Results 31 to 40 of about 42,806 (266)

Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia

Cells, 2020
Mitochondrial dysfunction has been implicated as a central mechanism in the metabolic myopathy accompanying critical limb ischemia (CLI). However, whether mitochondrial dysfunction is directly related to lower extremity ischemia and the structural and ...
Thomas Groennebaek, Tine Borum Billeskov, Camilla Tvede Schytz, Nichlas Riise Jespersen, Hans Erik Bøtker, Rikke Kathrine Jentoft Olsen, Nikolaj Eldrup, Joachim Nielsen, Jean Farup, Frank Vincenzo de Paoli, Kristian Vissing   +10 more
doaj   +1 more source

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report

Journal of Medical Case Reports, 2019
Background Maternally inherited diabetes and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are examples of mitochondrial diseases that are relatively common in the adult population. Mitochondrial myopathy,
Mai Fukuda, Yoshiro Nagao
doaj   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers, CT Moraes, H Reichmann, Heinz Reichmann, I Nonaka, JA Morgan-Hughes, M. Naumann, P. Seibel, R. Gold, T. Klopstock, U. Walter, V Dubowitz   +11 more
core   +1 more source

Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer [PDF]

, 2006
Review of the articleMitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development.
Alam, Almeida-Santos, Anderson, Ankel-Simons, Barritt, Bavister, Blok, Boulet, Brenner, Brison, Brown, Brown, Campbell, Chang, Chen, Chen, Chinnery, Chung, Cibelli, Cohen, Cortesini, Cui, Cummins, Cummins, Dailey, Danan, Davis, De Block, Dean, Dumollard, Dunbar, D’Aurelio, E.C. Spikings, Eichenlaub-Ritter, Eisen, El Shourbagy, Falkenberg, Fisher, Fisher, Fulka, Gahan, Giles, Graziewicz, Gyllensten, Hammer, Han, Hance, Hanna, Hauswirth, He, Hecht, Hiendleder, Hiendleder, Hiendleder, Holden, Houghton, Humpherys, Inoue, Irwin, J. Alderson, J.C.St. John, Jansen, Kaneda, Keefe, Kenyon, King, Kirches, Klopstock, Koehler, Kondo, Kondo, Kong, Kong, Kraytsberg, Kvist, Laflamme, Larsson, Larsson, Larsson, Larsson, Leese, Lertrit, Lestienne, Levy, Lin, Liu, Liu, Liu, Lloyd, Ludwig, Luetjens, Machaty, Magnusson, Mancuso, Marchington, Margineantu, May-Panloup, McConnell, McCreath, McKenzie, McKenzie, McKenzie, Meirelles, Meirelles, Meirelles, Meusel, Michaels, Monnat, Moyes, Munne, Munsie, Nagao, Naini, Nakamura, Naviaux, Nishi, Nishigaki, Nishimura, Normile, Ojala, Ono, Palermo, Pfeiffer, Piko, Piko, Ponzetto, Poulton, Reynier, Reynier, Rideout, Rubart, Ruiz-Pesini, Sathananthan, Sathananthan, Sato, Satoh, Sazer, Scarpulla, Schon, Schwartz, Seifer, Sherratt, Shitara, Shoubridge, Siciliano, Smith, Sokolova, Spelbrink, Spiropoulos, St. John, St. John, St. John, St. John, St. John, St. John, St. John, St. John, Steinborn, Steinborn, Steuerwald, Stojanovski, Stojkovic, Sturmey, Sun, Sun, Suomalainen, Sutovsky, Sutovsky, Takeda, Takeda, Takeda, Takeuchi, Takeuchi, Taylor, Tessa, Thompson, Tiranti, Trounce, Trounson, Tsaousis, Vajta, Van Blerkom, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Wallace, Wernig, White, White, Wiesner, Wilding, Wilmut, Xu, Yakes, Yang, Yang, Zhang, Zhao, Zouros   +200 more
core   +2 more sources

Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review

Frontiers in Neurology, 2019
Isolated mitochondrial myopathy refers to the condition of mitochondrial disorders that primarily affect the skeletal muscle system. Here we report on a case of a patient who presented with acute respiratory failure as the initial and predominant ...
Xiaoli Pan, Lijun Wang, Lijun Wang, Guoqiang Fei, Jihong Dong, Chunjiu Zhong, Jiahong Lu, Lirong Jin   +7 more
doaj   +1 more source

Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]

, 2006
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe, Bauer, Matthis F., Chomyn, Anne, Duvezin-Caubet, Stéphane, Hansson, Anna, Hofmann, Sabine, Jagasia, Ravi, Larsson, Nils-Göran, Neupert, Walter, Reichert, Andrea S., Trifunovic, Aleksandra, Wagener, Johannes   +11 more
core   +2 more sources

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

Myopathy reversion in mice after restauration of mitochondrial complex I

EMBO Molecular Medicine, 2020
Myopathies are common manifestations of mitochondrial diseases. To investigate whether gene replacement can be used as an effective strategy to treat or cure mitochondrial myopathies, we have generated a complex I conditional knockout mouse model lacking
Claudia V Pereira, Susana Peralta, Tania Arguello, Sandra R Bacman, Francisca Diaz, Carlos T Moraes   +5 more
doaj   +1 more source