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Gene-based therapies for neuromuscular disorders.
Zanoteli E, França MC Jr, Marques W Jr. Zanoteli E, et al. Arq Neuropsiquiatr. 2024 Jun;82(6):1-10. doi: 10.1055/s-0043-1777755. Epub 2024 Feb 7. Arq Neuropsiquiatr. 2024. PMID: 38325390 Free PMC article.
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.
Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França MC Junior, Martinez ARM, Navarro MMM, Nucci A, Resende MBD, Gonçalves MVM, Gurgel-Giannetti J, Scola RH, Sobreira CFDR, Reed UC, Zanoteli E. Araujo APQC, et al. Among authors: zanoteli e. Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. doi: 10.1590/0004-282x20170112. Arq Neuropsiquiatr. 2017. PMID: 28813090 Free 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. 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.
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: zanoteli e. Neurol Genet. 2020 Sep 1;6(5):e505. doi: 10.1212/NXG.0000000000000505. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062891 Free PMC article.
Gene therapy in neuromuscular disorders.
Mendonça RH, Zanoteli E. Mendonça RH, et al. Among authors: zanoteli e. Arq Neuropsiquiatr. 2022 May;80(5 Suppl 1):249-256. doi: 10.1590/0004-282X-ANP-2022-S135. Arq Neuropsiquiatr. 2022. PMID: 35976325 Free PMC article. Review.
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: zanoteli e. J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30. J Neurol. 2018. PMID: 29383513 Free PMC article.
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA. Winckler PB, et al. Among authors: zanoteli e. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31268554
Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.
Moreno CAM, Camelo CG, Sampaio PHMA, Fonseca ATQSM, Estephan EP, Silva AMS, Pirola RN, Silva LHL, Lima KDF, Albuquerque MAV, Camelo Filho AE, Marques MVO, Yanagiura MT, Cavalcante WCP, Matsui Junior C, Isihi LMA, Mendonça RH, Pouza AFP, Carvalho MS, Reed UC, Zanoteli E. Moreno CAM, et al. Among authors: zanoteli e. Arq Neuropsiquiatr. 2022 Jun;80(6):563-569. doi: 10.1590/0004-282X-ANP-2021-0166. Arq Neuropsiquiatr. 2022. PMID: 35946707 Free PMC article.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Leoni TB, González-Salazar C, Rezende TJR, Hernández ALC, Mattos AHB, Coimbra Neto AR, da Graça FF, Gonçalves JPN, Martinez ARM, Taniguti L, Kitajima JP, Kok F, Rogério F, da Silva AMS, de Oliveira ALR, Zanoteli E, Nucci A, França MC Jr. Leoni TB, et al. Among authors: zanoteli e. Ann Neurol. 2021 Aug;90(2):239-252. doi: 10.1002/ana.26136. Epub 2021 Jun 14. Ann Neurol. 2021. PMID: 34048612
157 results