Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Keity C. Bueno"'
Autor:
Adriana Borges Genari, Silmara P. Gouvea, Wilson Marques, Charles Marques Lourenço, Antonio Carlos dos Santos, Amilton Antunes Barreira, Patricia Leila dos Santos, Vinícius Horácio Stefani Borghetti, Keity C. Bueno
Publikováno v:
Neuromuscular Disorders. 21:428-432
Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phe
Autor:
Adriana Borges Genari, Wilson Marques, Keity C. Bueno, Cláudia Ferreira da Rosa Sobreira, Vinícius Horácio Stefani Borghetti, Silmara P. Gouvea, Amilton Antunes Barreira, Charles Marques Lourenço
Publikováno v:
neurogenetics. 11:135-138
Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently associated with unusually severe neuropathies, an observation that prompted the proposition that the additive effects of two mutations should be searched in patients whose clinica
Autor:
and Amilton A. Barreira Md, Charles Marques Lourenço, Rita C. C. Leal, Keity C. Bueno, Juliana B. Secchin, Wilson Marques, Monica Santiago Oliveira Amaral Carvalho
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626840c8db87381c78e690abe22e4c96
Autor:
Wilson A. Silva, L.C. Werneck, A.B. Genari, Keity C. Bueno, C.A. Funayama, Dalila Luciola Zanette, Wilson Marques, Ana Beatriz Bortolozo Oliveira, S.P. Gouvea, R.H. Scola
Publikováno v:
Neuroepidemiology. 36(2)
Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of th