Zobrazeno 1 - 10
of 14
pro vyhledávání: '"S Teijeira-Bautista"'
Publikováno v:
Revista de neurologia. 37(8)
To analyse the different methodologies and their technical approaches, and compare the value and specificity of each of them in the diagnostic interpretation of muscular biopsies.Since the first descriptions by Duchenne in the 19th century, a series
[Dystrophinopathies, congenital muscular dystrophy, limb-girdle dystrophies: updated classification]
Autor:
S, Teijeira-Bautista, D, García-García, A, Teijeiro-Ferreira, R, Fernández-Hojas, J M, Fernández-Rodríguez, C, Navarro-Fernández-Balbuena
Publikováno v:
Revista de neurologia. 26(154)
To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matri
Autor:
D, García-García, S, Teijeira-Bautista, J M, Fernández-Rodríguez, J, Flores-Calvete, P, Sánchez-Espíldora, D, Fernández-Couto, I, Cimas-Hernando, A, Teijeiro-Ferreira, R, Fernández-Hojas, J, Brasa-Fernández Fierros, A, Martínez de Alegría, J L, Escribano-Arias, M, Núñez-Delgado, C, Navarro-Fernández Balbuena
Publikováno v:
Revista de neurologia. 26(154)
Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12,
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Fernández-Hojas R, D García-García, A Teijeiro-Ferreira, S Teijeira-Bautista, C Navarro-Fernández-Balbuena, J M Fernández-Rodríguez
Publikováno v:
Revista de Neurología. 26:1021
Objectives To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracel
Autor:
Sánchez-Espíldora P, Flores-Calvete J, Fernández-Hojas R, Martínez de Alegría A, Núñez-Delgado M, A Teijeiro-Ferreira, D García-García, Cimas-Hernando I, Navarro-Fernández Balbuena C, J M Fernández-Rodríguez, Fernández-Couto D, Escribano-Arias Jl, S Teijeira-Bautista, Brasa-Fernández Fierros J
Publikováno v:
Revista de Neurología. 26:905
INTRODUCTION Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Biferi MG; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, 75013 Paris, France., Cohen-Tannoudji M; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, 75013 Paris, France., García-Silva A; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Souto-Rodríguez O; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Viéitez-González I; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., San-Millán-Tejado B; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Fernández-Carrera A; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Pérez-Márquez T; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Teijeira-Bautista S; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Barrera S; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain., Domínguez V; Bioexperimentation Service of the University of Vigo (Sbio), Campus Universitario Lagoas, Marcosende, 36310 Vigo, Spain.; CINBIO, Centro de Investigaciones Biomédicas, Universidade de Vigo, Immunology Group, Campus Universitario Lagoas, Marcosende, 36310 Vigo, Spain.; Immunology Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain., Marais T; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, 75013 Paris, France., González-Fernández Á; CINBIO, Centro de Investigaciones Biomédicas, Universidade de Vigo, Immunology Group, Campus Universitario Lagoas, Marcosende, 36310 Vigo, Spain.; Immunology Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain., Barkats M; Sorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, 75013 Paris, France., Ortolano S; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, 36312 Vigo, Spain.
Publikováno v:
Molecular therapy. Methods & clinical development [Mol Ther Methods Clin Dev] 2020 Oct 22; Vol. 20, pp. 1-17. Date of Electronic Publication: 2020 Oct 22 (Print Publication: 2021).