Výsledky vyhledávání - C. Bönnemann

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  1. 1
    Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

    Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) Autor C. Bönnemann

    Vydáno 1996
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    Artigo
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  2. 2
    Approach to the diagnosis of congenital myopathies

    Approach to the diagnosis of congenital myopathies Autor Kathryn N. North, Ching H. Wang, Nigel F. Clarke, Heinz Jungbluth, Mariz Vainzof, James J. Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H. Beggs, Caroline A. Sewry, Nigel G. Laing, C. Bönnemann

    Vydáno 2013
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  3. 3
    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Autor Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano‐Roy, Francesco Muntoni, Sebahattin Çırak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma B. Romero, R. Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, C. Bönnemann, Johannes Zschocke, Christine Fauth

    Vydáno 2012
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  4. 4
    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations Autor Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Līvija Medne, Jodie M. Vento, Kimberly A. Chapman, Brendan C. Lanpher, Phillip L. Pearl, Andrea Gropman, Charles Marques Lourenço, J. Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf A. Bodamer, Simona Orcesi, Saskia A.J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, C. Bönnemann, Amy Waldman, Marjo S. van der Knaap

    Vydáno 2013
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  5. 5
    LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

    LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene Autor Amets Sáenz, France Leturcq, A.M. Cobo, Juan José Poza, Xavier Ferrer, David Otaegui, Pilar Camaño, Miguel Urtasun, Juan J. Vílchez, Eduardo Gutiérrez‐Rivas, José Ignacio Emparanza, Luciano Merlini, C. Paisán, María Goicoechea, Lorea Blázquez, B. Eymard, Hanns Lochmüller, Mathias C. Walter, C. Bönnemann, Dominique Figarella‐Branger, Josseline Kaplan, J. Andoni Urtizberea, J.F. Martí-Massó, Adolfo López de Munaín

    Vydáno 2005
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  6. 6
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions Autor Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    Vydáno 2025
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    Revisão
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  7. 7
    Consensus Statement on Standard of Care for Congenital Myopathies

    Consensus Statement on Standard of Care for Congenital Myopathies Autor Ching H. Wang, James J. Dowling, Kathryn N. North, Mary Schroth, Thomas Sejersen, Frederic Shapiro, Jonathan Bellini, Hali E. Weiss, Marc Guillet, Kimberly Amburgey, Susan Apkon, Enrico Bertini, C. Bönnemann, Nigel F. Clarke, Anne M. Connolly, Brigitte Estournet-Mathiaud, Dominic A. Fitzgerald, Julaine Florence, Richard Gee, Juliana Gurgel‐Giannetti, Allan M. Glanzman, Brittany Hofmeister, Heinz Jungbluth, Anastassios C. Koumbourlis, Nigel G. Laing, Marion Main, Leslie Morrison, Craig Munns, Kristy Rose, Pamela M. Schuler, C. Sewry, Kari Storhaug, Mariz Vainzof, Nanci Yuan

    Vydáno 2012
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  8. 8
    Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

    Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy Autor Thomas Meier, Christian Rummey, Mika Leinonen, Paolo Spagnolo, Oscar H. Mayer, Gunnar Buyse, G. Bernert, F. Knipp, Gunnar Buyse, Nathalie Goemans, M. van den Hauwe, Thomas Voït, Valérie Doppler, Teresa Gidaro, Jean‐Marie Cuisset, Stéphanie Coopman, Ulrike Schara, S. Lutz, Janbernd Kirschner, S. Borell, Matthew J. Will, Maria Grazia D’Angelo, Erika Brighina, S. Gandossini, Ksenija Gorni, Elisa Falcier, Luisa Politano, Paola D’Ambrosio, Antonella Taglia, Jan J.G.M. Verschuuren, C.S.M. Straathof, Juan J. Vílchez, N. Muelas Gómez, Thomas Sejersen, M. Hovmöller, Pierre‐Yves Jeannet, Clemens Bloetzer, Susan T. Iannaccone, Diana Castro, G. Tennekoon, Richard S. Finkel, C. Bönnemann, Craig M. McDonald, Erik Henricson, Nanette C. Joyce, Susan Apkon, Randal Richardson

    Vydáno 2017
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  9. 9
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy Autor Craig M. McDonald, Thomas Meier, Thomas Voït, Ulrike Schara, C.S.M. Straathof, Maria Grazia D’Angelo, G. Bernert, Jean‐Marie Cuisset, Richard S. Finkel, Nathalie Goemans, Christian Rummey, Mika Leinonen, Paolo Spagnolo, Gunnar Buyse, G. Bernert, F. Knipp, Gunnar Buyse, Nathalie Goemans, M. van den Hauwe, Thomas Voït, Valérie Doppler, Teresa Gidaro, Jean‐Marie Cuisset, Stéphanie Coopman, Ulrike Schara, S. Lutz, Janbernd Kirschner, S. Borell, Matthew J. Will, Maria Grazia D’Angelo, Erika Brighina, S. Gandossini, Ksenija Gorni, Elisa Falcier, Luisa Politano, Paola D’Ambrosio, Antonella Taglia, Jan J.G.M. Verschuuren, C.S.M. Straathof, Juan J. Vílchez, N. Muelas Gómez, Thomas Sejersen, M. Hovmöller, Pierre‐Yves Jeannet, Clemens Bloetzer, Susan T. Iannaccone, Diana Castro, G. Tennekoon, Richard S. Finkel, C. Bönnemann, Craig M. McDonald, Erik Henricson, Nanette C. Joyce, Susan Apkon, Randal Richardson

    Vydáno 2016
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  10. 10
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights Autor Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

    Vydáno 2018
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