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There are 33881 results for: content related to: Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

  1. You have full text access to this OnlineOpen article
    Laing distal myopathy pathologically resembling inclusion body myositis

    Annals of Clinical and Translational Neurology

    Volume 1, Issue 12, December 2014, Pages: 1053–1058, Ricardo H. Roda, Alice B. Schindler, Craig Blackstone, Andrew L. Mammen, Andrea M. Corse and Thomas E. Lloyd

    Version of Record online : 6 NOV 2014, DOI: 10.1002/acn3.140

  2. Developmental expression and cardiac transcriptional regulation of Myh7b, a third myosin heavy chain in the vertebrate heart


    Volume 69, Issue 5, May 2012, Pages: 324–335, Andrew S. Warkman, Samantha A. Whitman, Melanie K. Miller, Robert J. Garriock, Catherine M. Schwach, Carol C. Gregorio and Paul A. Krieg

    Version of Record online : 30 APR 2012, DOI: 10.1002/cm.21029

  3. You have free access to this content
    Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

    European Journal of Heart Failure

    Volume 15, Issue 6, June 2013, Pages: 628–636, Karin Y. van Spaendonck-Zwarts, Ingrid A.W. van Rijsingen, Maarten P. van den Berg, Ronald H. Lekanne Deprez, Jan G. Post, Anneke M. van Mil, Folkert W. Asselbergs, Imke Christiaans, Irene M. van Langen, Arthur A.M. Wilde, Rudolf A. de Boer, Jan D.H. Jongbloed, Yigal M. Pinto and J. Peter van Tintelen

    Version of Record online : 27 JAN 2014, DOI: 10.1093/eurjhf/hft013

  4. Genetics of hypertrophic cardiomyopathy in Norway

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 355–360, K.E. Berge and T.P. Leren

    Version of Record online : 23 OCT 2013, DOI: 10.1111/cge.12286

  5. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 868–879, Phillipa J. Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Alexandru C. Barboi, Carsten Bonneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Y.K. Van den Bergh, Juan J. Vilchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige and Nigel G. Laing

    Version of Record online : 21 MAY 2014, DOI: 10.1002/humu.22553

  6. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

    Clinical Genetics

    Volume 64, Issue 4, October 2003, Pages: 339–349, J Erdmann, S Daehmlow, S Wischke, M Senyuva, U Werner, J Raible, N Tanis, S Dyachenko, M Hummel, R Hetzer and V Regitz-Zagrosek

    Version of Record online : 15 SEP 2003, DOI: 10.1034/j.1399-0004.2003.00151.x

  7. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 550–555, Anita E. Beck, Margaret J. McMillin, Heidi I.S. Gildersleeve, Phillip R. Kezele, Kathryn M. Shively, John C. Carey, Michael Regnier and Michael J. Bamshad

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35809

  8. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1687–1696, Laura Thomas, Mark Richards, Matthew Mort, Elaine Dunlop, David N. Cooper and Meena Upadhyaya

    Version of Record online : 6 AUG 2012, DOI: 10.1002/humu.22162

  9. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B

    Prenatal Diagnosis

    Volume 27, Issue 5, May 2007, Pages: 468–470, Miao Jiang, Chaoying Bian, Xuefu Li, Xiaohui Man, Wang Ge, Weitian Han, Haixia Bao, Yunqing Li, Dongxu Yi, Yanmin Guan and Jianxin Li

    Version of Record online : 22 MAR 2007, DOI: 10.1002/pd.1705

  10. Attenuation of MicroRNA-22 derepressed PTEN to effectively protect rat cardiomyocytes from hypertrophy

    Journal of Cellular Physiology

    Volume 227, Issue 4, April 2012, Pages: 1391–1398, Xu-Dong Xu, Xiao-Wei Song, Qing Li, Guo-Kun Wang, Qing Jing and Yong-Wen Qin

    Version of Record online : 11 JAN 2012, DOI: 10.1002/jcp.22852

  11. You have full text access to this OnlineOpen article
    Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy

    Journal of Cellular Physiology

    Volume 226, Issue 11, November 2011, Pages: 2894–2900, Roberta Roncarati, Michael V.G. Latronico, Beatrice Musumeci, Stefania Aurino, Annalaura Torella, Marie-Louise Bang, Gloria Saccani Jotti, Annibale A. Puca, Massimo Volpe, Vincenzo Nigro, Camillo Autore and Gianluigi Condorelli

