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Items: 1 to 20 of 719

1.
A clinical approach to diagnosis and management of mitochondrial myopathies
Hui-Lin Chin, Poh San Lai, Stacey Kiat Hong Tay
Neurotherapeutics. 2024 Jan; 21(1): e00304. Published online 2023 Dec 19. doi: 10.1016/j.neurot.2023.11.001
PMCID:
PMC10903095
ArticlePDF–892K
2.
Characterization of Fatigue in Primary Mitochondrial Myopathies: Findings From a Qualitative Interview Study
Amel Karaa, Nathan Johnson, Ian Clarkson, Wendy Newman, Alejandro Dorenbaum, Bruce H. Cohen
Neurol Clin Pract. 2024 Feb; 14(1): e200229. Published online 2023 Dec 22. doi: 10.1212/CPJ.0000000000200229
PMCID:
PMC10790285
ArticlePDF–470K
3.
Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice
Margaret Moore, Philip Yeske, Sumit Parikh
J Prim Care Community Health. 2023 Jan-Dec; 14: 21501319231193875. Published online 2023 Aug 30. doi: 10.1177/21501319231193875
PMCID:
PMC10467167
ArticlePDF–2.4M
4.
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
Mariana I. Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel A. Martín, Cristina Domínguez-González
J Clin Med. 2023 May; 12(9): 3308. Published online 2023 May 6. doi: 10.3390/jcm12093308
PMCID:
PMC10179722
ArticlePDF–264K
5.
Remarks on Mitochondrial Myopathies
Patrizia Bottoni, Giulia Gionta, Roberto Scatena
Int J Mol Sci. 2023 Jan; 24(1): 124. Published online 2022 Dec 21. doi: 10.3390/ijms24010124
PMCID:
PMC9820309
ArticlePDF–272K
6.
Molecular Genetics Overview of Primary Mitochondrial Myopathies
Ignazio Giuseppe Arena, Alessia Pugliese, Sara Volta, Antonio Toscano, Olimpia Musumeci
J Clin Med. 2022 Feb; 11(3): 632. Published online 2022 Jan 26. doi: 10.3390/jcm11030632
PMCID:
PMC8836969
ArticlePDF–4.6M
7.
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies
Jacopo Gervasoni, Aniello Primiano, Federico Marini, Andrea Sabino, Alessandra Biancolillo, Riccardo Calvani, Anna Picca, Emanuele Marzetti, Silvia Persichilli, Andrea Urbani, Serenella Servidei, Guido Primiano
Genes (Basel) 2020 Dec; 11(12): 1522. Published online 2020 Dec 19. doi: 10.3390/genes11121522
PMCID:
PMC7766922
ArticlePDF–636K
8.
Advances in Primary Mitochondrial Myopathies (PMM)
Isabella Peixoto de Barcelos, Valentina Emmanuele, Michio Hirano
Curr Opin Neurol. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: Curr Opin Neurol. 2019 Oct; 32(5): 715–721. doi: 10.1097/WCO.0000000000000743
PMCID:
PMC6938233
ArticlePDF–72K
9.
Diagnosis and Treatment of Mitochondrial Myopathies
Syeda T. Ahmed, Lyndsey Craven, Oliver M. Russell, Doug M. Turnbull, Amy E. Vincent
Neurotherapeutics. 2018 Oct; 15(4): 943–953. Published online 2018 Nov 7. doi: 10.1007/s13311-018-00674-4
PMCID:
PMC6277287
ArticlePDF–2.8M
10.
Understanding mitochondrial myopathies: a review
Abhimanyu S. Ahuja
PeerJ. 2018; 6: e4790. Published online 2018 May 21. doi: 10.7717/peerj.4790
PMCID:
PMC5967365
ArticlePDF–174K
11.
