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

Year Number of Results
2008 1
2009 13
2010 20
2011 14
2012 26
2013 20
2014 16
2015 24
2016 32
2017 18
2018 19
2019 28
2020 17
2021 7
2022 3
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Search Results

220 results
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Page 1
Mitochondrial Diseases: Hope for the Future.
Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Russell OM, et al. Cell. 2020 Apr 2;181(1):168-188. doi: 10.1016/j.cell.2020.02.051. Epub 2020 Mar 26. Cell. 2020. PMID: 32220313 Free article. Review.
The genetics and pathology of mitochondrial disease.
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. Alston CL, et al. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. J Pathol. 2017. PMID: 27659608 Free PMC article. Review.
Recent Advances in Mitochondrial Disease.
Craven L, Alston CL, Taylor RW, Turnbull DM. Craven L, et al. Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Annu Rev Genomics Hum Genet. 2017. PMID: 28415858 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.
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. 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.
Mitochondrial Nanotunnels.
Vincent AE, Turnbull DM, Eisner V, Hajnóczky G, Picard M. Vincent AE, et al. Trends Cell Biol. 2017 Nov;27(11):787-799. doi: 10.1016/j.tcb.2017.08.009. Epub 2017 Sep 19. Trends Cell Biol. 2017. PMID: 28935166 Free PMC article. Review.
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T. Catarino CB, et al. J Neuroophthalmol. 2020 Dec;40(4):558-565. doi: 10.1097/WNO.0000000000001023. J Neuroophthalmol. 2020. PMID: 32991388 Free PMC article. Clinical Trial.
220 results