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There are 12370 results for: content related to: Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

  1. Macrophages: A minimally invasive tool for monitoring collagen VI myopathies

    Muscle & Nerve

    Volume 44, Issue 1, July 2011, Pages: 80–84, Francesca Gualandi, Rosa Curci, Patrizia Sabatelli, Elena Martoni, Matteo Bovolenta, Mario N. Maraldi, Luciano Merlini and And Alessandra Ferlini

    Version of Record online : 12 APR 2011, DOI: 10.1002/mus.21999

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    New insights into the pathobiology of Down syndrome – hyaluronan synthase-2 overexpression is regulated by collagen VI α2 chain

    The FEBS Journal

    Volume 280, Issue 10, May 2013, Pages: 2418–2430, Evgenia Karousou, Xanthi Stachtea, Paola Moretto, Manuela Viola, Davide Vigetti, Maria Luisa D'Angelo, Luigi Raio, Fabio Ghezzi, Francesco Pallotti, Giancarlo De Luca, Nikos K. Karamanos and Alberto Passi

    Version of Record online : 28 MAR 2013, DOI: 10.1111/febs.12220

  3. Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1558–1567, Russell J. Butterfield, A. Reghan Foley, Jahannaz Dastgir, Stephanie Asman, Diane M. Dunn, Yaqun Zou, Ying Hu, Sandra Donkervoort, Kevin M. Flanigan, Kathryn J. Swoboda, Thomas L. Winder, Robert B. Weiss and Carsten G. Bönnemann

    Version of Record online : 9 OCT 2013, DOI: 10.1002/humu.22429

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    Novel mutations identified in patients with a mild phenotype of Ullrich congenital muscular dystrophy through targeted next-generation sequencing

    Neurology and Clinical Neuroscience

    Volume 1, Issue 4, July 2013, Pages: 148–153, Jun-Hui Yuan, Itsuro Higuchi, Yusuke Sakiyama, Yukie Inamori, Eiji Matsuura, Yujiro Higuchi, Akiko Yoshimura, Ryuji Saigo, Akihiro Hashiguchi, Keiko Higashi, Kimiyoshi Arimura and Hiroshi Takashima

    Version of Record online : 26 AUG 2013, DOI: 10.1111/ncn3.43

  5. Frameshift mutation in the collagen VI gene causes Ullrich's disease

    Annals of Neurology

    Volume 50, Issue 2, August 2001, Pages: 261–265, Itsuro Higuchi, Tadafumi Shiraishi, Teruto Hashiguchi, Masahito Suehara, Takahito Niiyama, Masanori Nakagawa, Kimiyoshi Arimura, Ikuro Maruyama and Mitsuhiro Osame

    Version of Record online : 28 JUN 2001, DOI: 10.1002/ana.1120

  6. Early onset collagen VI myopathies: Genetic and clinical correlations

    Annals of Neurology

    Volume 68, Issue 4, October 2010, Pages: 511–520, Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Emmanuelle Lacène, Samira Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloglu, Göknur Haliloglu, Isabelle Pénisson-Besnier, Pierre-Yves Jeannet, Luciano Merlini, Carmen Navarro, Annick Toutain, Denys Chaigne, Isabelle Desguerre, Christine de Die-Smulders, Murielle Dunand, Bernard Echenne, Bruno Eymard, Thierry Kuntzer, Kim Maincent, Michèle Mayer, Ghislaine Plessis, François Rivier, Filip Roelens, Tanya Stojkovic, Ana Lía Taratuto, Fabiana Lubieniecki, Soledad Monges, Christine Tranchant, Louis Viollet, Norma B. Romero, Brigitte Estournet, Pascale Guicheney and Valérie Allamand

    Version of Record online : 25 OCT 2010, DOI: 10.1002/ana.22087

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    Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance

    Neurology and Clinical Neuroscience

    Volume 4, Issue 5, September 2016, Pages: 189–191, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Hiroshi Shoji, Yojiro Arimori, Takafumi Matsumoto, Jun Shimizu and Shoji Tsuji

    Version of Record online : 13 JUL 2016, DOI: 10.1111/ncn3.12068

  8. Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

    Muscle & Nerve

    Volume 38, Issue 3, September 2008, Pages: 1192–1195, Genri Kawahara, Megumu Ogawa, Mari Okada, May Christine V. Malicdan, Yu-Ichi Goto, Yukiko K. Hayashi, Satoru Noguchi and Ichizo Nishino

    Version of Record online : 18 JUL 2008, DOI: 10.1002/mus.21030

  9. Molecular consequences of dominant Bethlem myopathy collagen VI mutations

    Annals of Neurology

    Volume 62, Issue 4, October 2007, Pages: 390–405, Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard Jacobson, Ros C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman and Shireen R. Lamandé

