Works matching DE "MUSCULAR dystrophy genetics"


Results: 119
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    Clinical variability in calpainopathy: What makes the difference?

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888
    By:
    • de Paula, Flávia;
    • Vainzof, Mariz;
    • Passos-Bueno, Maria Rita;
    • de Cássia M Pavanello, Rita;
    • Matioli, Sergio Russo;
    • V B Anderson, Louise;
    • Nigro, Vincenzo;
    • Zatz, Mayana
    Publication type:
    Article
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    Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

    Published in:
    Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628
    By:
    • Wein, Nicolas;
    • Vulin, Adeline;
    • Falzarano, Maria S;
    • Szigyarto, Christina Al-Khalili;
    • Maiti, Baijayanta;
    • Findlay, Andrew;
    • Heller, Kristin N;
    • Uhlén, Mathias;
    • Bakthavachalu, Baskar;
    • Messina, Sonia;
    • Vita, Giuseppe;
    • Passarelli, Chiara;
    • Gualandi, Francesca;
    • Wilton, Steve D;
    • Rodino-Klapac, Louise R;
    • Yang, Lin;
    • Dunn, Diane M;
    • Schoenberg, Daniel R;
    • Weiss, Robert B;
    • Howard, Michael T
    Publication type:
    Article
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    A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.

    Published in:
    Nature Genetics, 1998, v. 20, n. 1, p. 37, doi. 10.1038/1689
    By:
    • Bashir, Rumaisa;
    • Britton, Stephen;
    • Strachan, Tom;
    • Keers, Sharon;
    • Vafiadaki, Elizabeth;
    • Lako, Majlinda;
    • Richard, Isabelle;
    • Marchand, Sylvie;
    • Bourg, Nathalie;
    • Argov, Zohar;
    • Sadeh, Menachem;
    • Mahjneh, Ibrahim;
    • Marconi, Giampiero;
    • Passos-Bueno, Maria Rita;
    • Moreira, Eloisa de S;
    • Zatz, Mayana;
    • Beckmann, Jacques S.;
    • Bushby, Kate
    Publication type:
    Article
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    Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.

    Published in:
    PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077430
    By:
    • Paco, Sonia;
    • Kalko, Susana G.;
    • Jou, Cristina;
    • Rodríguez, María A.;
    • Corbera, Joan;
    • Muntoni, Francesco;
    • Feng, Lucy;
    • Rivas, Eloy;
    • Torner, Ferran;
    • Gualandi, Francesca;
    • Gomez-Foix, Anna M.;
    • Ferrer, Anna;
    • Ortez, Carlos;
    • Nascimento, Andrés;
    • Colomer, Jaume;
    • Jimenez-Mallebrera, Cecilia
    Publication type:
    Article
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    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Published in:
    PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
    By:
    • Torella, Annalaura;
    • Fanin, Marina;
    • Mutarelli, Margherita;
    • Peterle, Enrico;
    • Del Vecchio Blanco, Francesca;
    • Rispoli, Rossella;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Piluso, Giulio;
    • Morandi, Lucia;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Angelini, Corrado;
    • Nigro, Vincenzo
    Publication type:
    Article
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    Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions.

    Published in:
    PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006574
    By:
    • Daoud, Fatma;
    • Candelario-Martínez, Aurora;
    • Billard, Jean-Marie;
    • Avital, Avi;
    • Khelfaoui, Malik;
    • Rozenvald, Yael;
    • Guegan, Maryvonne;
    • Mornet, Dominique;
    • Jaillard, Danielle;
    • Nudel, Uri;
    • Chelly, Jamel;
    • Martínez-Rojas, Dalila;
    • Laroche, Serge;
    • Yaffe, David;
    • Vaillend, Cyrille
    Publication type:
    Article
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    Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
    By:
    • Ruggieri, Alessandra;
    • Brancati, Francesco;
    • Zanotti, Simona;
    • Maggi, Lorenzo;
    • Pasanisi, Maria Barbara;
    • Saredi, Simona;
    • Terracciano, Chiara;
    • Antozzi, Carlo;
    • D'Apice, Maria Rosaria;
    • Sangiuolo, Federica;
    • Novelli, Giuseppe;
    • Marshall, Christian R.;
    • Scherer, Stephen W.;
    • Morandi, Lucia;
    • Federici, Luca;
    • Massa, Roberto;
    • Mora, Marina;
    • Minassian, Berge A.
    Publication type:
    Article
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    Exon-skipping events in candidates for clinical trials of morpholino.

    Published in:
    Pediatrics International, 2011, v. 53, n. 4, p. 524, doi. 10.1111/j.1442-200X.2011.03330.x
    By:
    • Nakano, Shiho;
    • Ozasa, Shiro;
    • Yoshioka, Kowashi;
    • Fujii, Isao;
    • Mitsui, Kouichi;
    • Nomura, Keiko;
    • Kosuge, Hirofumi;
    • Endo, Fumio;
    • Matsukura, Makoto;
    • Kimura, Shigemi
    Publication type:
    Article
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    Neuronal expression of the fukutin gene.

    Published in:
    Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3083
    By:
    • Sasaki, Junko;
    • Ishikawa, Kinya;
    • Kobayashi, Kazuhiro;
    • Kondo-Iida, Eri;
    • Fukayama, Masahisa;
    • Mizusawa, Hidehiro;
    • Takashima, Sachio;
    • Sakakihara, Yoichi;
    • Nakamura, Yusuke;
    • Toda, Tatsushi
    Publication type:
    Article
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    Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

    Published in:
    Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393
    By:
    • Tagawa, Kazuhiko;
    • Taya, Choji;
    • Hayashi, Yukiko;
    • Nakagawa, Masahiro;
    • Ono, Yasuko;
    • Fukuda, Rie;
    • Karasuyama, Hajime;
    • Toyama-Sorimachi, Noriko;
    • Katsui, Yukiko;
    • Hata, Shoji;
    • Ishiura, Shoichi;
    • Nonaka, Ikuya;
    • Seyama, Yosuke;
    • Arahata, Kiichi;
    • Yonekawa, Hiromichi;
    • Sorimachi, Hiroyuki
    Publication type:
    Article