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myoclonic epilepsy with ragged red fibre相关文献:
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto YI, Nishino I, Yoshihashi H, Mizuguchi T, Matsumoto N, Egawa N, Kawata A, Isozaki E.
Intern Med. 2022 Feb 15;61(4):547-552. doi: 10.2169/internalmedicine.7767-21. Epub 2021 Aug 24.
PMID:34433719
Myoclonic epilepsy with ragged-red fibers: A case report.
Yu XF, Miao J, Li Y, Jiang XM, Ma YG, Meng HM.
Exp Ther Med. 2015 Feb;9(2):432-434. doi: 10.3892/etm.2014.2140. Epub 2014 Dec 16.
PMID:25574211
Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.
Carmona Alexandrino H, Ferreira MA, Ramalho D, Jesus NR, Oliveira MJ.
Cureus. 2023 Dec 26;15(12):e51114. doi: 10.7759/cureus.51114. eCollection 2023 Dec.
PMID:38274904
Mitochondrial biogenesis: pharmacological approaches.
Valero T.
Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118.
PMID:24606795
MERRF.
Velez-Bartolomei F, Lee C, Enns G.
2003 Jun 3 [updated 2021 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301693
Diagnosing Myoclonic Epilepsy With Ragged-Red Fibers Syndrome Requires Documentation of a Causative Mutation.
Finsterer J.
A A Pract. 2021 Sep 15;15(9):e01525. doi: 10.1213/XAA.0000000000001525.
PMID:34529593
Myoclonic epilepsy with ragged red fibers syndrome associated with mitochondrial 3302A>G mutation in the MT-TL1 gene: A case report.
Huang G, Wang Y, Yao D.
Exp Ther Med. 2023 Jan 4;25(2):87. doi: 10.3892/etm.2023.11786. eCollection 2023 Feb.
PMID:36684660
Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
Wu YT, Huang SC, Shiao YM, Syu WC, Wei YH, Hsu YC.
Hear Res. 2023 Oct;438:108876. doi: 10.1016/j.heares.2023.108876. Epub 2023 Aug 22.
PMID:37683310
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.
Zimmern V, Minassian B.
Genes (Basel). 2024 Jan 27;15(2):171. doi: 10.3390/genes15020171.
PMID:38397161
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis.
Carré F, Hervochon R, Foirest C, Tankéré F.
Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Apr;136(2):113-114. doi: 10.1016/j.anorl.2018.10.015. Epub 2018 Nov 5.
PMID:30409749
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