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There are 2440 results for: content related to: ANO 5 - m uscular dystrophy: clinical, pathological and molecular findings

  1. You have free access to this content
    Dysferlin-deficient muscular dystrophy and innate immune activation

    FEBS Journal

    Volume 280, Issue 17, September 2013, Pages: 4165–4176, Andrew Mariano, Audrey Henning and Renzhi Han

    Article first published online : 22 APR 2013, DOI: 10.1111/febs.12261

  2. Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 333–339, Arunkanth Ankala, Babi R. Nallamilli, Laura E. Rufibach, Esther Hwang and Madhuri R. Hegde

    Article first published online : 16 JUN 2014, DOI: 10.1002/mus.24195

  3. You have free access to this content
    UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: E2317–E2331, Gaelle Blandin, Christophe Beroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, Dalil Hamroun, Brad Williams, Nilah Monnier, Laura E. Rufibach, Jon Andoni Urtizberea, Pierre Cau, Marc Bartoli, Nicolas Lévy and Martin Krahn

    Article first published online : 29 DEC 2011, DOI: 10.1002/humu.22015

  4. You have free access to this content
    First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene

    Neurology and Clinical Neuroscience

    Volume 3, Issue 4, July 2015, Pages: 150–152, Hiroshi Kida, Ken Sano, Akiko Yorita, Shiroh Miura, Mitsuyoshi Ayabe, Yukiko Hayashi, Ichizo Nishino and Takayuki Taniwaki

    Article first published online : 3 MAR 2015, DOI: 10.1111/ncn3.175

  5. You have full text access to this OnlineOpen article
    AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 3, March 2015, Pages: 256–270, Patricia C. Sondergaard, Danielle A. Griffin, Eric R. Pozsgai, Ryan W. Johnson, William E. Grose, Kristin N. Heller, Kim M. Shontz, Chrystal L. Montgomery, Joseph Liu, Kelly Reed Clark, Zarife Sahenk, Jerry R. Mendell and Louise R. Rodino-Klapac

    Article first published online : 20 JAN 2015, DOI: 10.1002/acn3.172

  6. Toward an objective measure of functional disability in dysferlinopathy

    Muscle & Nerve

    Lisanne Woudt, Gabriella A. Di Capua, Martin Krahn, Claudia Castiglioni, Ricardo Hughes, Mario Campero, Alejandra Trangulao, Patricio González-Hormazábal, Raúl Godoy-Herrera, Nicolas Lévy, Jon Andoni Urtizberea, Lilian Jara and Jorge A. Bevilacqua

    Article first published online : 23 MAY 2015, DOI: 10.1002/mus.24685

  7. Dysferlin overexpression in skeletal muscle produces a progressive myopathy

    Annals of Neurology

    Volume 67, Issue 3, March 2010, Pages: 384–393, Louise E. Glover, Kimberly Newton, Gomathi Krishnan, Roderick Bronson, Alexandra Boyle, Lisa S. Krivickas and Robert H. Brown Jr.

    Article first published online : 30 NOV 2009, DOI: 10.1002/ana.21926

  8. You have free access to this content
    Dysferlin in Membrane Trafficking and Patch Repair


    Volume 8, Issue 7, July 2007, Pages: 785–794, Louise Glover and Robert H. Brown Jr

    Article first published online : 5 JUN 2007, DOI: 10.1111/j.1600-0854.2007.00573.x

  9. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L

    Muscle & Nerve

    Volume 47, Issue 2, February 2013, Pages: 287–291, Ann A. Little, Paul E. Mckeever and Kirsten L. Gruis

    Article first published online : 21 NOV 2012, DOI: 10.1002/mus.23542

  10. The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands

    The Journal of Pathology

    Volume 231, Issue 2, October 2013, Pages: 199–209, Kitipong Uaesoontrachoon, Hee-Jae Cha, Beryl Ampong, Arpana Sali, Jack Vandermeulen, Benjamin Wei, Brittany Creeden, Tony Huynh, James Quinn, Kathleen Tatem, Sree Rayavarapu, Eric P Hoffman and Kanneboyina Nagaraju

