Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy von Sarparanta, Jaakko, Jonson, Per Harald, Golzio, Christelle, Sandell, Satu, Luque, Helena, Screen, Mark, McDonald, Kristin, Stajich, Jeffrey M, Mahjneh, Ibrahim, Vihola, Anna, Raheem, Olayinka, Penttilä, Sini, Lehtinen, Sara, Huovinen, Sanna, Palmio, Johanna, Tasca, Giorgio, Ricci, Enzo, Hackman, Peter, Hauser, Michael, Katsanis, Nicholas, Udd, Bjarne

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results von Sarparanta, Jaakko, Jonson, Per Harald, Kawan, Sabita, Udd, Bjarne

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Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy von Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L, Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G, Sue, Carolyn M, Udd, Bjarne

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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1 von Hackman, Peter, Sarparanta, Jaakko, Lehtinen, Sara, Vihola, Anna, Evilä, Anni, Jonson, Per Harald, Luque, Helena, Kere, Juha, Screen, Mark, Chinnery, Patrick F., Åhlberg, Gabrielle, Edström, Lars, Udd, Bjarne

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations von Savarese, Marco, Palmio, Johanna, Poza, Juan José, Weinberg, Jan, Olive, Montse, Cobo, Ana Maria, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, García‐Bragado, Federico, Urtizberea, Jon Andoni, Hackman, Peter, Udd, Bjarne

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The complexity of titin splicing pattern in human adult skeletal muscles von Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter

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An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy von Jokela, Manu, Tasca, Giorgio, Vihola, Anna, Mercuri, Eugenio, Jonson, Per-Harald, Lehtinen, Sara, Välipakka, Salla, Pane, Marika, Donati, Maria, Johari, Mridul, Savarese, Marco, Huovinen, Sanna, Isohanni, Pirjo, Palmio, Johanna, Hartikainen, Päivi, Udd, Bjarne

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Mutations in the J domain of DNAJB6 cause dominant distal myopathy von Palmio, Johanna, Jonson, Per Harald, Inoue, Michio, Sarparanta, Jaakko, Bengoechea, Rocio, Savarese, Marco, Vihola, Anna, Jokela, Manu, Nakagawa, Masanori, Noguchi, Satoru, Olivé, Montse, Masingue, Marion, Kerty, Emilia, Hackman, Peter, Weihl, Conrad C., Nishino, Ichizo, Udd, Bjarne

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CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy von Charton, Karine, Sarparanta, Jaakko, Vihola, Anna, Milic, Astrid, Jonson, Per Harald, Suel, Laurence, Luque, Helena, Boumela, Imène, Richard, Isabelle, Udd, Bjarne

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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy von Evilä, Anni, Palmio, Johanna, Vihola, Anna, Savarese, Marco, Tasca, Giorgio, Penttilä, Sini, Lehtinen, Sara, Jonson, Per Harald, De Bleecker, Jan, Rainer, Peter, Auer-Grumbach, Michaela, Pouget, Jean, Salort-Campana, Emmanuelle, Vilchez, Juan J., Muelas, Nuria, Olive, Montse, Hackman, Peter, Udd, Bjarne

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Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy von Screen, Mark, Raheem, Olayinka, Holmlund-Hampf, Jeanette, Jonson, Per Harald, Huovinen, Sanna, Hackman, Peter, Udd, Bjarne

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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions von Zhong, Huahua, Sian, Veronica, Johari, Mridul, Katayama, Shintaro, Oghabian, Ali, Jonson, Per Harald, Hackman, Peter, Savarese, Marco, Udd, Bjarne

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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation von Ranta‐aho, Johanna, Felice, Kevin J., Jonson, Per Harald, Sarparanta, Jaakko, Yvorel, Cédric, Harzallah, Ines, Touraine, Renaud, Pais, Lynn, Austin‐Tse, Christina A., Ganesh, Vijay S., O'Leary, Melanie C., Rehm, Heidi L., Hehir, Michael K., Subramony, Sub, Wu, Qian, Udd, Bjarne, Savarese, Marco

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234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017 von Weihl, Conrad C., Udd, Bjarne, Hanna, Michael, Ben-Zvi, Anat, Blaettler, Thomas, Bryson-Richardson, Robert, Carra, Serena, Dimachkie, Mazen, Findlay, Andrew, Greensmith, Linda, Greenspan, Stephen, Hanna, Michael, Höhfled, Jörg, Jonson, Per Harald, Kampinga, Harm, Larsson, Lars, Linke, Wolfgang, Lynch, Gonrdon, Machado, Pedro, Orlando, Lianna, Richard, Isabelle, Roos, Andreas, Sarparanta, Jaakko, Timmerman, Vincent, Udd, Bjarne, Weihl, Conrad, Zah, Laura

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Amino acid neighbours and detailed conformational analysis of cysteines in proteins von Petersen, Maria Teresa Neves, Jonson, Per Harald, Petersen, Steffen B.

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Extension of the DNAJB2a isoform in a dominant neuromyopathy family von Sarparanta, Jaakko, Jonson, Per Harald, Reimann, Jens, Vihola, Anna, Luque, Helena, Penttilä, Sini, Johari, Mridul, Savarese, Marco, Hackman, Peter, Kornblum, Cornelia, Udd, Bjarne

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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis von Johari, Mridul, Vihola, Anna, Palmio, Johanna, Jokela, Manu, Jonson, Per Harald, Sarparanta, Jaakko, Huovinen, Sanna, Savarese, Marco, Hackman, Peter, Udd, Bjarne

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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations von Lee, YouJin, Jonson, Per Harald, Sarparanta, Jaakko, Palmio, Johanna, Sarkar, Mohona, Vihola, Anna, Evilä, Anni, Suominen, Tiina, Penttilä, Sini, Savarese, Marco, Johari, Mridul, Minot, Marie-Christine, Hilton-Jones, David, Maddison, Paul, Chinnery, Patrick, Reimann, Jens, Kornblum, Cornelia, Kraya, Torsten, Zierz, Stephan, Sue, Carolyn, Goebel, Hans, Azfer, Asim, Ralston, Stuart H, Hackman, Peter, Bucelli, Robert C, Taylor, J Paul, Weihl, Conrad C, Udd, Bjarne

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders von Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo

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A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family von Claeys, Kristl G, Savarese, Marco, Jonson, Per Harald, Goosens, Veerle, Topf, Ana, Vihola, Anna, Straub, Volker, Udd, Bjarne

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