Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Jorge A, Bevilacqua"'
Autor:
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder an
Externí odkaz:
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Autor:
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetical
Externí odkaz:
https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb
Autor:
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Publikováno v:
Genes, Vol 13, Iss 6, p 1076 (2022)
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Externí odkaz:
https://doaj.org/article/b6d4a30088a545e0b6883988fde21b16
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 6, Pp 599-610 (2018)
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética. En esta revisión se describirá conce
Externí odkaz:
https://doaj.org/article/47bafeeb4f134b0684d600f10dbe9a14
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 6, Pp 611-621 (2018)
RESUMEN: Las miopatías inflamatorias son un grupo heterogéneo de enfermedades adquiridas del músculo estriado esquelético que comparten la injuria muscular inmunomediada como característica común. En esta revisión se repasarán las principales
Externí odkaz:
https://doaj.org/article/0348a7f0614f4b958445c66d40158bc1
Autor:
Carla Basualto-Alarcón, Félix A Urra, María Francisca Bozán, Fabián Jaña, Alejandra Trangulao, Jorge A Bevilacqua, J César Cárdenas
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242443 (2020)
Idiopathic Inflammatory Myopathies (IIMs) have been studied within the framework of autoimmune diseases where skeletal muscle appears to have a passive role in the illness. However, persiting weakness even after resolving inflammation raises question
Externí odkaz:
https://doaj.org/article/8ac7220ddf364f8da39eff85fbfced1c
Autor:
Jorge A. Bevilacqua, Juan Pablo Contreras, Alejandra Trangulao, Úrsula Hernández, Guy Brochier, Jorge Díaz, Ricardo Hughes, Mario Campero, Norma B. Romero
Publikováno v:
Neuromuscular Disorders. 32:687-691
Autor:
Arlek M. González-Jamett, Ximena Baez-Matus, María José Olivares, Fernando Hinostroza, Maria José Guerra-Fernández, Jacqueline Vasquez-Navarrete, Mai Thao Bui, Pascale Guicheney, Norma Beatriz Romero, Jorge A. Bevilacqua, Marc Bitoun, Pablo Caviedes, Ana M. Cárdenas
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy
Externí odkaz:
https://doaj.org/article/9c9e6b6e323144c598b2710c66121577
Publikováno v:
Revista Médica Clínica Las Condes, Vol 29, Iss 5, Pp 499-501 (2018)
RESUMEN: Desde el año 2008 un grupo de expertos europeos y latinoamericanos unen sus fuerzas para aumentar la consciencia y el conocimiento en este campo emergente de la medicina moderna. Gracias a un evento educacional anual llamado EVELAM, enseña
Externí odkaz:
https://doaj.org/article/a93c806e69c24db78d407a30a1d826c7
Autor:
Paz García-Campos, Ximena Báez-Matus, Carlos Jara-Gutiérrez, Marilyn Paz-Araos, César Astorga, Luis A. Cea, Viviana Rodríguez, Jorge A. Bevilacqua, Pablo Caviedes, Ana M. Cárdenas
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 12, p 4293 (2020)
Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of oxidative stress have been obse
Externí odkaz:
https://doaj.org/article/a3dd6bda63374bf4a8df61aa24b9c6ac