Resultados da pesquisa - Bjarne Udd

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  1. 1
    Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

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

    Publicado em 2020
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  2. 2
    Increasing Role of Titin Mutations in Neuromuscular Disorders

    Increasing Role of Titin Mutations in Neuromuscular Disorders Por Marco Savarese, J. Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman

    Publicado em 2016
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  3. 3
    Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

    Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations Por Homa Tajsharghi, David Hilton‐Jones, Olayinka Raheem, Anna Maija Saukkonen, Anders Oldfors, Bjarne Udd

    Publicado em 2010
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  4. 4
    Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31

    Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31 Por Henna Haravuori, Päivi Mäkelä‐Bengs, Bjarne Udd, Juhani Partanen, Leena Pulkkinen, Hannu Somer, Leena Peltonen

    Publicado em 1998
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  5. 5
    The complexity of titin splicing pattern in human adult skeletal muscles

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

    Publicado em 2018
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  6. 6
    Novel <scp>SCN4A</scp> Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

    Novel <scp>SCN4A</scp> Variants Associated With Myalgic Myotonic Disorder or Paramyotonia Por Vesa Periviita, Roope Männikkö, Manu Jokela, Richa Sud, Michael G. Hanna, Bjarne Udd, Johanna Palmio

    Publicado em 2025
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  7. 7
    Tibial muscular dystrophy in a Belgian family

    Tibial muscular dystrophy in a Belgian family Por Peter Van den Bergh, Olivier Bouquiaux, Christine Verellen, Sylvie Marchand, Isabelle Richard, Peter Hackman, Bjarne Udd

    Publicado em 2003
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  8. 8
    Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

    Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D Por Satu Sandell, Sanna Huovinen, Johanna Palmio, Olayinka Raheem, Mikaela Lindfors, Fanghui Zhao, Hannu Haapasalo, Bjarne Udd

    Publicado em 2016
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  9. 9
    Myotonic dystrophy type 2 (DM2) and related disorders

    Myotonic dystrophy type 2 (DM2) and related disorders Por Bjarne Udd, G. Meola, Ralf Krahe, Derick G. Wansink, Guillaume Bassez, Wolfram Kreß, Benedikt Schoser, Richard T. Moxley

    Publicado em 2011
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  10. 10
    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany Por T. Suominen, Benedikt Schoser, O. Raheem, S. Auvinen, Maria Emília M. T. Walter, Ralf Krahe, Hanns Lochmüller, Wolfram Kreß, Bjarne Udd

    Publicado em 2008
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  11. 11
    Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

    Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland Por Tiina Suominen, Linda L. Bachinski, S. Auvinen, Peter Hackman, Keith Baggerly, C. Angelini, Leena Peltonen, Ralf Krahe, Bjarne Udd

    Publicado em 2011
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  12. 12
    Premutation allele pool in myotonic dystrophy type 2

    Premutation allele pool in myotonic dystrophy type 2 Por Linda L. Bachinski, Tomek Czernuszewicz, Louis S. Ramagli, Tiina Suominen, Mark D. Shriver, Bjarne Udd, Michael J. Siciliano, Ralf Krahe

    Publicado em 2008
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  13. 13
    Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

    Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies Por J. Sarparanta, Gaëlle Blandin, Karine Charton, Anna Vihola, Sylvie Marchand, Astrid Milić, Peter Hackman, Elisabeth Ehler, Isabelle Richard, Bjarne Udd

    Publicado em 2010
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  14. 14
    Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

    Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin Por Monica Ohlsson, Carola Hedberg, Björn Brådvik, Christopher Lindberg, Homa Tajsharghi, Olof Danielsson, Atle Melberg, Bjarne Udd, Tommy Martinsson, Anders Oldfors

    Publicado em 2012
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  15. 15
    Myotilin gene duplication causing late‐onset myotilinopathy

    Myotilin gene duplication causing late‐onset myotilinopathy Por Marco Spinazzi, Marco Savarese, Franck Letournel, Lydia Sagath, Florence Manero, Agnès Guichet, Alexander Hoischen, Corinne Métay, Julien Gouju, Bjarne Udd

    Publicado em 2025
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  16. 16
    140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

    140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management Por Bjarne Udd, G. Meola, Ralf Krahe, Charles A. Thornton, Laura P.W. Ranum, Guillaume Bassez, Wolfram Kreß, Benedikt Schoser, Richard T. Moxley

    Publicado em 2006
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  17. 17
    229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

    229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 Por Volker Straub, Alexander P. Murphy, Bjarne Udd, C. Angelini, Ségolène Aymé, Carsten Bönneman, Marjolein Visser, Ada Hamosh, Laura Jacobs, Nina Khizanishvili, Madelon Kroneman, Pascal Laflorêt, A. St. J. Murphy, Vincenzo Nigro, Laura Rufibach, Anna Sárközy, Shaun Swanepoel, Ivan Torrente, Bjarne Udd, Andoni Urtizberea, John Vissing, Maggie C. Walter

    Publicado em 2018
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  18. 18
    Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

    Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin Por Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, J. Sarparanta, de Sèze, Siegfried Labeit, Christian Witt, Leena Peltonen, Isabelle Richard, Bjarne Udd

    Publicado em 2002
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  19. 19
    Distal myopathy caused by homozygous missense mutations in the nebulin gene

    Distal myopathy caused by homozygous missense mutations in the nebulin gene Por Carina Wallgren‐Pettersson, Vilma‐Lotta Lehtokari, Hannu Kalimo, Anders Paetau, E. Matti Nuutinen, Peter Hackman, Caroline A. Sewry, Katarina Pelin, Bjarne Udd

    Publicado em 2007
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  20. 20
    1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

    1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018 Por Bjarne Udd, Werner Stenzel, Anders Oldfors, Montse Olivé, Norma B. Romero, Martin Lammens, Benno Küsters, C. Sewry, Hans‐Hilmar Goebel, Teresinha Evangelista

    Publicado em 2019
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