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pro vyhledávání: '"Berta Estévez‐Arias"'
Autor:
Jesus Alfonso Armijo Gómez, Miguel A. Fernandez‐Garcia, Ana Camacho, Marlin Liz, Carlos Ortez, Miguel Lafuente‐Hidalgo, Laura Toledo Bravo‐de Laguna, Berta Estévez‐Arias, Laura Carrera‐García, Jessica Expósito‐Escudero, Jana Domínguez‐Carral, Andres Nascimento, Daniel Natera‐de Benito
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1456-1464 (2024)
Abstract Objective Duchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent dystrophin. These conditions, characterized by muscle weakness, also manifest central nerv
Externí odkaz:
https://doaj.org/article/cd4eecd753604546ac42df44e0ddea31
Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Autor:
Berta Estévez-Arias, Laura Carrera-García, Andrés Nascimento, Lara Cantarero, Janet Hoenicka, Francesc Palau
Publikováno v:
Journal of Translational Genetics and Genomics. 6:333-352
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting at least 1 in 2500 individuals. CMT refers to a heterogeneous group of inherited neuropathies from both phenotypic and genetic points of view. Over the l