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Severe brain involvement in 5q spinal muscular atrophy type 0.
Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Mendonça RH, et al. Among authors: zanoteli e. Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24. Ann Neurol. 2019. PMID: 31301241
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.
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.
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.
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: zanoteli e. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 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.
166 results