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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: becker mm. J Pediatr (Rio J). 2024 Oct 16:S0021-7557(24)00126-8. doi: 10.1016/j.jped.2024.07.011. Online ahead of print. J Pediatr (Rio J). 2024. PMID: 39426797 Free article.
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E, Araujo APQC, Becker MM, Fortes CPDD, França MC Jr, Machado-Costa MC, Marques W Jr, Matsui C Jr, Mendonça RH, Nardes F, Oliveira ASB, Pessoa ALS, Saute JAM, Sgobbi P, Van der Linden H Jr, Gurgel-Giannetti J. Zanoteli E, et al. Among authors: becker mm. Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5. Arq Neuropsiquiatr. 2024. PMID: 38316428 Free PMC article.
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Oliveira Netto AB, Brusius-Facchin AC, Lemos JF, Pasetto FB, Brasil CS, Trapp FB, Saute JAM, Donis KC, Becker MM, Wiest P, Coutinho VLS, Castro S, Ferreira J, Silveira C, Bittar MFR, Wang C, Lana JM, França Junior MC, Giugliani R. Oliveira Netto AB, et al. Among authors: becker mm. Genet Mol Biol. 2023 Dec 11;46(3 Suppl 1):e20230126. doi: 10.1590/1678-4685-GMB-2023-0126. eCollection 2023. Genet Mol Biol. 2023. PMID: 38091267 Free PMC article.
87 results