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There are 14291 results for: content related to: SEPN1 : Associated with congenital fiber-type disproportion and insulin resistance

  1. You have free access to this content
    Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons

    The EMBO Journal

    Volume 24, Issue 8, April 20, 2005, Pages: 1596–1607, Michael T Howard, Gaurav Aggarwal, Christine B Anderson, Shikha Khatri, Kevin M Flanigan and John F Atkins

    Article first published online : 24 MAR 2005, DOI: 10.1038/sj.emboj.7600642

  2. You have free access to this content
    A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

    EMBO reports

    Volume 7, Issue 4, April 2006, Pages: 450–454, Valérie Allamand, Pascale Richard, Alain Lescure, Céline Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, Nadine Pellegrini, J Andoni Urtizberea and Pascale Guicheney

    Article first published online : 24 FEB 2006, DOI: 10.1038/sj.embor.7400648

  3. You have free access to this content
    Ferroportin1 in hepatocytes and macrophages is required for the efficient mobilization of body iron stores in mice


    Volume 56, Issue 3, September 2012, Pages: 961–971, Zhuzhen Zhang, Fan Zhang, Xin Guo, Peng An, Yunlong Tao and Fudi Wang

    Article first published online : 2 AUG 2012, DOI: 10.1002/hep.25746

  4. Desmin-related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene

    Annals of Neurology

    Volume 55, Issue 5, May 2004, Pages: 676–686, Ana Ferreiro, Chantal Ceuterick-de Groote, Jared J. Marks, Nathalie Goemans, Gudrun Schreiber, Folker Hanefeld, Michel Fardeau, Jean-Jacques Martin, Hans H. Goebel, Pascale Richard, Pascale Guicheney and Carsten G. Bönnemann

    Article first published online : 25 MAR 2004, DOI: 10.1002/ana.20077

  5. Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment

    Annals of Neurology

    Volume 65, Issue 6, June 2009, Pages: 677–686, Sandrine Arbogast, Maud Beuvin, Bodvaël Fraysse, Haïyan Zhou, Francesco Muntoni and Ana Ferreiro

    Article first published online : 19 MAR 2009, DOI: 10.1002/ana.21644

  6. Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

    Muscle & Nerve

    Volume 52, Issue 5, November 2015, Pages: 728–735, Karolina Hankiewicz, Robert Y. Carlier, Leila Lazaro, Javier Linzoain, Christine Barnerias, David Gómez-Andrés, Daniela Avila-Smirnow, Ana Ferreiro, Brigitte Estournet, Pascale Guicheney, Dominique P. Germain, Pascale Richard, Sebastian Bulacio, Dominique Mompoint and Susana Quijano-Roy

    Article first published online : 14 SEP 2015, DOI: 10.1002/mus.24634

  7. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 411–416, Baijayanta Maiti, Sandrine Arbogast, Valérie Allamand, Mark W. Moyle, Christine B. Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin M. Flanigan and Michael T. Howard

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20879

  8. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Article first published online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  9. Loss of ASP but not ROPN1 reduces mammalian ciliary motility


    Volume 69, Issue 1, January 2012, Pages: 22–32, Sarah E. Fiedler, Joseph H. Sisson, Todd A. Wyatt, Jacqueline A. Pavlik, Todd M. Gambling, Johnny L. Carson and Daniel W. Carr

    Article first published online : 8 NOV 2011, DOI: 10.1002/cm.20539

  10. Core myopathies and malignant hyperthermia susceptibility: a review

    Pediatric Anesthesia

    Volume 23, Issue 9, September 2013, Pages: 834–841, Robert P. Brislin and Mary C. Theroux

    Article first published online : 25 APR 2013, DOI: 10.1111/pan.12175

  11. The ever-expanding spectrum of congenital muscular dystrophies

    Annals of Neurology

    Volume 72, Issue 1, July 2012, Pages: 9–17, Eugenio Mercuri and Francesco Muntoni

