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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: thompson c. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Ciprofloxacin-associated hemolytic-uremic syndrome.
Allan DS, Thompson CM, Barr RM, Clark WF, Chin-Yee IH. Allan DS, et al. Ann Pharmacother. 2002 Jun;36(6):1000-2. doi: 10.1345/aph.1A350. Ann Pharmacother. 2002. PMID: 12022900
Phlebotomy resulting in controlled hypovolaemia to prevent blood loss in major hepatic resections (PRICE-1): a pilot randomized clinical trial for feasibility.
Martel G, Baker L, Wherrett C, Fergusson DA, Saidenberg E, Workneh A, Saeed S, Gadbois K, Jee R, McVicar J, Rao P, Thompson C, Wong P, Abou Khalil J, Bertens KA, Balaa FK. Martel G, et al. Among authors: thompson c. Br J Surg. 2020 Jun;107(7):812-823. doi: 10.1002/bjs.11463. Epub 2020 Jan 22. Br J Surg. 2020. PMID: 31965573 Clinical Trial.
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB, Cornett SL, Wang LA, Jo S, Brünger T, Budnik N, Hegde M, DeKeyser JM, Thompson CH, Doench JG, Lal D, George AL Jr, Pan JQ. Pablo JLB, et al. Among authors: thompson ch. Cell Rep. 2024 May 31;43(6):114327. doi: 10.1016/j.celrep.2024.114327. Online ahead of print. Cell Rep. 2024. PMID: 38823014 Free article. No abstract available.
7,678 results