    Article first published online : 10 SEP 2013, DOI: 10.1002/path.4207

  11. Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 990–997, Eduard Gallardo, Arunkanth Ankala, Yaiza Núñez-Álvarez, Madhuri Hegde, Jordi Diaz-Manera, Noemí De Luna, Ana Pastoret, Mònica Suelves and Isabel Illa

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22591

  12. You have free access to this content
    Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

    Human Mutation

    Volume 26, Issue 2, August 2005, Page: 165, Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq and Nicolas Lévy

    Article first published online : 11 JUL 2005, DOI: 10.1002/humu.9355

  13. Novel diagnostic features of dysferlinopathies

    Muscle & Nerve

    Volume 42, Issue 1, July 2010, Pages: 14–21, Xiomara Q. Rosales, Julie M. Gastier-Foster, Sarah Lewis, Malik Vinod, Devon L. Thrush, Caroline Astbury, Robert Pyatt, Shalini Reshmi, Zarife Sahenk and Jerry R. Mendell

    Article first published online : 14 APR 2010, DOI: 10.1002/mus.21650

  14. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

    Acta Neurologica Scandinavica

    Volume 120, Issue 2, August 2009, Pages: 111–118, K. Kesper, C. Kornblum, J. Reimann, G. Lutterbey, R. Schröder and M. P. Wattjes

    Article first published online : 22 DEC 2008, DOI: 10.1111/j.1600-0404.2008.01129.x

  15. Muscle atrophy, ubiquitin–proteasome, and autophagic pathways in dysferlinopathy

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 340–347, Marina Fanin, Anna C. Nascimbeni and Corrado Angelini

    Article first published online : 17 MAY 2014, DOI: 10.1002/mus.24167

  16. Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

    Muscle & Nerve

    Volume 47, Issue 5, May 2013, Pages: 740–747, Mats I. Nilsson, Marissa L. Laureano, Munim Saeed and Mark A. Tarnopolsky

    Article first published online : 20 MAR 2013, DOI: 10.1002/mus.23666

  17. You have free access to this content
    Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect


    Volume 8, Issue 1, January 2007, Pages: 77–88, Jyoti K. Jaiswal, Gareth Marlow, Gillian Summerill, Ibrahim Mahjneh, Sebastian Mueller, Maria Hill, Katsuya Miyake, Hannelore Haase, Louise V. B. Anderson, Isabelle Richard, Sari Kiuru-Enari, Paul L. McNeil, Sanford M. Simon and Rumaisa Bashir

    Article first published online : 18 OCT 2006, DOI: 10.1111/j.1600-0854.2006.00505.x

  18. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

    Muscle & Nerve

    Volume 50, Issue 4, October 2014, Pages: 610–613, Rajat Lahoria, Thomas L. Winder, Jie Lui, Mohammed A. Al-Owain and Margherita Milone

    Article first published online : 30 AUG 2014, DOI: 10.1002/mus.24302

  19. You have free access to this content
    Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

    Human Mutation

    Volume 26, Issue 3, September 2005, Page: 283, Rachele Cagliani, Francesca Magri, Antonio Toscano, Luciano Merlini, Francesco Fortunato, Costanza Lamperti, Carmelo Rodolico, Alessandro Prelle, Manuela Sironi, Mohammed Aguennouz, Patrizia Ciscato, Antonino Uncini, Maurizio Moggio, Nereo Bresolin and Giacomo P. Comi

    Article first published online : 12 AUG 2005, DOI: 10.1002/humu.9364

  20. Muscle pathology in dysferlin deficiency

    Neuropathology and Applied Neurobiology

    Volume 28, Issue 6, December 2002, Pages: 461–470, M. Fanin and C. Angelini

    Article first published online : 24 NOV 2002, DOI: 10.1046/j.1365-2990.2002.00417.x