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There are 28449 results for: content related to: Expression of multiple nebulin isoforms in human skeletal muscle and brain

  1. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1418–1426, Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas L. Winder, Katarina Pelin and Carina Wallgren-Pettersson

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22693

  2. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

    Human Mutation

    Volume 27, Issue 9, September 2006, Pages: 946–956, Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Laing and Carina Wallgren-Pettersson

    Article first published online : 17 AUG 2006, DOI: 10.1002/humu.20370

  3. Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy

    Muscle & Nerve

    Volume 25, Issue 5, May 2002, Pages: 747–752, J. Gurgel-Giannetti, M.-L. Bang, U. Reed, S. Marie, M. Zatz, S. Labeit and M. Vainzof

    Article first published online : 11 MAR 2002, DOI: 10.1002/mus.10097

  4. Congenital myopathies: diseases of the actin cytoskeleton

    The Journal of Pathology

    Volume 204, Issue 4, November 2004, Pages: 407–417, Emilie Clarkson, Celine F Costa and Laura M Machesky

    Article first published online : 19 OCT 2004, DOI: 10.1002/path.1648

  5. You have free access to this content
    Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

    The EMBO Journal

    Volume 25, Issue 16, August 23, 2006, Pages: 3843–3855, Christian C Witt, Christoph Burkart, Dietmar Labeit, Mark McNabb, Yiming Wu, Henk Granzier and Siegfried Labeit

    Article first published online : 10 AUG 2006, DOI: 10.1038/sj.emboj.7601242

  6. Congenital myopathies at their molecular dawning

    Muscle & Nerve

    Volume 27, Issue 5, May 2003, Pages: 527–548, Hans H. Goebel

    Article first published online : 4 MAR 2003, DOI: 10.1002/mus.10322

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    Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

    Human Mutation

    Volume 30, Issue 9, September 2009, Pages: 1267–1277, Nigel G. Laing, Danielle E. Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas L. Winder, Hanns Lochmüller, Claudio Graziano, Stella Mitrani-Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs and Kristen J. Nowak

    Article first published online : 9 JUN 2009, DOI: 10.1002/humu.21059

  8. Molecular Genetics of Nemaline Myopathy

    Standard Article

    eLS

    Sarah A Sandaradura and Kathryn N North

    Published Online : 17 DEC 2012, DOI: 10.1002/9780470015902.a0024341

  9. You have full text access to this OnlineOpen article
    Dynamic regulation of sarcomeric actin filaments in striated muscle

    Cytoskeleton

    Volume 67, Issue 11, November 2010, Pages: 677–692, Shoichiro Ono

    Article first published online : 21 SEP 2010, DOI: 10.1002/cm.20476

  10. When contractile proteins go bad: the sarcomere and skeletal muscle disease

    BioEssays

    Volume 27, Issue 8, August 2005, Pages: 809–822, Nigel G. Laing and Kristen J. Nowak

    Article first published online : 13 JUL 2005, DOI: 10.1002/bies.20269

  11. Nebulin: Nemaline Myopathies and Associated Disorders

    Muscle Disease: Pathology and Genetics, Second edition

    Carina Wallgren-Pettersson, Hannu Kalimo, Martin Lammens, Pages: 152–156, 2013

    Published Online : 8 JUL 2013, DOI: 10.1002/9781118635469.ch15

  12. Congenital Myopathies

    Brain Pathology

    Volume 11, Issue 2, April 2001, Pages: 206–217, Antje Bornemann and Hans H. Goebel

    Article first published online : 5 APR 2006, DOI: 10.1111/j.1750-3639.2001.tb00393.x

  13. Nemaline myopathy type 6: Clinical and myopathological features

    Muscle & Nerve

    Volume 42, Issue 6, December 2010, Pages: 901–907, Montse Olivé, Lev G. Goldfarb, Hee-Suk Lee, Zagaa Odgerel, Andre Blokhin, Laura Gonzalez-Mera, Dolores Moreno, Nigel G. Laing and Nyamkhishig Sambuughin

    Article first published online : 22 NOV 2010, DOI: 10.1002/mus.21788

  14. Nebulin

    Standard Article

    Encyclopedia Of Molecular Medicine

    Katarina Pelin, S. Labeit and Carina Wallgren-Pettersson

    Published Online : 15 JAN 2002, DOI: 10.1002/0471203076.emm0031

  15. Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

    Prenatal Diagnosis

    Volume 32, Issue 1, January 2012, Pages: 70–74, Hagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, Shlomit Eisenberg-Barzilai, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Lakshmi Mehta, Reuven Achiron, Yinon Gilboa, Sylvie Polak-Charcon, Thomas Winder, Moshe Frydman and Elon Pras

    Article first published online : 24 FEB 2012, DOI: 10.1002/pd.2905

  16. Lasp-2 expression, localization, and ligand interactions: A new Z-disc scaffolding protein

    Cell Motility and the Cytoskeleton

    Volume 65, Issue 1, January 2008, Pages: 59–72, Anke Zieseniss, Asako G. Terasaki and Carol C. Gregorio

    Article first published online : 29 OCT 2007, DOI: 10.1002/cm.20244

  17. Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations

    Annals of Neurology

    Volume 56, Issue 1, July 2004, Pages: 86–96, Pankaj B. Agrawal, Corinne D. Strickland, Charles Midgett, Ana Morales, Daniel E. Newburger, Melisa A. Poulos, Kinga K. Tomczak, Monique M. Ryan, Susan T. Iannaccone, Tom O. Crawford, Nigel G. Laing and Alan H. Beggs

    Article first published online : 28 JUN 2004, DOI: 10.1002/ana.20157

  18. Nemaline myopathy: A clinical study of 143 cases

    Annals of Neurology

    Volume 50, Issue 3, September 2001, Pages: 312–320, Monique M. Ryan, Christina Schnell, Corinne D. Strickland, Lloyd K. Shield, Graeme Morgan, Susan T. Iannaccone, Nigel G. Laing, Alan H. Beggs and Kathryn N. North

    Article first published online : 25 MAY 2001, DOI: 10.1002/ana.1080

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    Tropomodulins: Pointed-end capping proteins that regulate actin filament architecture in diverse cell types

    Cytoskeleton

    Volume 69, Issue 6, June 2012, Pages: 337–370, Sawako Yamashiro, David S. Gokhin, Sumiko Kimura, Roberta B. Nowak and Velia M. Fowler

    Article first published online : 4 MAY 2012, DOI: 10.1002/cm.21031

  20. Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

    Annals of Neurology

    Volume 51, Issue 2, February 2002, Pages: 224–234, Duygu Selcen, Bruce R. Krueger and Andrew G. Engel

    Article first published online : 31 JAN 2002, DOI: 10.1002/ana.10096