Ohcanbohtosat - Laugel, Vincent

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype Dahkki Vasli, Nasim, Laugel, Vincent, Böhm, Johann, Lannes, Béatrice, Biancalana, Valérie, Laporte, Jocelyn

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Do French Consumers Have the Same Social Representations of Pulses as Food Industry Professionals? Dahkki Melendrez-Ruiz, Juliana, Arvisenet, Gaëlle, Laugel, Vincent, Chambaron, Stéphanie, Monnery-Patris, Sandrine

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Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B Dahkki Damaj-Fourcade, Rayanne, Meyer, Nicolas, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, Laugel, Vincent

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Cockayne syndrome: a diffusion tensor imaging and volumetric study Dahkki Koob, Mériam, Rousseau, François, Laugel, Vincent, Meyer, Nicolas, Armspach, Jean-Paul, Girard, Nadine, Dietemann, Jean-Louis

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome Dahkki Schalk, Audrey, Greff, Géraldine, Drouot, Nathalie, Obringer, Cathy, Dollfus, Hélène, Laugel, Vincent, Chelly, Jamel, Calmels, Nadège

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The onset of acute oxcarbazepine toxicity related to prescription of clarithromycin in a child with refractory epilepsy Dahkki Santucci, Raoul, Fothergill, Helen, Laugel, Vincent, Perville, Anne, De Saint Martin, Anne, Gerout, Anne-Cécile, Fischbach, Michel

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The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice Dahkki Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis

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Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress Dahkki Kristensen, Ulrik, Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Laugel, Vincent, Stevnsner, Tinna, Bohr, Vilhelm A., Coin, Frédéric, Egly, Jean-Marc

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Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome Dahkki Epanchintsev, Alexey, Rauschendorf, Marc-Alexander, Costanzo, Federico, Calmels, Nadege, Obringer, Cathy, Sarasin, Alain, Coin, Frederic, Laugel, Vincent, Egly, Jean-Marc

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A possible cranio-oro-facial phenotype in Cockayne syndrome Dahkki Bloch-Zupan, Agnès, Rousseaux, Morgan, Laugel, Virginie, Schmittbuhl, Matthieu, Mathis, Rémy, Desforges, Emmanuelle, Koob, Mériam, Zaloszyc, Ariane, Dollfus, Hélène, Laugel, Vincent

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Reducing dynamin 2 expression rescues X-linked centronuclear myopathy Dahkki Cowling, Belinda S., Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B., Laporte, Jocelyn

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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy Dahkki de Feraudy, Yvan, Ben Yaou, Rabah, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Servais, Laurent, Leturcq, France, Amthor, Helge

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A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome Dahkki Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Stoetzel, Corinne, Muller, Jean, Flori, Elisabeth, Laugel, Vincent, Manière, Marie-Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès

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

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations Dahkki Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B Dahkki Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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Next generation sequencing for molecular diagnosis of neuromuscular diseases Dahkki 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

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

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

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

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