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Page 1
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Gaviraghi T, Cavalcanti EBU, Lorenzoni PJ, Cotta A, de Souza PVS, de Oliveira AD, de Moraes MT, Marques MVO, Donis KC, Winckler PB, Costa E Silva C, Pinto WBVR, Kay CSK, Ducci RD, Rodrigues PRVP, Fustes OJH, da Silva AMS, Zanoteli E, França MC Jr, Sobreira CFR, Oliveira ASB, Carvalho EHT, Scola RH, Carvalho AAS, Saute JAM. Gaviraghi T, et al. Among authors: carvalho aas. Clin Genet. 2024 Nov;106(5):644-649. doi: 10.1111/cge.14589. Epub 2024 Jul 17. Clin Genet. 2024. PMID: 39015008
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA. Winckler PB, et al. Among authors: carvalho aas, carvalho e. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31268554
High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil.
Motta IA, Gouveia MLA, Braga APM, Andrade RS, Montenegro MFF, Gurgel SN, Albuquerque KMF, Souto PANG, Cardoso FPBF, Araujo JS, Pinheiro MCL, da Silva CEP, Gurgel PAS, Feder D, Perez MM, da Veiga GL, Alves BCA, Fonseca FLA, Carvalho AAS. Motta IA, et al. Among authors: carvalho aas. Curr Genomics. 2023 Dec 20;24(5):330-335. doi: 10.2174/0113892029257856231013115036. Curr Genomics. 2023. PMID: 38235354 Free PMC article.
Erythropoietin reduces the expression of myostatin in mdx dystrophic mice.
Feder D, Rugollini M, Santomauro A Jr, Oliveira LP, Lioi VP, Santos Rd, Ferreira LG, Nunes MT, Carvalho MH, Delgado PO, Carvalho AA, Fonseca FL. Feder D, et al. Braz J Med Biol Res. 2014 Nov;47(11):966-71. doi: 10.1590/1414-431X20143858. Epub 2014 Sep 5. Braz J Med Biol Res. 2014. PMID: 25296358 Free PMC article.
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F, Luzuriaga GDCJ, da Fonseca GWP, Correia EB, Carvalho AAS, Macedo AVS, Coelho-Filho OR, Scheinberg P, Antunes MO, Schwartzmann PV, Mangini S, Marques W, Simões MV. Fernandes F, et al. Among authors: carvalho aas. Orphanet J Rare Dis. 2024 Jul 20;19(1):273. doi: 10.1186/s13023-024-03281-z. Orphanet J Rare Dis. 2024. PMID: 39033298 Free PMC article.
Prone position effect in intensive care patients with SARS-COV-2 pneumonia.
Rebelo Oliveira SM, Ferreira AMDS, Silva PJV, Pinto CSS, Campello MGC, Carvalho AAS. Rebelo Oliveira SM, et al. Among authors: carvalho aas. Open Med (Wars). 2023 Jun 27;18(1):20230735. doi: 10.1515/med-2023-0735. eCollection 2023. Open Med (Wars). 2023. PMID: 37398899 Free PMC article.
30 results