Works matching AU Udd, Bjarne

Results: 93
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    Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

    Published in:
    Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4
    By:
    • 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
    Publication type:
    Article
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    Atypical phenotypes in titinopathies explained by second titin mutations.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102
    By:
    • 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
    Publication type:
    Article
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    Mutation update for the ACTN2 gene.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
    By:
    • Ranta‐aho, Johanna;
    • Olive, Montse;
    • Vandroux, Marie;
    • Roticiani, Giorgia;
    • Dominguez, Cristina;
    • Johari, Mridul;
    • Torella, Annalaura;
    • Böhm, Johann;
    • Turon, Janina;
    • Nigro, Vincenzo;
    • Hackman, Peter;
    • Laporte, Jocelyn;
    • Udd, Bjarne;
    • Savarese, Marco
    Publication type:
    Article
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    Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
    By:
    • 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.
    Publication type:
    Article
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    Lamin A/C mutation affecting primarily the right side of the heart.

    Published in:
    Cardiogenetics, 2013, v. 3, n. 1, p. 1, doi. 10.4081/cardiogenetics.2013.e1
    By:
    • Ollila, Laura;
    • Kuusisto, Johanna;
    • Peuhkurinen, Keijo;
    • Kärkkäinen, Satu;
    • Tuomainen, Petri;
    • Kaartinen, Maija;
    • Raheem, Olayinka;
    • Udd, Bjarne;
    • Magga, Jarkko;
    • Rapola, Janne;
    • Lahtinen, Annukka M.;
    • Lehtonen, Eero;
    • Holmström, Miia;
    • Kivistö, Sari;
    • Widén, Elisabeth;
    • Saksa, Markku;
    • Heliö, Tiina
    Publication type:
    Article
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    rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04370-x
    By:
    • 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;
    • Harutoshi Fujimura;
    • Takahashi, Masanori P.;
    • Schoser, Benedikt;
    • Furling, Denis;
    • Artero, Ruben;
    • Allain, Frédéric H.T.;
    • Llamusi, Beatriz;
    • Charlet-Berguerand, Nicolas
    Publication type:
    Article
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    Tibial muscular dystrophy in a Belgian family.

    Published in:
    Annals of Neurology, 2003, v. 54, n. 2, p. 248
    By:
    • Peter Y. K. Van den Bergh;
    • Olivier Bouquiaux;
    • Christine Verellen;
    • Sylvie Marchand;
    • Isabelle Richard;
    • P. Hackman;
    • Bjarne Udd
    Publication type:
    Article
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    Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 21, p. 3029, doi. 10.1093/hmg/ddad058
    By:
    • Sarparanta, Jaakko;
    • Jonson, Per Harald;
    • Reimann, Jens;
    • Vihola, Anna;
    • Luque, Helena;
    • Penttilä, Sini;
    • Johari, Mridul;
    • Savarese, Marco;
    • Hackman, Peter;
    • Kornblum, Cornelia;
    • Udd, Bjarne
    Publication type:
    Article
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    CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 706, doi. 10.1093/hmg/ddx436
    By:
    • Brockmann, Sarah J.;
    • Freischmidt, Axel;
    • Oeckl, Patrick;
    • Müller, Kathrin;
    • Ponna, Srinivas K.;
    • Helferich, Anika M.;
    • Paone, Christoph;
    • Reinders, Jörg;
    • Kojer, Kerstin;
    • Orth, Michael;
    • Jokela, Manu;
    • Auranen, Mari;
    • Udd, Bjarne;
    • Hermann, Andreas;
    • Danzer, Karin M.;
    • Lichtner, Peter;
    • Walther, Paul;
    • Ludolph, Albert C.;
    • Andersen, Peter M.;
    • Otto, Markus
    Publication type:
    Article
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    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
    By:
    • Anttonen, Anna-Kaisa;
    • Mahjneh, Ibrahim;
    • Hämäläinen, Riikka H.;
    • Lagier-Tourenne, Clotilde;
    • Kopra, Outi;
    • Waris, Laura;
    • Anttonen, Mikko;
    • Joensuu, Tarja;
    • Kalimo, Hannu;
    • Paetau, Anders;
    • Tranebjaerg, Lisbeth;
    • Chaigne, Denys;
    • Koenig, Michel;
    • Eeg-Olofsson, Orvar;
    • Udd, Bjarne;
    • Somer, Mirja;
    • Somer, Hannu;
    • Lehesjoki, Anna-Elina
    Publication type:
    Article
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    Panorama of the distal myopathies.

