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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.
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Abath Neto O, Martins Cde A, Carvalho M, Chadi G, Seitz KW, Oliveira AS, Reed UC, Laporte J, Zanoteli E. Abath Neto O, et al. Among authors: zanoteli e. Genet Mol Biol. 2015 May;38(2):147-51. doi: 10.1590/S1415-4757382220140238. Epub 2015 May 1. Genet Mol Biol. 2015. PMID: 26273216 Free PMC article.
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 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.
Telethonin protein expression in neuromuscular disorders.
Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M. Vainzof M, et al. Among authors: zanoteli e. Biochim Biophys Acta. 2002 Oct 9;1588(1):33-40. doi: 10.1016/s0925-4439(02)00113-8. Biochim Biophys Acta. 2002. PMID: 12379311 Free article.
166 results