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2. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Ruiter EM; Siers MH; van den Elzen C; van Engelen BG; Smeitink JA; Rodenburg RJ; Hol FA Eur J Hum Genet; 2007 Feb; 15(2):155-61. PubMed ID: 17106447 [TBL] [Abstract][Full Text] [Related]
3. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. Blok MJ; Spruijt L; de Coo IF; Schoonderwoerd K; Hendrickx A; Smeets HJ J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793 [TBL] [Abstract][Full Text] [Related]
9. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310 [TBL] [Abstract][Full Text] [Related]
10. Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy. Zhang J; Ji Y; Lu Y; Fu R; Xu M; Liu X; Guan MX Hum Mol Genet; 2018 Jun; 27(11):1999-2011. PubMed ID: 29579248 [TBL] [Abstract][Full Text] [Related]
11. Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing. Vázquez-Justes D; Carreño-Gago L; García-Arumi E; Traveset A; Montoya J; Ruiz-Pesini E; López R; Brieva L J Pediatr Genet; 2019 Dec; 8(4):231-234. PubMed ID: 31687263 [TBL] [Abstract][Full Text] [Related]
12. [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families]. Ji YC; Liu XL; Zhao FX; Zhang JJ; Zhang Y; Zhou XT; Qu J; Guan MX Yi Chuan; 2011 Apr; 33(4):322-8. PubMed ID: 21482521 [TBL] [Abstract][Full Text] [Related]
14. Case Report: A Novel Mutation in the Mitochondrial Engvall M; Kawasaki A; Carelli V; Wibom R; Bruhn H; Lesko N; Schober FA; Wredenberg A; Wedell A; Träisk F Front Neurol; 2021; 12():652590. PubMed ID: 33841319 [TBL] [Abstract][Full Text] [Related]
15. Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy. Wang SB; Weng WC; Lee NC; Hwu WL; Fan PC; Lee WT Pediatr Neonatol; 2008 Aug; 49(4):145-9. PubMed ID: 19054921 [TBL] [Abstract][Full Text] [Related]
16. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Mayorov V; Biousse V; Newman NJ; Brown MD Ann Neurol; 2005 Nov; 58(5):807-11. PubMed ID: 16240359 [TBL] [Abstract][Full Text] [Related]
17. Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing. Seong MW; Choi J; Park SS; Kim JY; Hwang JM J Neurol Sci; 2017 Apr; 375():301-303. PubMed ID: 28320155 [No Abstract] [Full Text] [Related]
18. Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy. Ayalon N; Flore LA; Christensen TG; Sam F Int J Cardiol; 2013 Sep; 167(5):e143-5. PubMed ID: 23628297 [No Abstract] [Full Text] [Related]
19. Mitochondrial DNA profiling via genomic analysis in mesial temporal lobe epilepsy patients with hippocampal sclerosis. Gurses C; Azakli H; Alptekin A; Cakiris A; Abaci N; Arikan M; Kursun O; Gokyigit A; Ustek D Gene; 2014 Apr; 538(2):323-7. PubMed ID: 24440288 [TBL] [Abstract][Full Text] [Related]
20. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Panadés-de Oliveira L; Montoya J; Emperador S; Ruiz-Pesini E; Jericó I; Arenas J; Hernández-Lain A; Blázquez A; Martín MÁ; Domínguez-González C Mitochondrion; 2020 Jan; 50():14-18. PubMed ID: 31639449 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]