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Page 1
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: ribeiro mdo. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. Gurgel-Giannetti J, et al. Among authors: ribeiro mdo. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. Brain. 2018. PMID: 30010796 Free PMC article.
[Use and Interpretation of Children's Drawing in Clinical Practice].
Da Silva Mendes S, Calejo Jorge J, Ribeiro MDC, Tomás E, Temudo T. Da Silva Mendes S, et al. Acta Med Port. 2022 Dec 2;35(12):856-858. doi: 10.20344/amp.18388. Epub 2022 Sep 12. Acta Med Port. 2022. PMID: 36098231 Free article. Portuguese. No abstract available.
Hereditary fructose intolerance in Brazilian patients.
Valadares ER, Cruz AF, Adelino TE, Kanufre Vde C, Ribeiro Mdo C, Penido MG, Peret Filho LA, Valadares LM. Valadares ER, et al. Among authors: ribeiro mdo c. Mol Genet Metab Rep. 2015 Jun 15;4:35-8. doi: 10.1016/j.ymgmr.2015.05.007. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937407 Free PMC article.
15 results