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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Among authors: souza ls. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy.
Fernandes SA, Almeida CF, Souza LS, Lazar M, Onofre-Oliveira P, Yamamoto GL, Nogueira L, Tasaki LY, Cardoso RR, Pavanello RCM, Silva HCA, Ferrari MFR, Bigot A, Mouly V, Vainzof M. Fernandes SA, et al. Among authors: souza ls. Dis Model Mech. 2020 Jan 10;13(2):dmm041244. doi: 10.1242/dmm.041244. Dis Model Mech. 2020. PMID: 31826868 Free PMC article.
Sarcoglycanopathies: an update.
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Vainzof M, et al. Among authors: souza ls. Neuromuscul Disord. 2021 Oct;31(10):1021-1027. doi: 10.1016/j.nmd.2021.07.014. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34404573 Review.
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: souza ls. 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
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A Jr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M. Cotta A, et al. Among authors: souza ls. Genes (Basel). 2022 Apr 26;13(5):760. doi: 10.3390/genes13050760. Genes (Basel). 2022. PMID: 35627144 Free PMC article.
143 results