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Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review.
Pinto WBVR, Souza PVS, Badia BML, Farias IB, Albuquerque Filho JMV, Gonçalves EA, Machado RIL, Oliveira ASB. Pinto WBVR, et al. Among authors: goncalves ea. Arq Neuropsiquiatr. 2021 Oct;79(10):912-923. doi: 10.1590/0004-282X-ANP-2020-0429. Arq Neuropsiquiatr. 2021. PMID: 34706022 Free article. Review.
Clinical and radiological profile of patients with spinal muscular atrophy type 4.
Souza PVS, Pinto WBVR, Ricarte A, Badia BML, Seneor DD, Teixeira DT, Caetano L, Gonçalves EA, Chieia MAT, Farias IB, Bertini E, Oliveira ASB. Souza PVS, et al. Among authors: goncalves ea. Eur J Neurol. 2021 Feb;28(2):609-619. doi: 10.1111/ene.14587. Epub 2020 Nov 12. Eur J Neurol. 2021. PMID: 33090613
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E. Mendonça RH, et al. Among authors: goncalves ea. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
18 results