Results 191 to 200 of about 42,806 (266)

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with high-frequency oscillations on scalp EEG: A case report. [PDF]

Epilepsy Behav Rep
Maeda K, Tsuboi H, Hosoda N, Fukumoto J, Fujita S, Ichino N, Osakabe K, Sugimoto K, Furukawa G, Ishihara N.   +9 more
europepmc   +1 more source

Mitochondrial Myopathy [PDF]

, 2020
openaire   +1 more source

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, Volume 59, Issue 4, April 2026.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. [PDF]

Orphanet J Rare Dis
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M, MMPOWER-3 Trial Investigators .   +34 more
europepmc   +1 more source

Diagnostic Criteria and Management of MELAS and Stroke‐Like Episodes: Consensus‐Based Statements

European Journal of Neurology, Volume 33, Issue 4, April 2026.
International Delphi‐based consensus defining MELAS as a clinical syndrome characterized by one or more stroke‐like episodes in the presence of a pathogenic mitochondrial DNA variant, most commonly m.3243A>G. The panel provides practical recommendations for acute and chronic management of stroke‐like episodes and highlights the absence of proven ...
Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, Irenaeus de Coo, Daria Diodato, Felix Distelmaier, Omar Hikmat, Michio Hirano, Rita Horvath, Amel Karaa, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Chiara La Morgia, Piervito Lopriore, Mika Henrik Martikainen, Robert McFarland, Olimpia Musumeci, Robert D. S. Pitceathly, Guido Primiano, Shamima Rahman, Fernando Scaglia, Andrew Schaefer, Manuel Schiff, Luisa Semmler, Costanza Lamperti, Serenella Servidei   +26 more
wiley   +1 more source

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant. [PDF]

Brain Pathol, 2022
Roos S, Hedberg-Oldfors C, Visuttijai K, Stein M, Kollberg G, Elíasdóttir Ó, Lindberg C, Darin N, Oldfors A.   +8 more
europepmc   +1 more source

Dysregulated Sheddase Signalling as a Molecular Driver of Plaque Instability Revealed by Integrative Transcriptomics

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT Atherosclerosis is a major cause of mortality due to chronic and progressive low‐grade inflammation and fibroproliferative remodelling of the intima of arteries. Comprehensive understanding of the interplay between plaque biology and the mechanisms underlying plaque vulnerability and rupture is essential.
Alaa G. Alahmadi, Hind A. Alkhatabi, Reem M. Alotibi, Wedad M. Albeshri, Mohammed El‐Mezgueldi, Ammar AL‐Farga, Peter Natesan Pushparaj   +6 more
wiley   +1 more source

A century of vitamin E research: The innovative journey from basic biology to synthetic bio‐manufacturing

Journal of Integrative Plant Biology, Volume 68, Issue 4, Page 985-1012, April 2026.
For a century, Vitamin E has been studied for its health benefits. This review traces its journey from basic biological discovery, and the recent identification of its link to chlorophyll degradation, to the modern era of sustainable microbial manufacturing, highlighting the innovative technologies that define its future production.
Ruiqi Zhang, Yuqing Ren, Yuehe Zhao, Hongyan Zheng, Yanzhong Luo, Yuan Liu, Lei Wang, Lan Zhang   +7 more
wiley   +1 more source

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants. [PDF]

Am J Med Genet A, 2022
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM.   +7 more
europepmc   +1 more source

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

Neurogastroenterology &Motility, Volume 38, Issue 4, April 2026.
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
Pascal De Santa Barbara, Isabella Ceccherini, Robert O. Heuckeroth, Carlo Di Lorenzo, Maria M. Alves, Arthur Beyder, Osvaldo Borrelli, Ludovica Cacopardo, Rachel Ceron, Jihong Chen, Federica Chiappori, Antonio Contessa, Roberto De Giorgio, Antonella Diamanti, Maria Grazia Faticato, Sandrine Faure, Sohaib K. Hashmi, Jan D. Huizinga, Raj P. Kapur, Cecile Lambe, Laurence Lancon, Ryan McManigal, Hayat Mousa, Alessandro Palmitelli, Victor Perreaux, Alessio Pini Prato, Michela Pitto, Elisa Proietti, John Rendu, Anna Rybak, Kenton M. Sanders, Sabah Sardar, Vincenzo Stanghellini, Renato Tambucci, Nikhil Thapar, Pieter Vanden Berghe, Massimo Vassalli, Qianqian Wang, Michael Wangler, Sharon Wolfson, Almira Zada, Jiliang Zhou, Federica Viti   +42 more
wiley   +1 more source