientsDifferential programming of p53-deficient embryonic cells during rotenone block.Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in DrosophilaExtraocular mitochondrial myopathies and their differential diagnoses.The role of mitochondria in inherited neurodegenerative diseases.Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesisOcular myositis: diagnostic assessment, differential diagnoses, and therapy of a rare muscle disease - five new cases and reviewBiochemical and genetic analysis of Leigh syndrome patients in Korea.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.Mitochondrial DNA mutations and cognition: a case-series report.Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.Myopathology of Adult and Paediatric Mitochondrial Diseases.Differential effects of mitochondrial Complex I inhibitors on production of reactive oxygen species.Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients.Analysis of reactive oxygen species and antioxidant defenses in complex I deficient patients revealed a specific increase in superoxide dismutase activity.Liver pathology in infantile mitochondrial DNA depletion syndrome.Mitochondrial Disease in Children: The Nephrologist's Perspective.Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder.Effects of acute administration of mazindol on brain energy metabolism in adult mice.Side alternating vibration training in patients with mitochondrial disease: a pilot study.Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyMutually exclusive binding of PP1 and RNA to AKAP149 affects the mitochondrial network
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Mitochondrial encephalomyopathies: an update.
@ast
Mitochondrial encephalomyopathies: an update.
@en
type
label
Mitochondrial encephalomyopathies: an update.
@ast
Mitochondrial encephalomyopathies: an update.
@en
prefLabel
Mitochondrial encephalomyopathies: an update.
@ast
Mitochondrial encephalomyopathies: an update.
@en
P1476
Mitochondrial encephalomyopathies: an update.
@en
P2093
Michio Hirano
P304
P356
10.1016/J.NMD.2004.12.008
P577
2005-04-01T00:00:00Z