Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

por Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, Schaeffer, Laurent
Publicado 2022

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

por Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Publicado 2022

MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis

por Ghasemizadeh, Alireza, Christin, Emilie, Guiraud, Alexandre, Couturier, Nathalie, Abitbol, Marie, Risson, Valerie, Girard, Emmanuelle, Jagla, Christophe, Soler, Cedric, Laddada, Lilia, Sanchez, Colline, Jaque-Fernandez, Francisco-Ignacio, Jacquemond, Vincent, Thomas, Jean-Luc, Lanfranchi, Marine, Courchet, Julien, Gondin, Julien, Schaeffer, Laurent, Gache, Vincent
Publicado 2021

Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins

por Mangeot, Philippe E., Risson, Valérie, Fusil, Floriane, Marnef, Aline, Laurent, Emilie, Blin, Juliana, Mournetas, Virginie, Massouridès, Emmanuelle, Sohier, Thibault J. M., Corbin, Antoine, Aubé, Fabien, Teixeira, Marie, Pinset, Christian, Schaeffer, Laurent, Legube, Gaëlle, Cosset, François-Loïc, Verhoeyen, Els, Ohlmann, Théophile, Ricci, Emiliano P.
Publicado 2019

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

por Jacquier, Arnaud, Risson, Valérie, Simonet, Thomas, Roussange, Florine, Lacoste, Nicolas, Ribault, Shams, Carras, Julien, Theuriet, Julian, Girard, Emmanuelle, Grosjean, Isabelle, Le Goff, Laure, Kröger, Stephan, Meltoranta, Julia, Bauché, Stéphanie, Sternberg, Damien, Fournier, Emmanuel, Kostera-Pruszczyk, Anna, O’Connor, Emily, Eymard, Bruno, Lochmüller, Hanns, Martinat, Cécile, Schaeffer, Laurent
Publicado 2022

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

por Risson, Valérie, Mazelin, Laetitia, Roceri, Mila, Sanchez, Hervé, Moncollin, Vincent, Corneloup, Claudine, Richard-Bulteau, Hélène, Vignaud, Alban, Baas, Dominique, Defour, Aurélia, Freyssenet, Damien, Tanti, Jean-François, Le-Marchand-Brustel, Yannick, Ferrier, Bernard, Conjard-Duplany, Agnès, Romanino, Klaas, Bauché, Stéphanie, Hantaï, Daniel, Mueller, Matthias, Kozma, Sara C., Thomas, George, Rüegg, Markus A., Ferry, Arnaud, Pende, Mario, Bigard, Xavier, Koulmann, Nathalie, Schaeffer, Laurent, Gangloff, Yann-Gaël
Publicado 2009