Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results
Sarparanta, Jaakko, Jonson, Per Harald, Kawan, Sabita, Udd, Bjarne
Published in International journal of molecular sciences (19.02.2020)
Published in International journal of molecular sciences (19.02.2020)
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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Published in Neuromuscular disorders : NMD (01.08.2018)
Published in Neuromuscular disorders : NMD (01.08.2018)
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Conference Proceeding
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10
Penttilä, Sini, Jokela, Manu, Bouquin, Heidi, Saukkonen, Anna Maija, Toivanen, Jari, Udd, Bjarne
Published in Annals of neurology (01.01.2015)
Published in Annals of neurology (01.01.2015)
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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, 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
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Sellier, Chantal, Cerro-Herreros, Estefanía, Blatter, Markus, Freyermuth, Fernande, Gaucherot, Angeline, Ruffenach, Frank, Sarkar, Partha, Puymirat, Jack, Udd, Bjarne, Day, John W., Meola, Giovanni, Bassez, Guillaume, Fujimura, Harutoshi, Takahashi, Masanori P., Schoser, Benedikt, Furling, Denis, Artero, Ruben, Allain, Frédéric H. T., Llamusi, Beatriz, Charlet-Berguerand, Nicolas
Published in Nature communications (22.05.2018)
Published in Nature communications (22.05.2018)
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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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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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The complexity of titin splicing pattern in human adult skeletal muscles
Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
Published in Skeletal muscle (29.03.2018)
Published in Skeletal muscle (29.03.2018)
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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Lehtonen, Johanna, Sulonen, Anna-Maija, Almusa, Henrikki, Lehtokari, Vilma-Lotta, Johari, Mridul, Palva, Aino, Hakonen, Anna H., Wartiovaara, Kirmo, Lehesjoki, Anna-Elina, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Savarese, Marco, Saarela, Janna
Published in Scientific reports (21.02.2024)
Published in Scientific reports (21.02.2024)
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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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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders
Jokela, Manu, Huovinen, Sanna, Raheem, Olayinka, Lindfors, Mikaela, Palmio, Johanna, Penttilä, Sini, Udd, Bjarne
Published in PloS one (21.03.2016)
Published in PloS one (21.03.2016)
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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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Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy
Rouillon, Jeremy, Zocevic, Aleksandar, Leger, Thibaut, Garcia, Camille, Camadro, Jean-Michel, Udd, Bjarne, Wong, Brenda, Servais, Laurent, Voit, Thomas, Svinartchouk, Fedor
Published in Neuromuscular disorders : NMD (01.07.2014)
Published in Neuromuscular disorders : NMD (01.07.2014)
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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy
Waldrop, Megan A., Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Medne, Livja, Finkel, Richard, Connolly, Anne M., Crawford, Thomas O., Drachman, Daniel, Wein, Nicolas, Habib, Ali A., Krzesniak‐Swinarska, Monika A., Zaidman, Craig M., Collins, James J., Jokela, Manu, Udd, Bjarne, Day, John W., Ortiz‐Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J., Dunn, Diane M., Weiss, Robert B., Flanigan, Kevin M.
Published in Human mutation (01.04.2022)
Published in Human mutation (01.04.2022)
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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
SUOMINEN, Tiina, BACHINSKI, Linda L, AUVINEN, Satu, HACKMAN, Peter, BAGGERLY, Keith A, ANGELINI, Corrado, PELTONEN, Leena, KRAHE, Ralf, UDD, Bjarne
Published in European journal of human genetics : EJHG (01.07.2011)
Published in European journal of human genetics : EJHG (01.07.2011)
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Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies
Rouillon, Jérémy, Poupiot, Jérôme, Zocevic, Aleksandar, Amor, Fatima, Léger, Thibaut, Garcia, Camille, Camadro, Jean-Michel, Wong, Brenda, Pinilla, Robin, Cosette, Jérémie, Coenen-Stass, Anna M L, Mcclorey, Graham, Roberts, Thomas C, Wood, Matthew J A, Servais, Laurent, Udd, Bjarne, Voit, Thomas, Richard, Isabelle, Svinartchouk, Fedor
Published in Human molecular genetics (01.09.2015)
Published in Human molecular genetics (01.09.2015)
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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Rossi, Daniela, Palmio, Johanna, Evilä, Anni, Galli, Lucia, Barone, Virginia, Caldwell, Tracy A, Policke, Rachel A, Aldkheil, Esraa, Berndsen, Christopher E, Wright, Nathan T, Malfatti, Edoardo, Brochier, Guy, Pierantozzi, Enrico, Jordanova, Albena, Guergueltcheva, Velina, Romero, Norma Beatriz, Hackman, Peter, Eymard, Bruno, Udd, Bjarne, Sorrentino, Vincenzo
Published in PloS one (26.10.2017)
Published in PloS one (26.10.2017)
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