    Version of Record online : 24 AUG 2011, DOI: 10.1002/jcp.22636

  12. You have free access to this content
    l-Arginine Attenuates Cardiac Dysfunction, But Further Down-Regulates α-Myosin Heavy Chain Expression in Isoproterenol-Induced Cardiomyopathy

    Basic & Clinical Pharmacology & Toxicology

    Volume 117, Issue 4, October 2015, Pages: 251–260, Eva Kralova, Gabriel Doka, Lenka Pivackova, Jasna Srankova, Kristina Kuracinova, Pavol Janega, Pavel Babal, Jan Klimas and Peter Krenek

    Version of Record online : 2 MAY 2015, DOI: 10.1111/bcpt.12405

  13. Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin

    Human Mutation

    Volume 32, Issue 2, February 2011, Pages: 191–197, Stefan Welti, Sonja Kühn, Igor D'Angelo, Britta Brügger, Dieter Kaufmann and Klaus Scheffzek

    Version of Record online : 18 JAN 2011, DOI: 10.1002/humu.21405

  14. Asymptotic Localization of Energy in Nondisordered Oscillator Chains

    Communications on Pure and Applied Mathematics

    Volume 68, Issue 9, September 2015, Pages: 1532–1568, Wojciech De Roeck and François Huveneers

    Version of Record online : 17 DEC 2014, DOI: 10.1002/cpa.21550

  15. You have full text access to this OnlineOpen article
    Time course and side-by-side analysis of mesodermal, pre-myogenic, myogenic and differentiated cell markers in the chicken model for skeletal muscle formation

    Journal of Anatomy

    Volume 227, Issue 3, September 2015, Pages: 361–382, Federica Berti, Júlia Meireles Nogueira, Svenja Wöhrle, Débora Rodrigues Sobreira, Katarzyna Hawrot and Susanne Dietrich

    Version of Record online : 17 AUG 2015, DOI: 10.1111/joa.12353

  16. You have full text access to this Open Access content
    Analysis of 8 Sarcomeric Candidate Genes for Feline Hypertrophic Cardiomyopathy Mutations in Cats with Hypertrophic Cardiomyopathy

    Journal of Veterinary Internal Medicine

    Volume 23, Issue 4, July/August 2009, Pages: 840–843, K.M. Meurs, M.M. Norgard, M. Kuan, J. Haggstrom and M. Kittleson

    Version of Record online : 26 JUN 2009, DOI: 10.1111/j.1939-1676.2009.0341.x

  17. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3187–3190, Audra L. Bettinelli, Theodorus J. Mulder, Birgit H. Funke, Katherine A. Lafferty, Sherri A. Longo and Dmitriy M. Niyazov

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36182

  18. A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 91–101, G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabrò, M Iacomino, N Detta, LM Di Fonzo, V Maddaloni, R Calabrò and F Salvatore

    Version of Record online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01190.x

  19. You have free access to this content
    Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy

    Ultrasound in Obstetrics & Gynecology

    Volume 41, Issue 3, March 2013, Pages: 336–339, Y. M. Hoedemaekers, T. E. Cohen-Overbeek, I. M. E. Frohn-Mulder, D. Dooijes and D. F. Majoor-Krakauer

    Version of Record online : 4 MAR 2013, DOI: 10.1002/uog.12279

  20. Reliable determination of training-induced alterations in muscle fiber composition in human skeletal muscle using quantitative polymerase chain reaction

    Scandinavian Journal of Medicine & Science in Sports

    Volume 24, Issue 5, October 2014, Pages: e332–e342, S. Ellefsen, O. Vikmoen, E. Zacharoff, I. Rauk, G. Slettaløkken, D. Hammarström, T. A. Strand, J. E. Whist, M. Hanestadhaugen, G. Vegge, C. E. Fagernes, H. Nygaard, I. Hollan and B. R. Rønnestad

    Version of Record online : 20 FEB 2014, DOI: 10.1111/sms.12185