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Now showing items 1-10 of 27

Artículo

González Jamett, Arlek M.; Haro-Acuña, Valentina; Momboisse, Fanny; Caviedes, Pablo; Bevilacqua, Jorge; Cárdenas, Ana María (2014)

Artículo

Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset

Bitoun, Marc; Bevilacqua, Jorge; Prudhon, Bernard; Maugenre, Svetlana; Taratuto, Ana Lia; Monges, Soledad; Lubieniecki, Fabiana; Cances, Claude; Uro-Coste, Emmanuelle; Mayer, Michèle; Fardeau, Michel; Romero, Norma Beatriz; Guicheney, Pascale (Wiley-Liss, 2007-12)

Artículo

Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients

Krahn, Martin; Béroud, Christophe; Labelle, Véronique; Nguyen, Karine; Bernard, Rafaëlle; Bassez, Guillaume; Figarella-Branger, Dominique; Fernández, Carla; Bouvenot, Julien; Richard, Isabelle; Ollagnon-Roman, Elisabeth; Bevilacqua, Jorge; Salvo, Eric; Attarian, Shahram; Chapon, Françoise; Pellissier, Jean-François; Pouget, Jean; Hammouda, El Hadi; Laforêt, Pascal; Urtizberea, Jon Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas (WILEY-LISS, 2008)

Artículo

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Bevilacqua, Jorge; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G.; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz (Springer-Verlag, 2008-12-16)

Artículo

Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells

Cárdenas, César; Juretić, Nevenka; Bevilacqua, Jorge; García, Isaac E.; Figueroa, Reinaldo; Hartley, Ricardo; Taratuto, Ana L.; Gejman, Roger; Riveros, Nora; Molgó, Jordi; Jaimovich Pérez, Enrique (2010)

Artículo

Further insights in nemaline myopathy (NM) with hyaline masses

Bevilacqua, Jorge; Malfatti, E.; Labasse, C.; Brochier, G.; Madelaine, A.; Lacene, E.; Rendu, J.; Doray, B.; de Monredon, J.; Laforet, P.; Eymard, B.; Fardeau, M.; Romero, N. B. (Elsevier, 2017)

Artículo

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

Wang, Haicui; Castiglioni, Claudia; Bayram, Ayse Kacar; Fattori, Fabiana; Pekuz, Serdar; Araneda, Diego; Per, Huseyin; Erazo, Ricardo; Gumus, Hakan; Zorludemir, Suzan; Becker, Kerstin; Ortega, Ximena; Bevilacqua, Jorge; Bertini, Enrico; Cirak, Sebahattin (Elsevier, 2017)

Artículo

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)

Artículo

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)

Artículo

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies

Cárdenas, Ana María; González Jamett, Arlek M.; Cea Pisani, Luis Andrés; Bevilacqua, Jorge; Caviedes Fernández, Pablo (2016)

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