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Year Number of Results
2019 8
2020 9
2021 11
2022 12
2023 5
2024 0

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41 results

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Page 1
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. medRxiv [Preprint]. 2023 Jan 19:2023.01.19.23284696. doi: 10.1101/2023.01.19.23284696. medRxiv. 2023. PMID: 36711677 Free PMC article. Updated. Preprint.
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.
Kremer LS, Bozhilova LV, Rubalcava-Gracia D, Filograna R, Upadhyay M, Koolmeister C, Chinnery PF, Larsson NG. Kremer LS, et al. PLoS Genet. 2023 Jan 6;19(1):e1010573. doi: 10.1371/journal.pgen.1010573. eCollection 2023 Jan. PLoS Genet. 2023. PMID: 36608143 Free PMC article.
Cell-Free Mitochondrial DNA in Acute Brain Injury.
Kayhanian S, Glynos A, Mair R, Lakatos A, Hutchinson PJA, Helmy AE, Chinnery PF. Kayhanian S, et al. Neurotrauma Rep. 2022 Sep 28;3(1):415-420. doi: 10.1089/neur.2022.0032. eCollection 2022. Neurotrauma Rep. 2022. PMID: 36204389 Free PMC article.
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.
Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield MJ, Chinnery PF. Wei W, et al. Nature. 2022 Nov;611(7934):105-114. doi: 10.1038/s41586-022-05288-7. Epub 2022 Oct 5. Nature. 2022. PMID: 36198798 Free PMC article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK.
Young KS, Purves KL, Hübel C, Davies MR, Thompson KN, Bristow S, Krebs G, Danese A, Hirsch C, Parsons CE, Vassos E, Adey BN, Bright S, Hegemann L, Lee YT, Kalsi G, Monssen D, Mundy J, Peel AJ, Rayner C, Rogers HC, Ter Kuile A, Ward C, York K, Lin Y, Palmos AB, Schmidt U, Veale D, Nicholson TR, Pollak TA, Stevelink SAM, Moukhtarian T, Martineau AR, Holt H, Maughan B, Al-Chalabi A, Chaudhuri KR, Richardson MP, Bradley JR, Chinnery PF, Kingston N, Papadia S, Stirrups KE, Linger R, Hotopf M, Eley TC, Breen G. Young KS, et al. Psychol Med. 2023 Sep;53(12):5428-5441. doi: 10.1017/S0033291722002501. Epub 2022 Jul 26. Psychol Med. 2023. PMID: 35879886 Free PMC article.
41 results