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There are 15532 results for: content related to: High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

  1. You have free access to this content
    The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

    Muscle & Nerve

    Volume 55, Issue 1, January 2017, Pages: 55–68, Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Giorgio Tasca, Enzo Ricci, Mauro Monforte, Monica Sciacco, Chiara Fiorillo, Sandra Gandossini, Carlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin and Giacomo Pietro Comi

    Version of Record online : 28 OCT 2016, DOI: 10.1002/mus.25192

  2. Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I

    Acta Paediatrica

    Volume 103, Issue 5, May 2014, Pages: 553–558, Magnhild Rasmussen, David Scheie, Noralv Breivik, Marit Mork and Sigurd Lindal

    Version of Record online : 10 FEB 2014, DOI: 10.1111/apa.12561

  3. You have free access to this content
    Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I

    European Journal of Heart Failure

    Volume 15, Issue 9, September 2013, Pages: 986–994, Kieren G. Hollingsworth, Tracey A. Willis, Matthew G.D. Bates, Ben J. Dixon, Hanns Lochmüller, Kate Bushby, John Bourke, Guy A. MacGowan and Volker Straub

    Version of Record online : 27 JAN 2014, DOI: 10.1093/eurjhf/hft057

  4. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I

    Annals of Neurology

    Volume 80, Issue 3, September 2016, Pages: 466–471, Nicoline Løkken, Gitte Hedermann, Carsten Thomsen and John Vissing

    Version of Record online : 10 AUG 2016, DOI: 10.1002/ana.24743

  5. Episodes of exercise-induced dark urine and myalgia in LGMD 2I

    Acta Neurologica Scandinavica

    Volume 125, Issue 4, April 2012, Pages: 285–287, C. Lindberg, C. Sixt and A. Oldfors

    Version of Record online : 27 OCT 2011, DOI: 10.1111/j.1600-0404.2011.01608.x

  6. Molecular Genetics of Limb-Girdle Muscular Dystrophies

    Standard Article

    eLS

    Massimiliano Filosto, Mauro Scarpelli and Alessandro Padovani

    Published Online : 14 MAY 2015, DOI: 10.1002/9780470015902.a0022407

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    EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

    European Journal of Neurology

    Volume 14, Issue 12, December 2007, Pages: 1305–1312, F. Norwood, M. De Visser, B. Eymard, H. Lochmüller and K. Bushby

    Version of Record online : 15 NOV 2007, DOI: 10.1111/j.1468-1331.2007.01979.x

  8. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

    Muscle & Nerve

    Volume 40, Issue 5, November 2009, Pages: 883–889, Marta Margeta, Anne M. Connolly, Thomas L. Winder, Alan Pestronk and Steven A. Moore

    Version of Record online : 24 AUG 2009, DOI: 10.1002/mus.21432

  9. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

    Muscle & Nerve

    Volume 52, Issue 2, August 2015, Pages: 163–173, Marina Fanin and Corrado Angelini

    Version of Record online : 29 MAY 2015, DOI: 10.1002/mus.24682

  10. Phenotypic spectrum associated with mutations in the fukutin-related protein gene

    Annals of Neurology

    Volume 53, Issue 4, April 2003, Pages: 537–542, Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano-Roy, Yeliz Yuva, Ralf Herrmann, Susan C. Brown, Silvia Torelli, Victor Dubowitz, Derek J. Blake, Norma B. Romero, Brigitte Estournet, Caroline A. Sewry, Pascale Guicheney, Thomas Voit and Francesco Muntoni

    Version of Record online : 24 MAR 2003, DOI: 10.1002/ana.10559

  11. Resistance training in patients with limb-girdle and becker muscular dystrophies

    Muscle & Nerve

    Volume 47, Issue 2, February 2013, Pages: 163–169, Marie-Louise Sveen, Søren P. Andersen, Lina H. Ingelsrud, Sarah Blichter, Niels E. Olsen, Simon Jønck, Thomas O. Krag and John Vissing

    Version of Record online : 21 NOV 2012, DOI: 10.1002/mus.23491

  12. Clinical genetics and the Hutterite population: A review of Mendelian disorders

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1088–1098, Kym M. Boycott, Jillian S. Parboosingh, Bernie N. Chodirker, R. Brian Lowry, D. Ross McLeod, Jackie Morris, Cheryl R. Greenberg, Albert E. Chudley, Francois P. Bernier, Julian Midgley, Lisbeth Birk Møller and A. Micheil Innes

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32245

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    A look into the cockpit of the developing locust: Looming detectors and predator avoidance

    Developmental Neurobiology

    Volume 74, Issue 11, November 2014, Pages: 1078–1095, Julieta Sztarker and F. Claire Rind

    Version of Record online : 8 MAY 2014, DOI: 10.1002/dneu.22184

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    Myopathology in times of modern imaging

    Neuropathology and Applied Neurobiology

    Volume 43, Issue 1, February 2017, Pages: 24–43, H. Jungbluth

    Version of Record online : 15 MAR 2017, DOI: 10.1111/nan.12385

  15. Atypical phenotypes in titinopathies explained by second titin mutations

    Annals of Neurology

    Volume 75, Issue 2, February 2014, Pages: 230–240, Anni Evilä, Anna Vihola, Jaakko Sarparanta, Olayinka Raheem, Johanna Palmio, Satu Sandell, Bruno Eymard, Isabel Illa, Ricard Rojas-Garcia, Karolina Hankiewicz, Luis Negrão, Tuija Löppönen, Pekka Nokelainen, Mikko Kärppä, Sini Penttilä, Mark Screen, Tiina Suominen, Isabelle Richard, Peter Hackman and Bjarne Udd

    Version of Record online : 24 FEB 2014, DOI: 10.1002/ana.24102

  16. A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 275–281, J Van Reeuwijk, MJW Olderode-Berends, C Van Den Elzen, OF Brouwer, T Roscioli, MG Van Pampus, H Scheffer, HG Brunner, H Van Bokhoven and FA Hol

    Version of Record online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01384.x

  17. Limb-girdle muscular dystrophies – from genetics to molecular pathology

    Neuropathology and Applied Neurobiology

    Volume 30, Issue 2, April 2004, Pages: 91–105, S. H. Laval and K. M. D. Bushby

    Version of Record online : 25 MAR 2004, DOI: 10.1111/j.1365-2990.2004.00555.x

  18. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

    Muscle & Nerve

    Volume 48, Issue 6, December 2013, Pages: 897–901, Søren P. Andersen, Marie-Louise Sveen, Regitze S. Hansen, Karen L. Madsen, Jonas B. Hansen, Mads Madsen and John Vissing

    Version of Record online : 21 APR 2013, DOI: 10.1002/mus.23846

  19. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

    Annals of Neurology

    Volume 56, Issue 5, November 2004, Pages: 738–741, Maja Poppe, John Bourke, Michelle Eagle, Patrick Frosk, Klaus Wrogemann, Cheryl Greenberg, Francesco Muntoni, Thomas Voit, Volker Straub, David Hilton-Jones, Cheerag Shirodaria and Kate Bushby

    Version of Record online : 25 OCT 2004, DOI: 10.1002/ana.20283

  20. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies

    Muscle & Nerve

    Volume 52, Issue 4, October 2015, Pages: 547–553, Nicoline Løkken, Alfred Peter Born, Morten Duno and John Vissing

    Version of Record online : 13 AUG 2015, DOI: 10.1002/mus.24588