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Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction.
Wood GK, Sargent BF, Ahmad ZU, Tharmaratnam K, Dunai C, Egbe FN, Martin NH, Facer B, Pendered SL, Rogers HC, Hübel C, van Wamelen DJ, Bethlehem RAI, Giunchiglia V, Hellyer PJ, Trender W, Kalsi G, Needham E, Easton A, Jackson TA, Cunningham C, Upthegrove R, Pollak TA, Hotopf M, Solomon T, Pett SL, Shaw PJ, Wood N, Harrison NA, Miller KL, Jezzard P, Williams G, Duff EP, Williams S, Zelaya F, Smith SM, Keller S, Broome M, Kingston N, Husain M, Vincent A, Bradley J, Chinnery P, Menon DK, Aggleton JP, Nicholson TR, Taylor JP, David AS, Carson A, Bullmore E, Breen G, Hampshire A; COVID-CNS Consortium; Michael BD, Paddick SM, Leek EC. Wood GK, et al. Among authors: chinnery p. Nat Med. 2024 Sep 23. doi: 10.1038/s41591-024-03309-8. Online ahead of print. Nat Med. 2024. PMID: 39312956
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Nat Commun. 2020 Apr 8;11(1):1740. doi: 10.1038/s41467-020-15336-3. Nat Commun. 2020. PMID: 32269217 Free PMC article.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Gupta R, Kanai M, Durham TJ, Tsuo K, McCoy JG, Kotrys AV, Zhou W, Chinnery PF, Karczewski KJ, Calvo SE, Neale BM, Mootha VK. Gupta R, et al. Nature. 2023 Aug;620(7975):839-848. doi: 10.1038/s41586-023-06426-5. Epub 2023 Aug 16. Nature. 2023. PMID: 37587338 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, Downes SM, Németh AH, 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. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 Free article. No abstract available.
Show MERCI on mobile mitochondria.
van den Ameele J, Chinnery PF. van den Ameele J, et al. Cell Metab. 2024 Jan 2;36(1):5-7. doi: 10.1016/j.cmet.2023.12.017. Cell Metab. 2024. PMID: 38171338 Free article.
696 results