    Published in:
    Acta Myologica, 2020, v. 39, n. 4, p. 245, doi. 10.36185/2532-1900-028
    By:
    • Savarese, Marco;
    • Sarparanta, Jaakko;
    • Vihola, Anna;
    • Jonson, Per Harald;
    • Johari, Mridul;
    • Rusanen, Salla;
    • Hackman, Peter;
    • Udd, Bjarne
    Publication type:
    Article
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    Titin mutation segregates with hereditary myopathy with early respiratory failure.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
    By:
    • Pfeffer, Gerald;
    • Elliott, Hannah R.;
    • Griffin, Helen;
    • Barresi, Rita;
    • Miller, James;
    • Marsh, Julie;
    • Evilä, Anni;
    • Vihola, Anna;
    • Hackman, Peter;
    • Straub, Volker;
    • Dick, David J.;
    • Horvath, Rita;
    • Santibanez-Koref, Mauro;
    • Udd, Bjarne;
    • Chinnery, Patrick F.
    Publication type:
    Article
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    Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene.

    Published in:
    Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1674, doi. 10.1093/brain/awl088
    By:
    • Rita Horvath;
    • Gavin Hudson;
    • Gianfrancesco Ferrari;
    • Nancy Fütterer;
    • Sofia Ahola;
    • Eleonora Lamantea;
    • Holger Prokisch;
    • Hanns Lochmüller;
    • Robert McFarland;
    • V. Ramesh;
    • Thomas Klopstock;
    • Peter Freisinger;
    • Fabrizio Salvi;
    • Johannes A. Mayr;
    • Rene Santer;
    • Marketa Tesarova;
    • Jiri Zeman;
    • Bjarne Udd;
    • Robert W. Taylor;
    • Douglass Turnbull
    Publication type:
    Article
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    Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

    Published in:
    Journal of Neurology, 2019, v. 266, n. 2, p. 353, doi. 10.1007/s00415-018-9137-8
    By:
    • Sainio, Markus T.;
    • Välipakka, Salla;
    • Rinaldi, Bruno;
    • Lapatto, Helena;
    • Paetau, Anders;
    • Ojanen, Simo;
    • Brilhante, Virginia;
    • Jokela, Manu;
    • Huovinen, Sanna;
    • Auranen, Mari;
    • Palmio, Johanna;
    • Friant, Sylvie;
    • Ylikallio, Emil;
    • Udd, Bjarne;
    • Tyynismaa, Henna
    Publication type:
    Article
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    Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
    By:
    • Lamont, Phillipa J.;
    • Wallefeld, William;
    • Hilton‐Jones, David;
    • Udd, Bjarne;
    • Argov, Zohar;
    • Barboi, Alexandru C.;
    • Bonneman, Carsten;
    • Boycott, Kym M.;
    • Bushby, Kate;
    • Connolly, Anne M.;
    • Davies, Nicholas;
    • Beggs, Alan H.;
    • Cox, Gerald F.;
    • Dastgir, Jahannaz;
    • DeChene, Elizabeth T.;
    • Gooding, Rebecca;
    • Jungbluth, Heinz;
    • Muelas, Nuria;
    • Palmio, Johanna;
    • Penttilä, Sini
    Publication type:
    Article
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