neuromuscular diseases

  • Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
    Huahua Zhong, Yiming Zheng, Zhe Zhao, Pengfei Lin, Jianying Xi, Wenhua Zhu, Jie Lin, Jun Lu, Meng Yu, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Yun Yuan, Sushan Luo
  • De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
    Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki
  • Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
    Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M Cornejo-Sanchez, Thashi Bharadwaj, Jin Yan, Lingxiang Zhang, Nicolas Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan
  • Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
    Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances
  • Myasthenia gravis genome-wide association study implicates AGRN as a risk locus
    Apostolia Topaloudi, Zoi Zagoriti, Alyssa Camille Flint, Melanie Belle Martinez, Zhiyu Yang, Fotis Tsetsos, Yiolanda-Panayiota Christou, George Lagoumintzis, Evangelia Yannaki, Eleni Zamba-Papanicolaou, John Tzartos, Xanthippi Tsekmekidou, Kalliopi Kotsa, Efstratios Maltezos, Nikolaos Papanas, Dimitrios Papazoglou, Ploumis Passadakis, Athanasios Roumeliotis, Stefanos Roumeliotis, Marios Theodoridis, Elias Thodis, Stylianos Panagoutsos, John Yovos, John Stamatoyannopoulos, Konstantinos Poulas, Kleopas Kleopa, Socrates Tzartos, Marianthi Georgitsi, Peristera Paschou
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
    Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
  • Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
    Richard J L F Lemmers, Patrick J van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J Tapscott, Nicol C Voermans, Rabi Tawil, George W A M Padberg, Baziel GM van Engelen, Silvère M van der Maarel
  • MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction
    Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan