Extensive morphological and immunohistochemical characterization in myotubular myopathy

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

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

ανά 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
Τόπος έκδοσης EMBO Mol Med (2014)

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

ανά 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.
Τόπος έκδοσης Sci Rep (2017)

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

ανά 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
Τόπος έκδοσης Acta Neuropathol Commun (2018)

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

ανά 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
Τόπος έκδοσης Acta Neuropathol Commun (2019)

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy

ανά De Cid, Rafael, Ben Yaou, Rabah, Roudaut, Carinne, Charton, Karine, Baulande, Sylvain, Leturcq, France, Romero, Norma Beatriz, Malfatti, Edoardo, Beuvin, Maud, Vihola, Anna, Criqui, Audrey, Nelson, Isabelle, Nectoux, Juliette, Ben Aim, Laurène, Caloustian, Christophe, Olaso, Robert, Udd, Bjarne, Bonne, Gisèle, Eymard, Bruno, Richard, Isabelle
Τόπος έκδοσης Neurology (2015)

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

ανά 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
Τόπος έκδοσης PLoS One (2017)

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

ανά Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Τόπος έκδοσης Neurology (2018)

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

ανά Malfatti, Edoardo, Olivé, Montse, Taratuto, Ana Lía, Richard, Pascale, Brochier, Guy, Bitoun, Marc, Gueneau, Lucie, Laforêt, Pascal, Stojkovic, Tanya, Maisonobe, Thierry, Monges, Soledad, Lubieniecki, Fabiana, Vasquez, Gabriel, Streichenberger, Nathalie, Lacène, Emmanuelle, Saccoliti, Maria, Prudhon, Bernard, Alexianu, Marilena, Figarella-Branger, Dominique, Schessl, Joachim, Bonnemann, Carsten, Eymard, Bruno, Fardeau, Michel, Bonne, Gisèle, Romero, Norma Beatriz
Τόπος έκδοσης J Neuropathol Exp Neurol (2013)

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

ανά Baumann, Matthias, Giunta, Cecilia, Krabichler, Birgit, Rüschendorf, Franz, Zoppi, Nicoletta, Colombi, Marina, Bittner, Reginald E., Quijano-Roy, Susana, Muntoni, Francesco, Cirak, Sebahattin, Schreiber, Gudrun, Zou, Yaqun, Hu, Ying, Romero, Norma Beatriz, Carlier, Robert Yves, Amberger, Albert, Deutschmann, Andrea, Straub, Volker, Rohrbach, Marianne, Steinmann, Beat, Rostásy, Kevin, Karall, Daniela, Bönnemann, Carsten G., Zschocke, Johannes, Fauth, Christine
Έκδοση 2012

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

ανά O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.
Τόπος έκδοσης Am J Hum Genet (2016)