Results 41 to 50 of about 615,554 (304)

Frequency of Childhood Mitochondrial Myopathies

Pediatric Neurology Briefs, 2000
The frequency of mitochondrial diseases among patients with childhood encephalopathies and myopathies in a defined population of Northern Finland was investigated at the University of Oulu, Finland.
J Gordon Millichap
doaj   +1 more source

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency. [PDF]

, 2014
Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant.
Scheffler, Immo E
core   +1 more source

Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy [PDF]

, 2019
The mosaic distribution of cytochrome c oxidase(+) (COX+) and COX - muscle fibers in mitochondrial disorders allows the sampling of fibers with compensated and decompensated mitochondrial function from the same individual.
Doll, S., Geyer, P., Klopstock, T., Mann, M., Murgia, M., Tan, J.   +5 more
core   +3 more sources

Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohort.

Neuromuscular Disorders, 2019
Anti-mitochondrial antibodies, the hallmark of primary biliary cirrhosis, have been detected in many patients with idiopathic inflammatory myopathies and these anti-mitochondrial-antibody-associated idiopathic inflammatory myopathies frequently show ...
Ying Hou, Meirong Liu, Yue-Bei Luo, Yuan Sun, K. Shao, T. Dai, Wei Li, Yuying Zhao, C. Yan   +8 more
semanticscholar   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
core   +3 more sources

Recent Trends in Metabolomics by NMR Spectroscopy

Angewandte Chemie, EarlyView.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco, Gaia Meoni, Veronica Ghini, Alessia Vignoli, Leonardo Tenori, Paola Turano, Claudio Luchinat   +6 more
wiley   +2 more sources

Aerobic Exercise Training in Patients With mtDNA-Related Mitochondrial Myopathy

Frontiers in Physiology, 2020
In patients with mitochondrial DNA (mtDNA) mutation, a pathogenic mtDNA mutation is heteroplasmically distributed among tissues. The ratio between wild-type and mutated mtDNA copies determines the mtDNA mutation load of the tissue, which correlates ...
Tina Dysgaard Jeppesen
doaj   +1 more source

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Human Molecular Genetics, 2018
Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here, we describe a 15-year-old boy with a novel disease caused by altered mitochondrial dynamics.
M. Bartsakoulia, A. Pyle, Diego Troncoso-Chandía, Josefa Vial-Brizzi, Marysol V. Paz-Fiblas, J. Duff, H. Griffin, V. Boczonadi, Hanns Lochmüller, S. Kleinle, P. Chinnery, S. Grünert, J. Kirschner, V. Eisner, R. Horvath   +14 more
semanticscholar   +1 more source

Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report [PDF]

Korean Journal of Anesthesiology, 2014
Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy, and cardiac ...
Ali S Faris, Qutaiba A Tawfic, Leo Jeyaraj   +2 more
doaj   +1 more source