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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
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
Mitochondrial biogenesis: pharmacological approaches.
Valero T.
Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118.
PMID:24606795
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
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
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
The syndrome of myoclonic epilepsy with ragged-red fibers. Report of a case and review of the literature.
Garcia Silva MT, Aicardi J, Goutières F, Chevrie JJ.
Neuropediatrics. 1987 Nov;18(4):200-4. doi: 10.1055/s-2008-1052480.
PMID:3122068
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P.
Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23.
PMID:31476531
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
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; 1993–2024.
PMID:20301693
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