検索結果 - C. Bönnemann

  • 検索結果 1 - 10 結果 / 10
結果の絞り込み
  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) 著者: C. Bönnemann

    出版事項 1996
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  2. 2
    Approach to the diagnosis of congenital myopathies

    Approach to the diagnosis of congenital myopathies 著者: 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

    出版事項 2013
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  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 著者: 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

    出版事項 2012
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  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 著者: 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

    出版事項 2013
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  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 著者: 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

    出版事項 2005
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  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 著者: 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

    出版事項 2025
    全文の入手
    Revisão
    お気に入りに追加
    保存先:
  7. 7
    Consensus Statement on Standard of Care for Congenital Myopathies

    Consensus Statement on Standard of Care for Congenital Myopathies 著者: 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

    出版事項 2012
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  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 著者: 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

    出版事項 2017
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  9. 9
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy 著者: 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

    出版事項 2016
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  10. 10
    Congenital Titinopathy: Comprehensive characterization and pathogenic insights

    Congenital Titinopathy: Comprehensive characterization and pathogenic insights 著者: 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

    出版事項 2018
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:

検索ツール: