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1-3 of 3
Keywords: Nemaline myopathy
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Journal Articles
Daniel L. Yamamoto, Carmen Vitiello, Jianlin Zhang, David S. Gokhin, Alessandra Castaldi, Gerald Coulis, Fabio Piaser, Maria Carmela Filomena, Peter J. Eggenhuizen, Paolo Kunderfranco, Serena Camerini, Kazunori Takano, Takeshi Endo, Marco Crescenzi, Pradeep K. L. Luther, Richard L. Lieber, Ju Chen, Marie-Louise Bang
Journal:
Journal of Cell Science
J Cell Sci (2013) 126 (23): 5477–5489.
Published: 1 December 2013
...; Marie-Louise Bang Summary Nemaline myopathy (NM) is a congenital myopathy with an estimated incidence of 1∶50,000 live births. It is caused by mutations in thin filament components, including nebulin, which accounts for about 50% of the cases. The identification of NM cases with nonsense mutations...
Includes: Supplementary data
Journal Articles
Paola Tonino, Christopher T. Pappas, Bryan D. Hudson, Siegfried Labeit, Carol C. Gregorio, Henk Granzier
Journal:
Journal of Cell Science
J Cell Sci (2010) 123 (3): 384–391.
Published: 1 February 2010
.... , Donner K. , Marie S. K. , Carvalho M. , Fireman M. A. , Zanoteli E. , Oliveira A. S. , et al . ( 2001 ). Nebulin expression in patients with nemaline myopathy . Neuromuscul. Disord. 11 , 154 - 162 . Konieczny P. , Fuchs P. , Reipert S. , Kunz W...
Includes: Supplementary data
Journal Articles
Céline F. Costa, Heidi Rommelaere, Davy Waterschoot, Kamaljit K. Sethi, Kristen J. Nowak, Nigel G. Laing, Christophe Ampe, Laura M. Machesky
Journal:
Journal of Cell Science
J Cell Sci (2004) 117 (15): 3367–3377.
Published: 1 July 2004
... of Geneva, 1211 Geneva 4, Switzerland ‡ Present address: Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK 23 2 2004 © The Company of Biologists Limited 2004 2004 Actin Nemaline myopathy Actin polymerization Protein folding...