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Year Number of Results
2017 2
2018 15
2019 21
2020 28
2021 20
2022 19
2023 13
2024 0

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103 results

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Page 1
Mitochondrial disease in adults: recent advances and future promise.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Ng YS, et al. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.
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.
Emerging roles of ATG7 in human health and disease.
Collier JJ, Suomi F, Oláhová M, McWilliams TG, Taylor RW. Collier JJ, et al. 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.
Diagnosis and Treatment of Mitochondrial Myopathies.
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Ahmed ST, et al. Neurotherapeutics. 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. Neurotherapeutics. 2018. PMID: 30406383 Free PMC article. Review.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Defining mitochondrial protein functions through deep multiomic profiling.
Rensvold JW, Shishkova E, Sverchkov Y, Miller IJ, Cetinkaya A, Pyle A, Manicki M, Brademan DR, Alanay Y, Raiman J, Jochem A, Hutchins PD, Peters SR, Linke V, Overmyer KA, Salome AZ, Hebert AS, Vincent CE, Kwiecien NW, Rush MJP, Westphall MS, Craven M, Akarsu NA, Taylor RW, Coon JJ, Pagliarini DJ. Rensvold JW, et al. Nature. 2022 Jun;606(7913):382-388. doi: 10.1038/s41586-022-04765-3. Epub 2022 May 25. Nature. 2022. PMID: 35614220 Free PMC article.
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.
Mitochondrial DNA mutations in ageing and cancer.
Smith ALM, Whitehall JC, Greaves LC. Smith ALM, et al. Mol Oncol. 2022 Sep;16(18):3276-3294. doi: 10.1002/1878-0261.13291. Epub 2022 Jul 28. Mol Oncol. 2022. PMID: 35842901 Free PMC article. Review.
Aberrant mitochondrial function in ageing and cancer.
Whitehall JC, Greaves LC. Whitehall JC, et al. Biogerontology. 2020 Aug;21(4):445-459. doi: 10.1007/s10522-019-09853-y. Epub 2019 Dec 4. Biogerontology. 2020. PMID: 31802313 Free PMC article. Review.
103 results