Browsing by Subject "Dysferlinopathy"

Now showing items 1-5 of 5

    • Broadening the imaging phenotype of dysferlinopathy at different diseasestages 
      Díaz Jara, Jorge; Woudt, Lisanne; Suazo Rojas, Lionel Andrés; Garrido Inostroza, Cristian Alejandro; Caviedes Fernández, Pablo; Cárdenas, Ana María; Bevilacqua, Jorge (2016)
      Introduction: MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction. ...
    • Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are ... 
      Báez Matus, Ximena; Figueroa Cares, Cindel; González Jamett, Arlek M.; Almarza Salazar, Hugo; Arriagada, Christian; Maldifassi, María Constanza; Guerra, María José; Mouly, Vincent; Bigot, Anne; Caviedes Fernández, Pablo; Cárdenas, Ana M. (MDPI, 2020)
      Dysferlin is a transmembrane C-2 domain-containing protein involved in vesicle trafficking and membrane remodeling in skeletal muscle cells. However, the mechanism by which dysferlin regulates these cellular processes ...
    • N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient ... 
      García Campos, Paz; Báez Matus, Ximena; Jara Gutiérrez, Carlos; Paz Araos, Marilyn; Astorga, César; Cea, Luis A.; Rodríguez, Viviana; Bevilacqua, Jorge A.; Caviedes, Pablo; Cárdenas, Ana M. (MDPI, 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 ...
    • The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes 
      Cea Pisani, Luis Andrés; Bevilacqua, Jorge; Arriagada Abarzúa, Christian; Cárdenas, Ana María; Bigot, Anne; Mouly, Vincent; Sáez, Juan C.; Caviedes Fernández, Pablo (2016)
      Background: Mutations in the gene encoding for dysferlin cause recessive autosomal muscular dystrophies called dysferlinopathies. These mutations induce several alterations in skeletal muscles, including, inflammation, ...
    • Toward an objective measure of functional disability in dysferlinopathy 
      Woudt, Lisanne; Di Capua, Gabriella A.; Krahn, Martin; Castiglioni, Claudia; Hughes García, Ricardo; Campero Soffia, Mario; Trangulao, Alejandra; González Hormazabal, Patricio; Godoy Herrera, Raúl; Levy, Nicolas; Urtizberea, Jon Andoni; Jara, Lilian; Bevilacqua, Jorge (WILEY-BLACKWELL, 2016)
      Introduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients ...