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Bevilacqua, Jorge (25)
Caviedes Fernández, Pablo (7)Bitoun, Marc (6)Cárdenas, Ana María (6)Fardeau, Michel (5)González Jamett, Arlek M. (5)Guicheney, Pascale (5)Romero, Norma Beatriz (5)Castiglioni, Claudia (4)Romero, N. B. (4)... View MoreSubjectCentronuclear myopathy (3)Dysferlinopathy (3)Motor function measure (2)MTM1 gene (2)Neurology (clinical) (2)ACTA1, congenital myopathy (1)Alzheimer's disease (1)Alzheimer’s disease (1)Calcium (1)Cellular and Molecular Neuroscience (1)... View MoreDate Issued2010 - 2018 (18)2007 - 2009 (7)Document typeArtículo de revista (25)
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Artículountranslated
Dynamin-2 nervous system disorders 
González Jamett, Arlek M.; Aro Acuña, Valentina; Momboisse, Fanny; Caviedes Fernández, Pablo; Bevilacqua, Jorge; Cárdenas, Ana María (International Society for Neurochemistry, 2014)
Artículountranslated
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)
Artículountranslated
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)
Artículountranslated
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation 
Romero, Norma Beatriz; Bevilacqua, Jorge; Oldfors, Anders; Fardeau, Michel (PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)
Artículountranslated
“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)
Artículountranslated
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)
Artículountranslated
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)
Artículountranslated
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)
Artículountranslated
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization 
Bevilacqua, Jorge; Monnier, N.; Bitoun, Marc; Eymard, B.; Ferreiro, A.; Monges, S.; Lubieniecki, F.; Taratuto, A. L.; Laquerrière, A.; Claeys, K. G.; Marty, I.; Fardeau, M.; Guicheney, P.; Lunardi, J.; Romero, N. B. (British Neuropathological Society, 2011)
Artículountranslated
Distrofia miotónica tipo I (enfermedad de Steinert) y embarazo. Descripción de un caso clínico 
Hasbún Hernández, Jorge; Bevilacqua, Jorge; Luco M., María Inés; Catalán Martínez, Jorge (Sociedad Chilena de Neurología, Psiquiatría y Neurocirugía, 2010-10)
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