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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
de Albuquerque ALA, Chadanowicz JK, Bevilacqua IP, Staub ALP, Winckler PB, da Silva PZ, Fagondes SC, Ferrari RS, Trojahn CDO, Sacharuk VZ, Kowalski TW, Donis KC, Becker MM, Saute JAM. de Albuquerque ALA, et al. Among authors: winckler pb. J Pediatr (Rio J). 2025 Jan-Feb;101(1):38-45. doi: 10.1016/j.jped.2024.07.011. Epub 2024 Oct 16. J Pediatr (Rio J). 2025. PMID: 39426797 Free article.
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. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31268554
Evoked potentials as biomarkers of hereditary spastic paraplegias: A case-control study.
Brighente SF, Vicuña P, Rodrigues Louzada AL, Giordani GM, Fussiger H, Dos Santos MAR, Cubillos-Arcila DM, Winckler PB, Saute JAM. Brighente SF, et al. Among authors: winckler pb. PLoS One. 2021 Nov 30;16(11):e0259397. doi: 10.1371/journal.pone.0259397. eCollection 2021. PLoS One. 2021. PMID: 34847171 Free PMC article.
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: winckler pb. Clin Genet. 2024 Nov;106(5):644-649. doi: 10.1111/cge.14589. Epub 2024 Jul 17. Clin Genet. 2024. PMID: 39015008
Genetic profile of Brazilian patients with dystrophinopathies.
de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM, Saute JAM, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhães LVB, Gonçalves MVM, Marrone CD, Nucci A, França MC Jr. de Almeida PAD, et al. Among authors: winckler pb. Clin Genet. 2017 Aug;92(2):199-203. doi: 10.1111/cge.12975. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28116794
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