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

Year Number of Results
1974 1
1976 3
1980 1
1982 1
2008 1
2011 1
2014 2
2015 4
2016 3
2017 3
2018 5
2019 4
2020 4
2021 5
2022 2
2023 2
2024 0

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39 results

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Page 1
Emerging roles of ATG7 in human health and disease.
Collier JJ, Suomi F, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. Among authors: olahova m. EMBO Mol Med. 2021 Dec 7;13(12):e14824. doi: 10.15252/emmm.202114824. Epub 2021 Nov 2. EMBO Mol Med. 2021. PMID: 34725936 Free PMC article. Review.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
ATG7 safeguards human neural integrity.
Collier JJ, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. Among authors: olahova m. Autophagy. 2021 Sep;17(9):2651-2653. doi: 10.1080/15548627.2021.1953267. Epub 2021 Jul 27. Autophagy. 2021. PMID: 34313536 Free PMC article.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. Smith TB, et al. Among authors: olahova m. Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. Eur J Hum Genet. 2023. PMID: 37558808 Free PMC article.
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Thompson K, et al. Among authors: olahova m. J Inherit Metab Dis. 2020 Jan;43(1):36-50. doi: 10.1002/jimd.12104. Epub 2019 May 10. J Inherit Metab Dis. 2020. PMID: 31021000 Free PMC article. Review.
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. Nolden KA, et al. Among authors: olahova m. Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. Life Sci Alliance. 2022. PMID: 35914810 Free PMC article.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: olahova m. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
39 results