    Version of Record online : 20 SEP 2007, DOI: 10.1002/ana.21213

  10. Nrf2/Maf-binding-site-containing functional Cyp6a2 allele is associated with DDT resistance in Drosophila melanogaster

    Pest Management Science

    Volume 70, Issue 7, July 2014, Pages: 1048–1058, Hua Wan, Yan Liu, Mei Li, Shunyi Zhu, Xianchun Li, Barry R Pittendrigh and Xinghui Qiu

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ps.3645

  11. Reduced expression of collagen VI alpha 3 (COL6A3) confers resistance to inflammation-induced MCP1 expression in adipocytes

    Obesity

    Volume 24, Issue 8, August 2016, Pages: 1695–1703, Stephane Gesta, Kalyani Guntur, Ishita Deb Majumdar, Syamala Akella, Vivek K. Vishnudas, Rangaprasad Sarangarajan and Niven R. Narain

    Version of Record online : 17 JUN 2016, DOI: 10.1002/oby.21565

  12. Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 48–56, Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol C. Voermans, A. Reghan Foley, Meganne E. Leach, Jahannaz Dastgir, Véronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B. Schindler, Erik-Jan Kamsteeg, Pascale Richard, Russell J. Butterfield, Thomas L. Winder, Thomas O. Crawford, Robert B. Weiss, Francesco Muntoni, Valérie Allamand and Carsten G. Bönnemann

    Version of Record online : 30 DEC 2014, DOI: 10.1002/humu.22691

  13. You have full text access to this OnlineOpen article
    Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 283–301, Jesse M. Hunter, Mary Ellen Ahearn, Christopher D. Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John Carpten, Stephen W. Coons, Daphne E. DeMello, Judith G. Hall, Saunder M. Bernes and Lisa Baumbach-Reardon

    Version of Record online : 8 APR 2015, DOI: 10.1002/mgg3.142

  14. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

    Human Mutation

    Volume 29, Issue 6, June 2008, Pages: 809–822, A.K. Lampe, Y. Zou, D. Sudano, K.K. O'Brien, D. Hicks, S.H. Laval, R. Charlton, C. Jimenez-Mallebrera, R.-Z. Zhang, R.S. Finkel, G. Tennekoon, G. Schreiber, M.S. van der Knaap, H. Marks, V. Straub, K.M. Flanigan, M.-L. Chu, F. Muntoni, K.M.D. Bushby and C.G. Bönnemann

    Version of Record online : 25 MAR 2008, DOI: 10.1002/humu.20704

  15. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

    Muscle & Nerve

    Volume 25, Issue 4, April 2002, Pages: 513–519, Olga Camacho Vanegas, Rui-Zhu Zhang, Patrizia Sabatelli, Giovanna Lattanzi, Paola Bencivenga, Betti Giusti, Marta Columbaro, Mon-Li Chu, Luciano Merlini and Guglielmina Pepe

    Version of Record online : 27 FEB 2002, DOI: 10.1002/mus.10100

  16. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10-N7 domains

    Journal of Cellular Physiology

    Volume 206, Issue 1, January 2006, Pages: 160–166, Stefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, Pascale Guicheney, Ercan Demir, Luciano Merlini, Giovanna Lattanzi, Andrea Ognibene, Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, Paolo Bonaldo and Nadir Mario Maraldi

    Version of Record online : 17 JUN 2005, DOI: 10.1002/jcp.20443

  17. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  18. Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies

    Annals of the New York Academy of Sciences

    Volume 1147, Issue 1, December 2008, Pages: 303–311, Paolo Bernardi and Paolo Bonaldo

    Version of Record online : 8 DEC 2008, DOI: 10.1196/annals.1427.009

  19. Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

    Pediatrics International

    Volume 50, Issue 4, August 2008, Pages: 597–599, Masanori Egashira, 1 Tatsuro Kondoh, 1 Hiroki Kawara, 2 Hideki Motomura, 1 Masato Tagawa, 1 Naoki Harada and 24 Hiroyuki Moriuchi 1

    Version of Record online : 25 AUG 2008, DOI: 10.1111/j.1442-200X.2008.02680.x

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    Inhibition of endotrophin, a cleavage product of collagen VI, confers cisplatin sensitivity to tumours

    EMBO Molecular Medicine

    Volume 5, Issue 6, June 2013, Pages: 935–948, Jiyoung Park, Thomas S. Morley and Philipp E. Scherer

    Version of Record online : 30 APR 2013, DOI: 10.1002/emmm.201202006