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SaveShare Save Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy
Melhedegaard, Elise Gerlach; Rostedt, Fanny; Gineste, Charlotte; Seaborne, Robert A. E.; Dugdale, Hannah F.; Belhac, Vladimir; Zanoteli, Edmar; Lawlor, Michael W.; Mack, David L.; Wallgren-Pettersson, Carina; Hessel, Anthony L.; Jungbluth, Heinz; Laporte, Jocelyn; Saito, Yoshihiko; Nishino, Ichizo; Ochala, Julien; Laitila, Jenni Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Share Save Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing eraBui, Mai Thao; Fernandez-Eulate, Gorka; Evangelista, Teresinha; Lacene, Emmanuelle; Brochier, Guy; Labasse, Clemence; Madelaine, Angeline; Chanut, Anais; Beuvin, Maud; Borsato-Levy, Favienne; Biancalana, Valerie; Barcia, Giulia; De Lonlay, Pascale; Laporte, Jocelyn; Boehm, Johann; Romero, Norma Beatriz Share Save Share Save Share Save Share Save BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formationPicas, Laura; Andre-Arpin, Charlotte; Comunale, Franck; Bousquet, Hugo; Tsai, Feng-Ching; Rico, Felix; Maiuri, Paolo; Pernier, Julien; Bodin, Stephane; Nicot, Anne-Sophie; Laporte, Jocelyn; Bassereau, Patricia; Goud, Bruno; Gauthier-Rouviere, Cecile; Miserey, Stephanie Share Save IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTaMeyer, Corentin; Romero, Norma Beatriz; Evangelista, Teresinha; Cadot, Brunot; Laporte, Jocelyn; Jeannin-Girardon, Anne; Collet, Pierre; Ayadi, Ali; Chennen, Kirsley; Poch, Olivier Share Save ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSilva-Rojas, Roberto; Perez-Guardia, Laura; Simon, Alix; Djeddi, Sarah; Treves, Susan; Ribes, Agnes; Silva-Hernandez, Lorenzo; Tard, Celine; Laporte, Jocelyn; Bohm, Johann Share Save Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyToepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker Share Save Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylationvanden Brande, Laura; Bauche, Stephanie; Perez-Guardia, Laura; Sternberg, Damien; Seferian, Andreea M.; Malfatti, Edoardo; Silva-Rojas, Roberto; Labasse, Clemence; Chevessier, Frederic; Carlier, Pierre; Eymard, Bruno; Romero, Norma B.; Laporte, Jocelyn; Servais, Laurent; Gidaro, Teresa; Bohm, Johann Share Save 
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