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PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
Doe J, Kaindl AM, Jijiwa M, de la Vega M, Hu H, Griffiths GS, Fontelonga TM, Barraza P, Cruz V, Van Ry P, Ramos JW, Burkin DJ, Matter ML. Doe J, et al. Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048. Hum Mol Genet. 2017. PMID: 28175314 Free PMC article.
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. Among authors: fontelonga tm. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.
SU9516 Increases α7β1 Integrin and Ameliorates Disease Progression in the mdx Mouse Model of Duchenne Muscular Dystrophy.
Sarathy A, Wuebbles RD, Fontelonga TM, Tarchione AR, Mathews Griner LA, Heredia DJ, Nunes AM, Duan S, Brewer PD, Van Ry T, Hennig GW, Gould TW, Dulcey AE, Wang A, Xu X, Chen CZ, Hu X, Zheng W, Southall N, Ferrer M, Marugan J, Burkin DJ. Sarathy A, et al. Among authors: fontelonga tm. Mol Ther. 2017 Jun 7;25(6):1395-1407. doi: 10.1016/j.ymthe.2017.03.022. Epub 2017 Apr 5. Mol Ther. 2017. PMID: 28391962 Free PMC article.
15 results