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A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti J, Souza LS, Messina de Pádua Andrade GF, Derlene MF, Meira ZMA, Azevedo BVM, Jr WC, Diniz SSL, Carvalhais MB, Oliveira JRS, Uliana L, Bráulio R, Costa PHN, Filho GB, Vainzof M. Gurgel-Giannetti J, et al. Among authors: diniz ssl. Neuromuscul Disord. 2021 Nov;31(11):1199-1206. doi: 10.1016/j.nmd.2021.09.005. Epub 2021 Sep 21. Neuromuscul Disord. 2021. PMID: 34742623
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F. Inuzuka LM, et al. Among authors: diniz ssl. Eur J Paediatr Neurol. 2021 Sep;34:7-13. doi: 10.1016/j.ejpn.2021.05.013. Epub 2021 Jun 21. Eur J Paediatr Neurol. 2021. PMID: 34271245
Hereditary thrombotic thrombocytopenic purpura: a case report.
Borborema TS, Diniz SSL, Lima JS, Costa FF, Murao M, Campos MK. Borborema TS, et al. Among authors: diniz ssl. Hematol Transfus Cell Ther. 2022 Apr-Jun;44(2):269-271. doi: 10.1016/j.htct.2020.08.007. Epub 2020 Sep 13. Hematol Transfus Cell Ther. 2022. PMID: 33028508 Free PMC article. No abstract available.