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Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, DeAngelis MM, Schlötzer-Schrehardt U, Kim IK, Owen LA, Vetter JM, Pfeiffer N, Andrade-Navarro MA, Grosche A, Swaroop A, Wolfrum U. Nagel-Wolfrum K, et al. Among authors: becker mm. Hum Mol Genet. 2023 Jan 13;32(3):431-449. doi: 10.1093/hmg/ddac211. Hum Mol Genet. 2023. PMID: 35997788 Free PMC article.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 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: becker mm. 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.
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: becker mm. 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.
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: becker mm. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
86 results