Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases

por Meunier, Justine, Villar-Quiles, Rocio-Nur, Duband-Goulet, Isabelle, Ferreiro, Ana
Publicado 2021

SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

por Varone, Ersilia, Pozzer, Diego, Di Modica, Simona, Chernorudskiy, Alexander, Nogara, Leonardo, Baraldo, Martina, Cinquanta, Mario, Fumagalli, Stefano, Villar-Quiles, Rocio Nur, De Simoni, Maria-Grazia, Blaauw, Bert, Ferreiro, Ana, Zito, Ester
Publicado 2019

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

por Roy, Bhaskar, Peck, Allison, Evangelista, Teresinha, Pfeffer, Gerald, Wang, Leo, Diaz‐Manera, Jordi, Korb, Manisha, Wicklund, Matthew P., Milone, Margherita, Freimer, Miriam, Kushlaf, Hani, Villar‐Quiles, Rocio‐Nur, Stojkovic, Tanya, Needham, Merrilee, Palmio, Johanna, Lloyd, Thomas E., Keung, Benison, Mozaffar, Tahseen, Weihl, Conrad Chris, Kimonis, Virginia
Publicado 2023

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

por Filipe, Anne, Chernorudskiy, Alexander, Arbogast, Sandrine, Varone, Ersilia, Villar-Quiles, Rocío-Nur, Pozzer, Diego, Moulin, Maryline, Fumagalli, Stefano, Cabet, Eva, Dudhal, Swati, De Simoni, Maria-Grazia, Denis, Raphaël, Vadrot, Nathalie, Dill, Corinne, Giovarelli, Matteo, Szweda, Luke, De Palma, Clara, Pinton, Paolo, Giorgi, Carlotta, Viscomi, Carlo, Clementi, Emilio, Missiroli, Sonia, Boncompagni, Simona, Zito, Ester, Ferreiro, Ana
Publicado 2020

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

por Pisella, Lucie Isoline, Fernandes, Sara, Solé, Guilhem, Stojkovic, Tanya, Tard, Céline, Chanson, Jean-Baptiste, Bouhour, Françoise, Salort-Campana, Emmanuelle, Beaudonnet, Guillemette, Debergé, Louise, Duval, Fanny, Grapperon, Aude-Marie, Masingue, Marion, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Audic, Frédérique, Behin, Anthony, Friedman, Diane, Magot, Armelle, Noury, Jean-Baptiste, Souvannanorath, Sarah, Wahbi, Karim, Antoine, Jean-Christophe, Bigaut, Kévin, Camdessanché, Jean-Philippe, Cintas, Pascal, Debs, Rabab, Espil-Taris, Caroline, Kremer, Laurent, Kuntzer, Thierry, Laforêt, Pascal, Laugel, Vincent, Mallaret, Martial, Michaud, Maud, Nollet, Sylvain, Svahn, Juliette, Vicart, Savine, Villar-Quiles, Rocio Nur, Desguerre, Isabelle, Adams, David, Segovia-Kueny, Sandrine, Merret, Géraldine, Hammouda, Elhadi, Molon, Annamaria, Attarian, Shahram
Publicado 2021

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

por Esteller, Diana, Schiava, Marianela, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schöser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., Díaz-Manera, Jordi
Publicado 2023