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Page 1
Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.
Batista EC, Zanoteli E, Monfardini F, Santos GPD, Silva GS, Berwanger O, Rizzo LV, Fonseca HARD. Batista EC, et al. Among authors: zanoteli e. Einstein (Sao Paulo). 2024 Dec 9;22:eAE1133. doi: 10.31744/einstein_journal/2024AE1133. eCollection 2024. Einstein (Sao Paulo). 2024. PMID: 39661851 Free PMC article.
Duchenne muscular dystrophy and Duane's syndrome: a rare association.
Pasqualin LM, Zanoteli E, Veloso MA, Frizzo SK, Resende MB, Abucham-Neto JZ, Polati M, Chadi G, Reed UC. Pasqualin LM, et al. Among authors: zanoteli e. Arq Neuropsiquiatr. 2013 Feb;71(2):127-8. doi: 10.1590/s0004-282x2013000200014. Arq Neuropsiquiatr. 2013. PMID: 23392326 Free article. No abstract available.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: zanoteli e. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Abath Neto O, Heise CO, Moreno CA, Estephan EP, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira AS, Reed UC, Biancalana V, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: zanoteli e. Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17. Can J Neurol Sci. 2017. PMID: 27748205 No abstract available.
Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis.
Carneiro A, Viana-Gomes D, Macedo-da-Silva J, Lima GHO, Mitri S, Alves SR, Kolliari-Turner A, Zanoteli E, Neto FRA, Palmisano G, Pesquero JB, Moreira JC, Pereira MD. Carneiro A, et al. Among authors: zanoteli e. Neuromuscul Disord. 2021 Jul;31(7):583-595. doi: 10.1016/j.nmd.2021.04.007. Epub 2021 May 6. Neuromuscul Disord. 2021. PMID: 34193371 Review.
166 results