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Page 1
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias.
Jacinto-Scudeiro LA, Machado GD, Ayres A, Burguêz D, Polese-Bonatto M, González-Salazar C, Siebert M, França Junior MC, Olchik MR, Saute JAM. Jacinto-Scudeiro LA, et al. Among authors: saute jam. Arq Neuropsiquiatr. 2019 Dec;77(12):843-847. doi: 10.1590/0004-282X20190180. Arq Neuropsiquiatr. 2019. PMID: 31939580 Free article.
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: saute jam. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC; Rare-Genomes Project Consortium; Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. Fussiger H, et al. Among authors: saute jam. Clin Genet. 2023 May;103(5):580-584. doi: 10.1111/cge.14280. Epub 2023 Jan 15. Clin Genet. 2023. PMID: 36537231
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: saute jam. 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.
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: saute jam. 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.
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: saute jam. 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.
Interleukin-6 serum levels in patients with Parkinson's disease.
Hofmann KW, Schuh AF, Saute J, Townsend R, Fricke D, Leke R, Souza DO, Portela LV, Chaves ML, Rieder CR. Hofmann KW, et al. Neurochem Res. 2009 Aug;34(8):1401-4. doi: 10.1007/s11064-009-9921-z. Epub 2009 Feb 13. Neurochem Res. 2009. PMID: 19214748
72 results