Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

von Vasli, Nasim, Laugel, Vincent, Böhm, Johann, Lannes, Béatrice, Biancalana, Valérie, Laporte, Jocelyn
Veröffentlicht 2012

Do French Consumers Have the Same Social Representations of Pulses as Food Industry Professionals?

von Melendrez-Ruiz, Juliana, Arvisenet, Gaëlle, Laugel, Vincent, Chambaron, Stéphanie, Monnery-Patris, Sandrine
Veröffentlicht in Foods (2020)

Cockayne syndrome: a diffusion tensor imaging and volumetric study

von Koob, Mériam, Rousseau, François, Laugel, Vincent, Meyer, Nicolas, Armspach, Jean-Paul, Girard, Nadine, Dietemann, Jean-Louis
Veröffentlicht in Br J Radiol (2016)

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

von Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège
Veröffentlicht in Eur J Hum Genet (2018)

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

von Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis
Veröffentlicht 2002

The onset of acute oxcarbazepine toxicity related to prescription of clarithromycin in a child with refractory epilepsy

von Santucci, Raoul, Fothergill, Helen, Laugel, Vincent, Perville, Anne, De Saint Martin, Anne, Gerout, Anne-Cécile, Fischbach, Michel
Veröffentlicht 2010

Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress

von Kristensen, Ulrik, Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Laugel, Vincent, Stevnsner, Tinna, Bohr, Vilhelm A., Coin, Frédéric, Egly, Jean-Marc
Veröffentlicht 2013

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

von Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Costanzo, Federico, Calmels, Nadege, Obringer, Cathy, Sarasin, Alain, Coin, Frederic, Laugel, Vincent, Egly, Jean-Marc
Veröffentlicht in Sci Rep (2020)

A possible cranio-oro-facial phenotype in Cockayne syndrome

von Bloch-Zupan, Agnès, Rousseaux, Morgan, Laugel, Virginie, Schmittbuhl, Matthieu, Mathis, Rémy, Desforges, Emmanuelle, Koob, Mériam, Zaloszyc, Ariane, Dollfus, Hélène, Laugel, Vincent
Veröffentlicht 2013

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

von Cowling, Belinda S., Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B., Laporte, Jocelyn
Veröffentlicht 2014

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy

von de Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge
Veröffentlicht in Ann Neurol (2020)

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

von Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Veröffentlicht in Mol Syndromol (2014)

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

von Nardo, Tiziana, Oneda, Roberta, Spivak, Graciela, Vaz, Bruno, Mortier, Laurent, Thomas, Pierre, Orioli, Donata, Laugel, Vincent, Stary, Anne, Hanawalt, Philip C., Sarasin, Alain, Stefanini, Miria
Veröffentlicht 2009

Next generation sequencing for molecular diagnosis of neuromuscular diseases

von Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn
Veröffentlicht 2012

Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

von Hafner, Patricia, Bonati, Ulrike, Klein, Andrea, Rubino, Daniela, Gocheva, Vanya, Schmidt, Simone, Schroeder, Jonas, Bernert, Günther, Laugel, Vincent, Steinlin, Maja, Capone, Andrea, Gloor, Monika, Bieri, Oliver, Hemkens, Lars G., Speich, Benjamin, Zumbrunn, Thomas, Gueven, Nuri, Fischer, Dirk
Veröffentlicht in JAMA Netw Open (2019)

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

von Servais, Laurent, Montus, Marie, Guiner, Caroline Le, Ben Yaou, Rabah, Annoussamy, Mélanie, Moraux, Amélie, Hogrel, Jean-Yves, Seferian, Andreea M., Zehrouni, Karima, Le Moing, Anne-Gaëlle, Gidaro, Teresa, Vanhulle, Catherine, Laugel, Vincent, Butoianu, Nina, Cuisset, Jean-Marie, Sabouraud, Pascal, Cances, Claude, Klein, Andrea, Leturcq, France, Moullier, Philippe, Voit, Thomas
Veröffentlicht in J Neuromuscul Dis (2015)

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

von Annoussamy, Mélanie, Seferian, Andreea M., Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐Le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent
Veröffentlicht in Ann Clin Transl Neurol (2020)

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

von Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Veröffentlicht in PLoS One (2018)

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

von Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Veröffentlicht in Genet Med (2019)

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

von Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle
Veröffentlicht in Front Pediatr (2020)