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Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: oliveira asb. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 Free PMC article. Review.
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: oliveira asb. Clin Genet. 2024 Nov;106(5):644-649. doi: 10.1111/cge.14589. Epub 2024 Jul 17. Clin Genet. 2024. PMID: 39015008
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL, Rodrigues TPV, Pinto LD, Pereira IC, Farias IB, Cavalheiro RBR, Mendes PM, Peixoto KO, Barile JP, Seneor DD, Correa Silva EG, Oliveira ASB, Pinto WBVR, Sgobbi P. Serrano PL, et al. Among authors: oliveira asb. Curr Issues Mol Biol. 2024 May 5;46(5):4309-4323. doi: 10.3390/cimb46050262. Curr Issues Mol Biol. 2024. PMID: 38785530 Free PMC article.
Neurofilament light chain as a biomarker for acute hepatic porphyrias.
Sgobbi P, Serrano PL, Badia BML, Farias IB, de Oliveira HB, Barbosa AS, Pereira CA, Moreira VF, Pinto ÍFN, Oliveira ASB, Pinto WBVR. Sgobbi P, et al. Among authors: oliveira asb. Front Neurol. 2024 Apr 18;15:1384678. doi: 10.3389/fneur.2024.1384678. eCollection 2024. Front Neurol. 2024. PMID: 38715693 Free PMC article.
230 results