194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8-10 December 2012, Naarden, The Netherlands

被引:14
作者
Aartsma-Rus, Annemieke [1 ]
Muntoni, Francesco [2 ,3 ]
机构
[1] Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZA Leiden, Netherlands
[2] Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
[3] Great Ormond St Hosp Sick Children, London WC1N 1EH, England
基金
英国医学研究理事会;
关键词
CARDIAC-MUSCLE; RESTORATION; EXPRESSION;
D O I
10.1016/j.nmd.2013.06.369
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:934 / 944
页数:11
相关论文
共 30 条
[1]   Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule [J].
Aartsma-Rus, Annemieke ;
Van Deutekom, Judith C. T. ;
Fokkema, Ivo F. ;
Van Ommen, Gert-Jan B. ;
Den Dunnen, Johan T. .
MUSCLE & NERVE, 2006, 34 (02) :135-144
[2]   Antisense-mediated modulation of splicing Therapeutic implications for duchenne muscular dystrophy [J].
Aartsma-Rus, Annemieke .
RNA BIOLOGY, 2010, 7 (04) :453-461
[3]   Theoretic Applicability of Antisense-Mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations [J].
Aartsma-Rus, Annemieke ;
Fokkema, Ivo ;
Verschuuren, Jan ;
Ginjaar, Leke ;
van Deutekom, Judith ;
van Ommen, Gert-Jan ;
den Dunnen, Johan T. .
HUMAN MUTATION, 2009, 30 (03) :293-299
[4]   Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials [J].
Anthony, Karen ;
Cirak, Sebahattin ;
Torelli, Silvia ;
Tasca, Giorgio ;
Feng, Lucy ;
Arechavala-Gomeza, Virginia ;
Armaroli, Annarita ;
Guglieri, Michela ;
Straathof, Chiara S. ;
Verschuuren, Jan J. ;
Aartsma-Rus, Annemieke ;
Helderman-van den Enden, Paula ;
Bushby, Katherine ;
Straub, Volker ;
Sewry, Caroline ;
Ferlini, Alessandra ;
Ricci, Enzo ;
Morgan, Jennifer E. ;
Muntoni, Francesco .
BRAIN, 2011, 134 :3544-3556
[5]   Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression [J].
Arechavala-Gomeza, V. ;
Kinali, M. ;
Feng, L. ;
Brown, S. C. ;
Sewry, C. ;
Morgan, J. E. ;
Muntoni, F. .
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2010, 36 (04) :265-274
[6]   Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [J].
Arechavala-Gomeza, Virginia ;
Kinali, Maria ;
Feng, Lucy ;
Guglieri, Michela ;
Edge, Geraldine ;
Main, Marion ;
Hunt, David ;
Lehovsky, Jan ;
Straub, Volker ;
Bushby, Kate ;
Sewry, Caroline A. ;
Morgan, Jennifer E. ;
Muntoni, Francesco .
NEUROMUSCULAR DISORDERS, 2010, 20 (05) :295-301
[7]   Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care [J].
Bushby, Katharine ;
Finkel, Richard ;
Birnkrant, David J. ;
Case, Laura E. ;
Clemens, Paula R. ;
Cripe, Linda ;
Kaul, Ajay ;
Kinnett, Kathi ;
McDonald, Craig ;
Pandya, Shree ;
Poysky, James ;
Shapiro, Frederic ;
Tomezsko, Jean ;
Constantin, Carolyn .
LANCET NEUROLOGY, 2010, 9 (02) :177-189
[8]   Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management [J].
Bushby, Katharine ;
Finkel, Richard ;
Birnkrant, David J. ;
Case, Laura E. ;
Clemens, Paula R. ;
Cripe, Linda ;
Kaul, Ajay ;
Kinnett, Kathi ;
McDonald, Craig ;
Pandya, Shree ;
Poysky, James ;
Shapiro, Frederic ;
Tomezsko, Jean ;
Constantin, Carolyn .
LANCET NEUROLOGY, 2010, 9 (01) :77-93
[9]   Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study [J].
Cirak, Sebahattin ;
Arechavala-Gomeza, Virginia ;
Guglieri, Michela ;
Feng, Lucy ;
Torelli, Silvia ;
Anthony, Karen ;
Abbs, Stephen ;
Garralda, Maria Elena ;
Bourke, John ;
Wells, Dominic J. ;
Dickson, George ;
Wood, Matthew J. A. ;
Wilton, Steve D. ;
Straub, Volker ;
Kole, Ryszard ;
Shrewsbury, Stephen B. ;
Sewry, Caroline ;
Morgan, Jennifer E. ;
Bushby, Kate ;
Muntoni, Francesco .
LANCET, 2011, 378 (9791) :595-605
[10]   Perindopril preventive treatment on mortality in Duchenne muscular dystrophy:: 10 years' follow-up [J].
Duboc, Denis ;
Meune, Christophe ;
Pierre, Bertrand ;
Wahbi, Karim ;
Eymard, Bruno ;
Toutain, Annick ;
Berard, Carole ;
Vaksmann, Guy ;
Weber, Simon ;
Becane, Henri-Marc .
AMERICAN HEART JOURNAL, 2007, 154 (03) :596-602