Literature DB >> 23890933

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.

Annemieke Aartsma-Rus1, Francesco Muntoni.   

Abstract

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Year:  2013        PMID： 23890933     DOI： 10.1016/j.nmd.2013.06.369

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  11 in total

Review 1.  Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.

Authors:  Elisabeth Le Rumeur
Journal:  Bosn J Basic Med Sci       Date:  2015-07-20       Impact factor: 3.363

2.  Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.

Authors:  Leonit Kiriaev; Peter J Houweling; Kathryn N North; Stewart I Head
Journal:  Hum Mol Genet       Date:  2022-05-04       Impact factor: 5.121

Review 3.  Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy.

Authors:  David G Allen; Nicholas P Whitehead; Stanley C Froehner
Journal:  Physiol Rev       Date:  2016-01       Impact factor: 37.312

4.  Circulating Biomarkers for Duchenne Muscular Dystrophy.

Authors:  Annemieke Aartsma-Rus; Pietro Spitali
Journal:  J Neuromuscul Dis       Date:  2015-07-22

5.  Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Authors:  A Lourbakos; N Yau; P de Bruijn; M Hiller; K Kozaczynska; R Jean-Baptiste; M Reza; R Wolterbeek; Z Koeks; B Ayoglu; D de Klerk; G Campion; I Zaharieva; V D Nadarajah; P Nilsson; C Al-Khalili Szigyarto; F Muntoni; H Lochmüller; J J Verschuuren; N Goemans; M Tulinius; E H Niks; S de Kimpe; A Aartsma-Rus; Peter A C 't Hoen; P Spitali
Journal:  Sci Rep       Date:  2017-12-20       Impact factor: 4.379

6.  GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.

Authors:  Erik van der Wal; Atze J Bergsma; Tom J M van Gestel; Stijn L M In 't Groen; Holm Zaehres; Marcos J Araúzo-Bravo; Hans R Schöler; Ans T van der Ploeg; W W M Pim Pijnappel
Journal:  Mol Ther Nucleic Acids       Date:  2017-03-14

7.  Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.

Authors:  Kenji Rowel Q Lim; Quynh Nguyen; Toshifumi Yokota
Journal:  J Pers Med       Date:  2020-11-23

8.  Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Authors:  Chiara Scotton; Matteo Bovolenta; Elena Schwartz; Maria Sofia Falzarano; Elena Martoni; Chiara Passarelli; