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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: staub alp. 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.
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.
Al Saati A, Vande Perre P, Plenecassagnes J, Gilhodes J, Monselet N, Cabarrou B, Lignon N, Filleron T, Telly D, Perello-Lestrade E, Feillel V, Staub A, Martinez M, Chipoulet E, Collet G, Thomas F, Gladieff L, Toulas C. Al Saati A, et al. Among authors: staub a. Int J Mol Sci. 2023 Sep 20;24(18):14348. doi: 10.3390/ijms241814348. Int J Mol Sci. 2023. PMID: 37762649 Free PMC article.
Estimated costs for Duchenne muscular dystrophy care in Brazil.
Schneider NB, Roos EC, Staub ALP, Bevilacqua IP, de Almeida AC, de Camargo Martins T, Ramos NB, Loze P, Saute JAM, Etges APBDS, Polanczyk CA. Schneider NB, et al. Among authors: staub alp. Orphanet J Rare Dis. 2023 Jun 22;18(1):159. doi: 10.1186/s13023-023-02767-6. Orphanet J Rare Dis. 2023. PMID: 37349725 Free PMC article.
303 results