Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 von Böhm, Johann, Chevessier, Frédéric, Koch, Catherine, Peche, G Arielle, Mora, Marina, Morandi, Lucia, Pasanisi, Barbara, Moroni, Isabella, Tasca, Giorgio, Fattori, Fabiana, Ricci, Enzo, Pénisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Fardeau, Michel, Joshi, Pushpa Raj, Deschauer, Marcus, Romero, Norma Beatriz, Eymard, Bruno, Laporte, Jocelyn

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Early onset collagen VI myopathies: Genetic and clinical correlations von Briñas, Laura, Richard, Pascale, Quijano-Roy, Susana, Gartioux, Corine, Ledeuil, Céline, Lacène, Emmanuelle, Makri, Samira, Ferreiro, Ana, Maugenre, Svetlana, Topaloglu, Haluk, Haliloglu, Göknur, Pénisson-Besnier, Isabelle, Jeannet, Pierre-Yves, Merlini, Luciano, Navarro, Carmen, Toutain, Annick, Chaigne, Denys, Desguerre, Isabelle, de Die-Smulders, Christine, Dunand, Murielle, Echenne, Bernard, Eymard, Bruno, Kuntzer, Thierry, Maincent, Kim, Mayer, Michèle, Plessis, Ghislaine, Rivier, François, Roelens, Filip, Stojkovic, Tanya, Lía Taratuto, Ana, Lubieniecki, Fabiana, Monges, Soledad, Tranchant, Christine, Viollet, Louis, Romero, Norma B., Estournet, Brigitte, Guicheney, Pascale, Allamand, Valérie

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Disrupted myosin cross‐bridge cycling kinetics triggers muscle weakness in nebulin‐related myopathy von Ochala, Julien, Lehtokari, Vilma‐Lotta, Iwamoto, Hiroyuki, Li, Meishan, Feng, Han‐Zhong, Jin, Jian‐Ping, Yagi, Naoto, Wallgren‐Pettersson, Carina, Pénisson‐Besnier, Isabelle, Larsson, Lars

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age von Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle

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Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation von GENTIL, Christel, LETURCQ, France, BEN YAOU, Rabah, KAPLAN, Jean-Claude, LAFORET, Pascal, PENISSON-BESNIER, Isabelle, ESPIL-TARIS, Caroline, VOIT, Thomas, GARCIA, Luis, PIETRI-ROUXE, France

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Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms von OCHALA, Julien, GOKHIN, David S, PENISSON-BESNIER, Isabelle, QUIJANO-ROY, Susana, MONNIER, Nicole, LUNARDI, Joël, ROMERO, Norma B, FOWLER, Velia M

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Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD) von Hackman, Peter, Marchand, Sylvie, Sarparanta, Jaakko, Vihola, Anna, Pénisson-Besnier, Isabelle, Eymard, Bruno, Pardal-Fernández, Jose Manuel, Hammouda, El-Hadi, Richard, Isabelle, Illa, Isabel, Udd, Bjarne

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Compound heterozygous mutations of the TNXB gene cause primary myopathy von Pénisson-Besnier, Isabelle, Allamand, Valérie, Beurrier, Philippe, Martin, Ludovic, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne, Gartioux, Corine, Malfait, Fransiska, Syx, Delfien, Macchi, Laurent, Marcorelles, Pascale, Arbeille, Brigitte, Croué, Anne, De Paepe, Anne, Dubas, Frédéric

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ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation von Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C., Krause, Sabine, van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A., Brierley, Charlotte, Cooper, Robert G., Cottrell, David A., Davies, Nick P., Gibson, Andrew, Gorman, Gráinne S., Hammans, Simon, Jackson, Andrew P., Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J., Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H., Swingler, Robert, Turner, Chris, Wagner, Kathryn R., Maddison, Paul, Shaw, Pamela J., Straub, Volker, Bushby, Kate, Lochmüller, Hanns

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Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing von Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, Peyroulan, Delphine, Ben Yaou, Raba, Nelson, Isabelle, Cobo, Anna Maria, Arné-Bes, Marie-Christine, Uro-Coste, Emmanuelle, Nitschke, Patrick, Claustres, Mireille, Bonne, Gisèle, Lévy, Nicolas, Chelly, Jamel, Richard, Isabelle, Cossée, Mireille

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A myopathy-related actin mutation increases contractile function von Lindqvist, Johan, Pénisson-Besnier, Isabelle, Iwamoto, Hiroyuki, Li, Meishan, Yagi, Naoto, Ochala, Julien

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Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia von Stojkovic, Tanya, Hammouda, El Hadi, Richard, Pascale, López de Munain, Adolfo, Ruiz-Martinez, Javier, Camaño Gonzalez, Pilar, Laforêt, Pascal, Pénisson-Besnier, Isabelle, Ferrer, Xavier, Lacour, Arnaud, Lacomblez, Lucette, Claeys, Kristl G, Maurage, Claude-Alain, Fardeau, Michel, Eymard, Bruno

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Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis von Pénisson-Besnier, Isabelle, Saint-André, Jean-Paul, Hicks, Debbie, Sarkozy, Anna, Croué, Anne, Hudson, Judith, Lochmüller, Hanns, Dubas, Frédéric

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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study von Pénisson-Besnier, Isabelle, Monnier, Nicole, Toutain, Annick, Dubas, Frédéric, Laing, Nigel

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Myotilinopathy in a family with late onset myopathy von Pénisson-Besnier, Isabelle, Talvinen, Kati, Dumez, Catherine, Vihola, Anna, Dubas, Frédéric, Fardeau, Michel, Hackman, Peter, Carpen, Olli, Udd, Bjarne

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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age von Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, De Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-besnier, Isabelle, Romero, Norma, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle

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Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing von Gaudon, Karen, Pénisson-Besnier, Isabelle, Chabrol, Brigitte, Bouhour, Françoise, Demay, Laurence, Ben Ammar, Asma, Bauché, Stéphanie, Vial, Christophe, Nicolas, Guillaume, Eymard, Bruno, Hantaï, Daniel, Richard, Pascale

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Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome von Pénisson‐Besnier, Isabelle, Lebouvier, Thibaud, Moizard, Marie‐Pierre, Ferré, Marc, Barth, Magalie, Marc, Guillaume, Raynaud, Martine, Bonneau, Dominique

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Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study von Pénisson-Besnier, Isabelle, Biancalana, Valérie, Reynier, Pascal, Cossée, Mireille, Dubas, Frédéric

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A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy von Vezain, Myriam, Saugier-Veber, Pascale, Melki, Judith, Toutain, Annick, Bieth, Eric, Husson, Marie, Pedespan, Jean-Michel, Viollet, Louis, Pénisson-Besnier, Isabelle, Fehrenbach, Séverine, Bou, Jacqueline, Frébourg, Thierry, Tosi, Mario

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