Extensive morphological and immunohistochemical characterization in myotubular myopathy

por Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz
Publicado 2013

Comprehensive morphometric assessment of deltoid muscle development in children: A cross-sectional study

por Evangelista, Teresinha, Kandji, Malick, Lacene, Emmanuelle, Chanut, Anaïs, Bui, Mai Thao, Marty, Rudy, Buffat, Laurent, Knoblauch, Kenneth, Rudkin, Brian B., Romero, Norma Beatriz
Publicado 2022

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

por Falcone, Sestina, Roman, William, Hnia, Karim, Gache, Vincent, Didier, Nathalie, Lainé, Jeanne, Auradé, Frederic, Marty, Isabelle, Nishino, Ichizo, Charlet-Berguerand, Nicolas, Romero, Norma Beatriz, Marazzi, Giovanna, Sassoon, David, Laporte, Jocelyn, Gomes, Edgar R
Publicado 2014

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

por González-Jamett, Arlek M., Baez-Matus, Ximena, Olivares, María José, Hinostroza, Fernando, Guerra-Fernández, Maria José, Vasquez-Navarrete, Jacqueline, Bui, Mai Thao, Guicheney, Pascale, Romero, Norma Beatriz, Bevilacqua, Jorge A., Bitoun, Marc, Caviedes, Pablo, Cárdenas, Ana M.
Publicado 2017

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

por Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raffa, Salvatore, Pennisi, Elena Maria, Bertini, Enrico Silvio, Paradas, Carmen, Romero, Norma Beatriz, Antonini, Giovanni
Publicado 2018

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

por Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz
Publicado 2019

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

por Rossi, Daniela, Palmio, Johanna, Evilä, Anni, Galli, Lucia, Barone, Virginia, Caldwell, Tracy A., Policke, Rachel A., Aldkheil, Esraa, Berndsen, Christopher E., Wright, Nathan T., Malfatti, Edoardo, Brochier, Guy, Pierantozzi, Enrico, Jordanova, Albena, Guergueltcheva, Velina, Romero, Norma Beatriz, Hackman, Peter, Eymard, Bruno, Udd, Bjarne, Sorrentino, Vincenzo
Publicado 2017

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

por Géraud, Justine, Dieterich, Klaus, Rendu, John, Uro Coste, Emmanuelle, Dobrzynski, Murielle, Marcorelle, Pascale, Ioos, Christine, Romero, Norma Beatriz, Baudou, Eloise, Brocard, Julie, Coville, Anne-Cécile, Fauré, Julien, Koenig, Michel, Juntas Morales, Raul, Lacène, Emmanuelle, Madelaine, Angéline, Marty, Isabelle, Pegeot, Henri, Theze, Corinne, Siegfried, Aurore, Cossee, Mireille, Cances, Claude
Publicado 2021