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MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.
Mathias B, O'Leary D, Saucier N, Ahmad F, White LS, Russell L, Shinawi M, Smith MJ, Abraham RS, Cooper MA, Kitcharoensakkul M, Green AM, Bednarski JJ. Mathias B, et al. Among authors: shinawi m. J Allergy Clin Immunol. 2024 Apr;153(4):1113-1124.e7. doi: 10.1016/j.jaci.2023.12.001. Epub 2023 Dec 6. J Allergy Clin Immunol. 2024. PMID: 38065233 Free article.
Primary Mitochondrial Disorders in the Neonate.
Starosta RT, Shinawi M. Starosta RT, et al. Among authors: shinawi m. Neoreviews. 2022 Dec 1;23(12):e796-e812. doi: 10.1542/neo.23-12-e796. Neoreviews. 2022. PMID: 36450643 Review.
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Among authors: shinawi m. Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22. Mol Genet Metab. 2023. PMID: 37392700
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: shinawi m. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
255 results