De novo LMNA mutations cause a new form of congenital muscular dystrophy by Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte

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Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain by Vernengo, Luis, Chourbagi, Oussama, Panuncio, Ana, Lilienbaum, Alain, Batonnet-Pichon, Sabrina, Bruston, Francine, Rodrigues-Lima, Fernando, Mesa, Rosario, Pizzarossa, Carlos, Demay, Laurence, Richard, Pascale, Vicart, Patrick, Rodriguez, Maria-Mirta

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Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene by Sabatelli, Patrizia, Castagnaro, Silvia, Tagliavini, Francesca, Chrisam, Martina, Sardone, Francesca, Demay, Laurence, Richard, Pascale, Santi, Spartaco, Maraldi, Nadir M, Merlini, Luciano, Sandri, Marco, Bonaldo, Paolo

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Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy by Makri, Samira, Clarke, Nigel F, Richard, Pascale, Maugenre, Svetlana, Demay, Laurence, Bonne, Gisèle, Guicheney, Pascale

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Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene by Sabatelli, Patrizia, Castagnaro, Silvia, Tagliavini, Francesca, Chrisam, Martina, Sardone, Francesca, Demay, Laurence, Richard, Pascale, Santi, Spartaco, Maraldi, Nadir M., Merlini, Luciano, Sandri, Marco, Bonaldo, Paolo

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Genomic Organization of the KCNQ1 K+ Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome by Neyroud, Nathalie, Richard, Pascale, Vignier, Nicolas, Donger, Claire, Denjoy, Isabelle, Demay, Laurence, Shkolnikova, Maria, Pesce, Ricardo, Chevalier, Philippe, Hainque, Bernard, Coumel, Philippe, Schwartz, Ketty, Guicheney, Pascale

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C-terminal HERG mutations : The role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence by BERTHET, M, DENJOY, I, COUMEL, P, HAINQUE, B, GUICHENEY, P, DONGER, C, DEMAY, L, HAMMOUDE, H, KLUG, D, SCHULZE-BAHR, E, RICHARD, P, FUNKE, H, SCHWARTZ, K

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Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy by Vytopil, Michal, Ricci, Enzo, Dello Russo, Antonio, Hanisch, Frank, Neudecker, Stephan, Zierz, Stephan, Ricotti, Roberta, Demay, Laurence, Richard, Pascale, Wehnert, Manfred, Bonne, Gisèle, Merlini, Luciano, Toniolo, Daniela

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11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlatio... by Netchine, Irène, Rossignol, Sylvie, Dufourg, Marie-Noëlle, Azzi, Salah, Rousseau, Alexandra, Perin, Laurence, Houang, Muriel, Steunou, Virginie, Esteva, Blandine, Thibaud, Nathalie, Raux Demay, Marie-Charles, Danton, Fabienne, Petriczko, Elzbieta, Bertrand, Anne-Marie, Heinrichs, Claudine, Carel, Jean-Claude, Loeuille, Guy-André, Pinto, Graziella, Jacquemont, Marie-Line, Gicquel, Christine, Cabrol, Sylvie, Le Bouc, Yves

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Nanoparticles under the Light: Click Functionalization by Photochemical Thiol-yne Reaction, Towards Double Click Functionalization by Demay-Drouhard, Paul, Nehlig, Emilie, Hardouin, Julie, Motte, Laurence, Guénin, Erwann

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Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood by Bachelot, Anne, Vialon, Magaly, Baptiste, Amandine, Tejedor, Isabelle, Elie, Caroline, Polak, Michel, Touraine, Philippe

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Deoxyribonucleic Acid Methyl Transferases 3a and 3b Associate with the Nuclear Orphan Receptor COUP-TFI during Gene Activation by Gallais, Rozenn, Demay, Florence, Barath, Peter, Finot, Laurence, Jurkowska, Renata, Le Guével, Rémy, Gay, Frédérique, Jeltsch, Albert, Métivier, Raphaël, Salbert, Gilles

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