Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies

por Jacquier, Arnaud, Roubille, Simon, Lomonte, Patrick, Schaeffer, Laurent
Publicado 2022

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

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report

por Pegat, Antoine, Streichenberger, Nathalie, Lacoste, Nicolas, Hermier, Marc, Menassa, Rita, Coudert, Laurent, Theuriet, Julian, Froissart, Roseline, Terrone, Sophie, Bouhour, Francoise, Michel-Calemard, Laurence, Schaeffer, Laurent, Jacquier, Arnaud
Publicado 2022

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

por Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe
Publicado 2017

Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments

por Musawi, Shaqraa, Donnio, Lise-Marie, Zhao, Zehui, Magnani, Charlène, Rassinoux, Phoebe, Binda, Olivier, Huang, Jianbo, Jacquier, Arnaud, Coudert, Laurent, Lomonte, Patrick, Martinat, Cécile, Schaeffer, Laurent, Mottet, Denis, Côté, Jocelyn, Mari, Pierre-Olivier, Giglia-Mari, Giuseppina
Publicado 2023

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

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

por Pipis, Menelaos, Cortese, Andrea, Polke, James M, Poh, Roy, Vandrovcova, Jana, Laura, Matilde, Skorupinska, Mariola, Jacquier, Arnaud, Juntas-Morales, Raul, Latour, Philippe, Petiot, Philippe, Sole, Guilhem, Fromes, Yves, Shah, Sachit, Blake, Julian, Choi, Byung-Ok, Chung, Ki Wha, Stojkovic, Tanya, Rossor, Alexander M, Reilly, Mary M
Publicado 2022

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

Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow

por Mishra, Vartika, Re, Diane B., Le Verche, Virginia, Alvarez, Mariano J., Vasciaveo, Alessandro, Jacquier, Arnaud, Doulias, Paschalis-Tomas, Greco, Todd M., Nizzardo, Monica, Papadimitriou, Dimitra, Nagata, Tetsuya, Rinchetti, Paola, Perez-Torres, Eduardo J., Politi, Kristin A., Ikiz, Burcin, Clare, Kevin, Than, Manuel E., Corti, Stefania, Ischiropoulos, Harry, Lotti, Francesco, Califano, Andrea, Przedborski, Serge
Publicado 2020