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There are 3425 results for: content related to: A case of dysferlinopathy presenting choreic movements

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

    The FEBS Journal

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

    Version of Record online : 22 APR 2013, DOI: 10.1111/febs.12261

  2. Progress and challenges in diagnosis of dysferlinopathy

    Muscle & Nerve

    Volume 54, Issue 5, November 2016, Pages: 821–835, Marina Fanin and Corrado Angelini

    Version of Record online : 18 OCT 2016, DOI: 10.1002/mus.25367

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    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

    Version of Record online : 29 DEC 2011, DOI: 10.1002/humu.22015

  4. 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

    Version of Record online : 20 JAN 2015, DOI: 10.1002/acn3.172

  5. 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.

    Version of Record online : 30 NOV 2009, DOI: 10.1002/ana.21926

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    Dysferlin in Membrane Trafficking and Patch Repair

    Traffic

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

    Version of Record online : 5 JUN 2007, DOI: 10.1111/j.1600-0854.2007.00573.x

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    Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

    Traffic

    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

    Version of Record online : 18 OCT 2006, DOI: 10.1111/j.1600-0854.2006.00505.x

  8. 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

    Version of Record online : 16 JUN 2014, DOI: 10.1002/mus.24195

  9. 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

    Version of Record online : 10 SEP 2013, DOI: 10.1002/path.4207

  10. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb–girdle muscular dystrophies

    Annals of Neurology

    Volume 48, Issue 6, December 2000, Pages: 902–912, Federica Piccolo, Steven A. Moore, Gwendolyn C. Ford and Kevin P. Campbell

    Version of Record online : 23 MAR 2001, DOI: 10.1002/1531-8249(200012)48:6<902::AID-ANA11>3.0.CO;2-Z

  11. Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

    Muscle & Nerve

    Volume 54, Issue 6, December 2016, Pages: 1064–1071, Laura Sánchez-Chapul, Miguel Del Ángel-Muñoz, Luis Ruano-Calderón, Alexandra Luna-Angulo, Ramón Coral-Vázquez, Óscar Hernández-Hernández, Jonathan J. Magaña, Saúl R. León-Hernández, Rosa E. Escobar-Cedillo and Steven Vargas

    Version of Record online : 11 OCT 2016, DOI: 10.1002/mus.25156

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    Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells

    The FEBS Journal

    Volume 280, Issue 23, December 2013, Pages: 6045–6060, Mirella Meregalli, Claire Navarro, Clementina Sitzia, Andrea Farini, Erica Montani, Nicolas Wein, Paola Razini, Cyriaque Beley, Letizia Cassinelli, Daniele Parolini, Marzia Belicchi, Dario Parazzoli, Luis Garcia and Yvan Torrente

    Version of Record online : 8 OCT 2013, DOI: 10.1111/febs.12523

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    Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

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    Volume 13, Issue 2, February 2012, Pages: 185–194, Angela Lek, Frances J. Evesson, R. Bryan Sutton, Kathryn N. North and Sandra T. Cooper

    Version of Record online : 6 SEP 2011, DOI: 10.1111/j.1600-0854.2011.01267.x

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    Dysferlin deficiency blunts β-adrenergic-dependent lusitropic function of mouse heart

    The Journal of Physiology

    Volume 593, Issue 23, 1 December 2015, Pages: 5127–5144, Bin Wei, Hongguang Wei and J.-P. Jin

    Version of Record online : 2 NOV 2015, DOI: 10.1113/JP271225

  15. 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

    Version of Record online : 24 JUN 2014, DOI: 10.1002/humu.22591

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    Dysferlin deficiency confers increased susceptibility to coxsackievirus-induced cardiomyopathy

    Cellular Microbiology

    Volume 17, Issue 10, October 2015, Pages: 1423–1430, Chen Wang, Jerry Wong, Gabriel Fung, Junyan Shi, Haoyu Deng, Jingchun Zhang, Pascal Bernatchez and Honglin Luo

    Version of Record online : 16 JUL 2015, DOI: 10.1111/cmi.12473

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    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

    Version of Record online : 11 JUL 2005, DOI: 10.1002/humu.9355

  18. 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

    Version of Record online : 14 APR 2010, DOI: 10.1002/mus.21650

  19. Coupling of excitation to Ca2+ release is modulated by dysferlin

    The Journal of Physiology

    Volume 595, Issue 15, 1 August 2017, Pages: 5191–5207, Valeriy Lukyanenko, Joaquin M. Muriel and Robert J. Bloch

    Version of Record online : 26 JUN 2017, DOI: 10.1113/JP274515

  20. 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

    Version of Record online : 22 DEC 2008, DOI: 10.1111/j.1600-0404.2008.01129.x