Results 211 to 220 of about 44,988 (276)

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 DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy

, 2018
Doris G. Leung, Julie S. Cohen, E. Harlan Michelle, Renkui Bai, Andrew L. Mammen, Lisa Christopher‐Stine   +5 more
openalex   +2 more sources

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

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

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

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies [PDF]

, 2014
Susana G. Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznarič, Mihael Rogač, Maja Jekovec‐Vrhovsěk, Monica Sciacco, Maurizio Moggio, Gigliola Fagiolari, Boél De Paepe, Linda De Meırleır, Isidró Ferrer, Manel Roig-Quilis, Francina Munell, Julio Montoya, Ester López‐Gallardo, Eduardo Ruiz‐Pesini, Rafael Artuch, Raquel Montero, Ferrán Torner, A. Nascimento, C. Ortez, J. Colomer, C. Jimenez‐Mallebrera   +24 more
openalex   +1 more source

A Follow-up Study in a Taiwanese Family with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes Syndrome

, 2007
Jie-Yuan Li, Rong‐Hong Hsieh, Nan-Jing Peng, Ping-Hong Lai, Cheng-Feng Lee, Yuk-Keung Lo, Yau‐Huei Wei   +6 more
openalex   +2 more sources

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy [PDF]

, 2012
Helen Tuppen, K Naess, Nancy G. Kennaway, Mazhor Aldosary, Nicole Lesko, John W. Yarham, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Richard G. Weleber, Emma L. Blakely, Robert W. Taylor, Robert McFarland   +12 more
openalex   +1 more source

Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A

, 2017
Josef Finsterer, Sinda Zarrouk‐Mahjoub
openalex   +1 more source

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. [PDF]

Neurology, 2020
Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku CC, Meyer C, O'Grady M, Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J.   +16 more
europepmc   +1 more source