Increasing Role of Titin Mutations in Neuromuscular Disorders
Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Published in Journal of neuromuscular diseases (30.08.2016)
Published in Journal of neuromuscular diseases (30.08.2016)
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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
SARPARANTA, Jaakko, HARALD JONSON, Per, RAHEEM, Olayinka, PENTTILÄ, Sini, LEHTINEN, Sara, HUOVINEN, Sanna, PALMIO, Johanna, TASCA, Giorgio, RICCI, Enzo, HACKMAN, Peter, HAUSER, Michael, KATSANIS, Nicholas, GOLZIO, Christelle, UDD, Bjarne, SANDELL, Satu, LUQUE, Helena, SCREEN, Mark, MCDONALD, Kristin, STAJICH, Jeffrey M, MAHINEH, Ibrahim, VIHOLA, Anna
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Augé, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Véronique
Published in Neurobiology of disease (01.11.2018)
Published in Neurobiology of disease (01.11.2018)
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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
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
Published in Annals of neurology (01.04.2013)
Published in Annals of neurology (01.04.2013)
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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations
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
Published in Annals of neurology (01.06.2019)
Published in Annals of neurology (01.06.2019)
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Mutations in the J domain of DNAJB6 cause dominant distal myopathy
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
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene
Kiiski, Kirsi J., Lehtokari, Vilma-Lotta, Vihola, Anna K., Laitila, Jenni M., Huovinen, Sanna, Sagath, Lydia J., Evilä, Anni E., Paetau, Anders E., Sewry, Caroline A., Hackman, Peter B., Pelin, Katarina B., Wallgren-Pettersson, Carina, Udd, Bjarne
Published in Neuromuscular disorders : NMD (01.02.2019)
Published in Neuromuscular disorders : NMD (01.02.2019)
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Atypical phenotypes in titinopathies explained by second titin mutations
Evilä, Anni, Vihola, Anna, Sarparanta, Jaakko, Raheem, Olayinka, Palmio, Johanna, Sandell, Satu, Eymard, Bruno, Illa, Isabel, Rojas-Garcia, Ricard, Hankiewicz, Karolina, Negrão, Luis, Löppönen, Tuija, Nokelainen, Pekka, Kärppä, Mikko, Penttilä, Sini, Screen, Mark, Suominen, Tiina, Richard, Isabelle, Hackman, Peter, Udd, Bjarne
Published in Annals of neurology (01.02.2014)
Published in Annals of neurology (01.02.2014)
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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
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
Published in Molecular neurobiology (01.11.2017)
Published in Molecular neurobiology (01.11.2017)
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CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy
Charton, Karine, Sarparanta, Jaakko, Vihola, Anna, Milic, Astrid, Jonson, Per Harald, Suel, Laurence, Luque, Helena, Boumela, Imène, Richard, Isabelle, Udd, Bjarne
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover
Lange, Stephan, Xiang, Fengqing, Yakovenko, Andrey, Vihola, Anna, Hackman, Peter, Rostkova, Elena, Kristensen, Jakob, Brandmeier, Birgit, Franzen, Gereon, Hedberg, Birgitta, Gunnarsson, Lars Gunnar, Hughes, Simon M, Marchand, Sylvie, Sejersen, Thomas, Richard, Isabelle, Edström, Lars, Ehler, Elisabeth, Udd, Bjarne, Gautel, Mathias
Published in Science (American Association for the Advancement of Science) (10.06.2005)
Published in Science (American Association for the Advancement of Science) (10.06.2005)
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Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
Hackman, Peter, Vihola, Anna, Haravuori, Henna, Marchand, Sylvie, Sarparanta, Jaakko, de Seze, Jerome, Labeit, Siegfried, Witt, Christian, Peltonen, Leena, Richard, Isabelle, Udd, Bjarne
Published in American journal of human genetics (01.09.2002)
Published in American journal of human genetics (01.09.2002)
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Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies
Charton, Karine, Danièle, Nathalie, Vihola, Anna, Roudaut, Carinne, Gicquel, Evelyne, Monjaret, François, Tarrade, Anne, Sarparanta, Jaakko, Udd, Bjarne, Richard, Isabelle
Published in Human molecular genetics (01.12.2010)
Published in Human molecular genetics (01.12.2010)
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Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
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
Published in Neuromuscular disorders : NMD (01.12.2008)
Published in Neuromuscular disorders : NMD (01.12.2008)
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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2
Vihola, Anna, Bachinski, Linda L., Sirito, Mario, Olufemi, Shodimu-Emmanuel, Hajibashi, Shohrae, Baggerly, Keith A., Raheem, Olayinka, Haapasalo, Hannu, Suominen, Tiina, Holmlund-Hampf, Jeanette, Paetau, Anders, Cardani, Rosanna, Meola, Giovanni, Kalimo, Hannu, Edström, Lars, Krahe, Ralf, Udd, Bjarne
Published in Acta neuropathologica (01.04.2010)
Published in Acta neuropathologica (01.04.2010)
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Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
Fattori, Fabiana, Maggi, Lorenzo, Bruno, Claudio, Cassandrini, Denise, Codemo, Valentina, Catteruccia, Michela, Tasca, Giorgio, Berardinelli, Angela, Magri, Francesca, Pane, Marika, Rubegni, Anna, Santoro, Lucio, Ruggiero, Lucia, Fiorini, Patrizio, Pini, Antonella, Mongini, Tiziana, Messina, Sonia, Brisca, Giacomo, Colombo, Irene, Astrea, Guja, Fiorillo, Chiara, Bragato, Cinzia, Moroni, Isabella, Pegoraro, Elena, D’Apice, Maria Rosaria, Alfei, Enrico, Mora, Marina, Morandi, Lucia, Donati, Alice, Evilä, Anni, Vihola, Anna, Udd, Bjarne, Bernansconi, Pia, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico, D’Amico, Adele
Published in Journal of neurology (10.05.2015)
Published in Journal of neurology (10.05.2015)
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Extension of the DNAJB2a isoform in a dominant neuromyopathy family
Sarparanta, Jaakko, Jonson, Per Harald, Reimann, Jens, Vihola, Anna, Luque, Helena, Penttilä, Sini, Johari, Mridul, Savarese, Marco, Hackman, Peter, Kornblum, Cornelia, Udd, Bjarne
Published in Human molecular genetics (17.10.2023)
Published in Human molecular genetics (17.10.2023)
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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Johari, Mridul, Vihola, Anna, Palmio, Johanna, Jokela, Manu, Jonson, Per Harald, Sarparanta, Jaakko, Huovinen, Sanna, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Published in Journal of neurology (01.08.2022)
Published in Journal of neurology (01.08.2022)
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Journal Article
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band - implications for hereditary myopathies
Fukuzawa, Atsushi, Lange, Stephan, Holt, Mark, Vihola, Anna, Carmignac, Virginie, Ferreiro, Ana, Udd, Bjarne, Gautel, Mathias
Published in Journal of cell science (01.06.2008)
Published in Journal of cell science (01.06.2008)
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