myopathy

  • Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
    Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso-Jiménez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olivé, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Domínguez-González, George K Papadimas, Jodi Warman, Kristl G Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N Alfano, Sruthi S Nair, Georgios Manousakis, Hani A Kushlaf, Matthew B Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge García-García, Endre Pál, Maria Elena Farrugia, Phillipa J Lamont, Colin Quinn, Velina Nedkova-Hristova, Stojan Peric, Sushan Luo, Anders Oldfors, Kate Taylor, Stuart Ralston, Tanya Stojkovic, Conrad Weihl, Jordi Diaz-Manera
  • Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
    Katherine Johnson, Willem De Ridder, Ana Töpf, Marta Bertoli, Lauren Phillips, Peter De Jonghe, Jonathan Baets, Tine Deconinck, Vidosava Rakocevic Stojanovic, Stojan Perić, Hacer Durmus, Shirin Jamal-Omidi, Shahriar Nafissi, Tiziana Mongini, Anna Łusakowska, Mark Busby, James Miller, Fiona Norwood, Judith Hudson, Rita Barresi, Monkol Lek, Daniel G MacArthur, Volker Straub
  • Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy
    Emma Matthews, Louise Hartley, Richa Sud, Michael G Hanna, Francesco Muntoni, Pinki Munot
  • Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
    Irene Colombo, Serena Pagliarani, Silvia Testolin, Claudia Maria Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Andreina Bordoni, Francesco Fortunato, Francesca Magri, Stefano Carlo Previtali, Daniele Velardo, Monica Sciacco, Giacomo Pietro Comi, Maurizio Moggio
  • Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement
    N A Goyal, T M Cash, U Alam, S Enam, P Tierney, N Araujo, F H Mozaffar, A Pestronk, T Mozaffar
  • Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
    Amandine Sevy, Mathieu Cerino, Svetlana Gorokhova, Eugénie Dionnet, Yves Mathieu, Annie Verschueren, Jérôme Franques, André Maues de Paula, Dominique Figarella-Branger, Arnaud Lagarde, Jean Pierre Desvignes, Christophe Béroud, Shahram Attarian, Nicolas Levy, Marc Bartoli, Martin Krahn, Emmanuelle Campana-Salort, Jean Pouget
  • Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
    N Deconinck, P Richard, V Allamand, A Behin, P Lafôret, A Ferreiro, A de Becdelievre, C Ledeuil, C Gartioux, I Nelson, R Y Carlier, P Carlier, K Wahbi, N Romero, M T Zabot, F Bouhour, V Tiffreau, A Lacour, B Eymard, T Stojkovic
  • Pathology provides clarity in the next-generation sequencing era
    Gianina Ravenscroft
  • Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure
    Akinori Uruha, Yukiko K Hayashi, Yasushi Oya, Madoka Mori-Yoshimura, Masahiro Kanai, Miho Murata, Mayumi Kawamura, Katsuhisa Ogata, Tsuyoshi Matsumura, Shigeaki Suzuki, Yukako Takahashi, Takayuki Kondo, Takeshi Kawarabayashi, Yuko Ishii, Norito Kokubun, Satoshi Yokoi, Rei Yasuda, Jun-ichi Kira, Satomi Mitsuhashi, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino
  • GNE myopathy: current update and future therapy
    Ichizo Nishino, Nuria Carrillo-Carrasco, Zohar Argov

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