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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: cavalcanti ebu. 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: cavalcanti ebu. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31268554
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.
Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França MC Junior, Martinez ARM, Navarro MMM, Nucci A, Resende MBD, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CFDR, Reed UC, Zanoteli E. Araujo APQC, et al. Among authors: cavalcanti ebu. Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282x20170112. Arq Neuropsiquiatr. 2017. PMID: 28813090 Free article.
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Silva AMS, Coimbra-Neto AR, Souza PVS, Winckler PB, Gonçalves MVM, Cavalcanti EBU, Carvalho AADS, Sobreira CFDR, Camelo CG, Mendonça RDH, Estephan EDP, Reed UC, Machado-Costa MC, Dourado-Junior MET, Pereira VC, Cruzeiro MM, Helito PVP, Aivazoglou LU, Camargo LVD, Gomes HH, Camargo AJSD, Pinto WBVDR, Badia BML, Libardi LH, Yanagiura MT, Oliveira ASB, Nucci A, Saute JAM, França-Junior MC, Zanoteli E. Silva AMS, et al. Among authors: cavalcanti ebu. Ann Clin Transl Neurol. 2019 Jul;6(7):1225-1238. doi: 10.1002/acn3.50801. Epub 2019 Jun 11. Ann Clin Transl Neurol. 2019. PMID: 31353849 Free PMC article.
Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
Araujo APQC, Saute JAM, Fortes CPDD, França MC Jr, Pereira JA, Albuquerque MAV, Carvalho AAS, Cavalcanti EBU, Covaleski APPM, Fagondes SC, Gurgel-Giannetti J, Gonçalves MVM, Martinez ARM, Coimbra Neto AR, Neves FR, Nucci A, Nucera APCDS, Pessoa ALS, Rebel MF, Santos FND, Scola RH, Sobreira CFDR. Araujo APQC, et al. Among authors: cavalcanti ebu. Arq Neuropsiquiatr. 2023 Jan;81(1):81-94. doi: 10.1055/s-0043-1761466. Epub 2023 Mar 14. Arq Neuropsiquiatr. 2023. PMID: 36918011 Free PMC article. Review.