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
Susana Graciela Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznaric, Mihael Rogac, Maja Jekovec-Vrhovsek, Monica Sciacco, Maurizio Moggio, Gigliola Fagiolari, Boel De Paepe, Linda De Meirleir, Isidre Ferrer, Manel Roig-Quilis, Francina Munell, Julio Montoya, Ester López-Gallardo, Eduardo Ruiz-Pesini, Rafael Artuch, Raquel Montero, Ferran Torner, Andres Nascimento, Carlos Ortez, Jaume Colomer, Cecilia Jimenez-Mallebrera
BMC Genomics. 2014; 15: 91. Published online 2014 Feb 1. doi: 10.1186/1471-2164-15-91
PMCID:
PMC3937154
ArticlePDF–1.6M
12.
Diagnosis and treatment of mitochondrial myopathies
Gerald Pfeffer, Patrick F. Chinnery
Ann Med. 2013 Feb; 45(1): 4–16. Published online 2011 Aug 25. doi: 10.3109/07853890.2011.605389
PMCID:
PMC3581062
ArticlePDF–959K
13.
Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies
Gabriele Siciliano, Costanza Simoncini, Annalisa Lo Gerfo, Daniele Orsucci, Giulia Ricci, Michelangelo Mancuso
Neuromuscul Disord. 2012 Dec 1; 22(3-3): S172–S177. doi: 10.1016/j.nmd.2012.10.005
PMCID:
PMC3526792
Article
14.
Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.
I J Holt, A E Harding, J A Morgan-Hughes
Nucleic Acids Res. 1989 Jun 26; 17(12): 4465–4469. doi: 10.1093/nar/17.12.4465
PMCID:
PMC318006
SummaryPage BrowsePDF–587K
15.
Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies.
A M Stadhouders, P H Jap, H P Winkler, H M Eppenberger, T Wallimann
Proc Natl Acad Sci U S A. 1994 May 24; 91(11): 5089–5093. doi: 10.1073/pnas.91.11.5089
PMCID:
PMC43937
SummaryPage BrowsePDF–2.1M
16.
A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia
LIU Haokun, GAO Ming, SUN Qiying, CHEN Si, LUO Yuebei, YANG Huan, LI Qiuxiang, LI Jing, YANG Guang
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Nov 28; 48(11): 1760–1768. doi: 10.11817/j.issn.1672-7347.2023.220605
PMCID:
PMC10929950
ArticlePDF–3.7M
17.
Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes
Grayson Beecher, Ralitza H Gavrilova, Jay Mandrekar, Elie Naddaf
Brain Commun. 2024; 6(2): fcae041. Published online 2024 Feb 14. doi: 10.1093/braincomms/fcae041
PMCID:
PMC10906953
ArticlePDF–1.4M
18.
Improvement of Intestinal Pseudo-Obstruction by Total Parenteral Nutrition in a Young Woman With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Case Report
Naoto Sakamoto, Shuhei Hamada, Hiroki Takahashi, Rumi Satou, Masatsune Suzuki, Tetsuhiro Maeno
Cureus. 2023 Dec; 15(12): e50075. Published online 2023 Dec 6. doi: 10.7759/cureus.50075
PMCID:
PMC10769865
ArticlePDF–825K
19.
Weaning difficulty after severe pneumonia in adult-onset mitochondrial myopathy with A3243G mutation in the mitochondrial tRNA gene: A case report
Xiong Peng, Li-xiu Ma, Ce Xiao, Zhi-zhe Zhang, Min Zhu, Dao-jun Hong, Yi-an Zhan
Heliyon. 2023 Dec; 9(12): e23300. Published online 2023 Dec 3. doi: 10.1016/j.heliyon.2023.e23300
PMCID:
PMC10750057
ArticlePDF–3.7M
20.
Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy
Valeria Di Leo, Tiago M. Bernardino Gomes, Amy E. Vincent
Biochem J. 2023 Nov 15; 480(21): 1767–1789. Published online 2023 Nov 15. doi: 10.1042/BCJ20220233
PMCID:
PMC10657187
ArticlePDF–1.3M

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