Miopatías inflamatorias

by Jorge A. Bevilacqua, MD, PhD, Nicholas Earle, MD
Published 2018-11-01

Distrofias musculares en el paciente adulto

by Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD
Published 2018-11-01

Enfermedades neuromusculares en el adolescente. síntomas y signos clínicos orientadores al diagnóstico

by Claudia Castiglioni, Md, Jorge A. Bevilacqua, Md, Phd, KLGA. Cecilia Hervias
Published 2015-01-01

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

by Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vászquez, Ricardo A. Maselli
Published 2017-09-01

Cuando el continente LatinoAmericano empezó a involucrarse más activamente en el tema neuromuscular …

by J. Andoni Urtizberea, MD, Norma B. Romero, MD, PhD, Jorge A. Bevilacqua, MD, PhD
Published 2018-09-01

Idiopathic inflammatory myopathy human derived cells retain their ability to increase mitochondrial function.

by Carla Basualto-Alarcón, Félix A Urra, María Francisca Bozán, Fabián Jaña, Alejandra Trangulao, Jorge A Bevilacqua, J César Cárdenas
Published 2020-01-01

<i>N</i>-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice

by 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
Published 2020-06-01

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

by Karin ALVAREZ, Bernardita SUAREZ, María Angélica PALOMINO, Cecilia HERVIAS, Giancarlo CALCAGNO, Maripaz MARTÍNEZ-JALILIE, Andrés LOZANO-ARANGO, Susana LILLO, Mariana HARO, Fanny CORTÉS, Samuel PANTOJA, Andrés CHAHIN, Paulina ORELLANA, Jorge A BEVILACQUA, Enrico BERTINI, Claudia CASTIGLIONI

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

by 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
Published 2020-01-01

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells

by 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
Published 2017-07-01

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

by 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
Published 2022-06-01