    Article first published online : 23 JUL 2012, DOI: 10.1002/ana.23548

  12. You have free access to this content
    A bacterial cysteine protease effector protein interferes with photosynthesis to suppress plant innate immune responses

    Cellular Microbiology

    Volume 14, Issue 5, May 2012, Pages: 669–681, José J. Rodríguez-Herva, Pablo González-Melendi, Raquel Cuartas-Lanza, María Antúnez-Lamas, Isabel Río-Alvarez, Ziduo Li, Gema López-Torrejón, Isabel Díaz, Juan C. del Pozo, Suma Chakravarthy, Alan Collmer, Pablo Rodríguez-Palenzuela and Emilia López-Solanilla

    Article first published online : 15 FEB 2012, DOI: 10.1111/j.1462-5822.2012.01749.x

  13. You have free access to this content
    PABPN1: molecular function and muscle disease

    FEBS Journal

    Volume 280, Issue 17, September 2013, Pages: 4230–4250, Ayan Banerjee, Luciano H. Apponi, Grace K. Pavlath and Anita H. Corbett

    Article first published online : 24 MAY 2013, DOI: 10.1111/febs.12294

  14. You have free access to this content
    Congenital myopathies – a comprehensive update of recent advancements

    Acta Neurologica Scandinavica

    Volume 119, Issue 5, May 2009, Pages: 281–292, M. C. Sharma, D. Jain, C. Sarkar and H. H. Goebel

    Article first published online : 30 DEC 2008, DOI: 10.1111/j.1600-0404.2008.01126.x

  15. You have free access to this content
    Evidence for distinct DNA- and RNA-based mechanisms of 5-fluorouracil cytotoxicity in Saccharomyces cerevisiae


    Volume 24, Issue 10, October 2007, Pages: 861–870, Jason Hoskins and J. Scott Butler

    Article first published online : 20 JUL 2007, DOI: 10.1002/yea.1516

  16. Linkage mapping of four chicken calpain genes

    Animal Science Journal

    Volume 76, Issue 2, April 2005, Pages: 121–127, Fumihiko OKUMURA, Takeshi SHIMOGIRI, Yoko SHINBO, Kanako YOSHIZAWA, Kotaro KAWABE, Hideyuki MANNEN, Shin OKAMOTO, Hans H. CHENG and Yoshizane MAEDA

    Article first published online : 17 MAR 2005, DOI: 10.1111/j.1740-0929.2005.00246.x

  17. Proteomic analysis reveals a proteolytic feedback loop in murine seminal fluid

    The Prostate

    Volume 73, Issue 13, September 2013, Pages: 1427–1440, Chad M. McKee, Danmei Xu, Benedikt M. Kessler and Ruth J. Muschel

    Article first published online : 14 JUN 2013, DOI: 10.1002/pros.22690

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    Knockdown of m-calpain increases survival of primary hippocampal neurons following NMDA excitotoxicity

    Journal of Neurochemistry

    Volume 108, Issue 5, March 2009, Pages: 1237–1250, Matthew B. Bevers, Eric Lawrence, Margaret Maronski, Neasa Starr, Michael Amesquita and Robert W. Neumar

    Article first published online : 22 DEC 2008, DOI: 10.1111/j.1471-4159.2008.05860.x

  19. You have free access to this content
    A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1

    The EMBO Journal

    Volume 25, Issue 10, May 17, 2006, Pages: 2253–2262, Aymeric Chartier, Béatrice Benoit and Martine Simonelig

    Article first published online : 27 APR 2006, DOI: 10.1038/sj.emboj.7601117

  20. You have free access to this content
    Development of a dual-color, double fusion FISH assay to detect RPN1/EVI1 gene fusion associated with inv(3), t(3;3), and ins(3;3) in patients with myelodysplasia and acute myeloid leukemia

    American Journal of Hematology

    Volume 85, Issue 8, August 2010, Pages: 569–574, Brandon M. Shearer, William R. Sukov, Heather C. Flynn, Ryan A. Knudson and Rhett P. Ketterling

    Article first published online : 27 APR 2010, DOI: 10.1002/ajh.21746