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Year Number of Results
2017 1
2018 1
2019 6
2020 4
2021 3
2022 0
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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: sabouny r. 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.
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS; Care4Rare Canada Consortium, Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE. Almutawa W, et al. Among authors: sabouny r. EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21. EBioMedicine. 2019. PMID: 31231018 Free PMC article.
Perturbed Mitochondrial Dynamics Is a Novel Feature of Colitis That Can Be Targeted to Lessen Disease.
Mancini NL, Goudie L, Xu W, Sabouny R, Rajeev S, Wang A, Esquerre N, Al Rajabi A, Jayme TS, van Tilburg Bernandes E, Nasser Y, Ferraz JGP, Shutt T, Shearer J, McKay DM. Mancini NL, et al. Among authors: sabouny r. Cell Mol Gastroenterol Hepatol. 2020;10(2):287-307. doi: 10.1016/j.jcmgh.2020.04.004. Epub 2020 Apr 13. Cell Mol Gastroenterol Hepatol. 2020. PMID: 32298841 Free PMC article.
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.
Machiraju P, Wang X, Sabouny R, Huang J, Zhao T, Iqbal F, King M, Prasher D, Lodha A, Jimenez-Tellez N, Ravandi A, Argiropoulos B, Sinasac D, Khan A, Shutt TE, Greenway SC. Machiraju P, et al. Among authors: sabouny r. Front Cardiovasc Med. 2019 Nov 15;6:167. doi: 10.3389/fcvm.2019.00167. eCollection 2019. Front Cardiovasc Med. 2019. PMID: 31803760 Free PMC article.
A synthetic peptide rescues rat cortical neurons from anesthetic-induced cell death, perturbation of growth and synaptic assembly.
Iqbal F, Pehar M, Thompson AJ, Azeem U, Jahanbakhsh K, Jimenez-Tellez N, Sabouny R, Batool S, Syeda A, Chow J, Machiraju P, Shutt T, Yusuf K, Shearer J, Rice T, Syed NI. Iqbal F, et al. Among authors: sabouny r. Sci Rep. 2021 Feb 25;11(1):4567. doi: 10.1038/s41598-021-84168-y. Sci Rep. 2021. PMID: 33633281 Free PMC article.
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