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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 4
2000 2
2001 1
2003 4
2004 6
2005 7
2006 3
2007 9
2008 8
2009 5
2010 9
2011 8
2012 14
2013 9
2014 10
2015 12
2016 15
2017 18
2018 11
2019 21
2020 13
2021 16
2022 21
2023 23
2024 11

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212 results

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Page 1
Primary Mitochondrial Disorders Overview.
Chinnery PF. Chinnery PF. 2000 Jun 8 [updated 2021 Jul 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jun 8 [updated 2021 Jul 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301403 Free Books & Documents. Review.
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF. Yu-Wai-Man P, et al. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301353 Free Books & Documents. Review.
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C. Bakis H, et al. Clin Genet. 2020 Apr;97(4):628-633. doi: 10.1111/cge.13670. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31713837
Clinical and genetic variability are the hallmarks of mitochondrial disorders. We report here the involvement of two MT-ND5 pathogenic variants encoding for ND5 subunit of respiratory chain complex I, the m.13513G>A and the m.13514A>G, in adult-onset kidney di …
Clinical and genetic variability are the hallmarks of mitochondrial disorders. We report here the involvement of two MT-ND5 pa …
MELAS.
El-Hattab AW, Almannai M, Scaglia F. El-Hattab AW, et al. 2001 Feb 27 [updated 2018 Nov 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Feb 27 [updated 2018 Nov 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301411 Free Books & Documents. Review.
Pathogenic variants in MT-TL1 or other mtDNA genes, particularly MT-ND5, can also cause this disorder. MANAGEMENT: Treatment of manifestations: Treatment for MELAS is generally supportive. ...
Pathogenic variants in MT-TL1 or other mtDNA genes, particularly MT-ND5, can also cause this disorder. MANAGEMENT: Treatment o …
Mitochondrial DNA-Associated Leigh Syndrome Spectrum.
Ball M, Thorburn DR, Rahman S. Ball M, et al. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301352 Free Books & Documents. Review.
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.9176T>C), MT-ND5, PDHA1, SUCLG1, and SURF1. Poorest survival was associated with MT-ND5, MT-ATP6 (m.8993T>C and m.9176T>C), SURF1, and ALDH5A1 (50% 3 year's su …
Discriminating neuroimaging and/or clinical features were identified for MT-ATP6 (m.9176T>C), MT-ND5, PDHA1, SUCLG1, and SU …
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. Ng YS, et al. EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24. EBioMedicine. 2018. PMID: 29506874 Free PMC article.
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). ...
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). ...
Mitochondrial dysfunction and endoplasmic reticulum stress involved in oocyte aging: an analysis using single-cell RNA-sequencing of mouse oocytes.
Zhang T, Xi Q, Wang D, Li J, Wang M, Li D, Zhu L, Jin L. Zhang T, et al. J Ovarian Res. 2019 Jun 8;12(1):53. doi: 10.1186/s13048-019-0529-x. J Ovarian Res. 2019. PMID: 31176373 Free PMC article.
KEGG pathway analysis revealed that the genes involved in mitochondrial function including oxidative phosphorylation and ATP production pathway were significantly down-regulated in GV oocytes of 32-week-old mice, especially the mitochondrial encoded NADH dehydrogenase (mt-Nd), in …
KEGG pathway analysis revealed that the genes involved in mitochondrial function including oxidative phosphorylation and ATP production path …
212 results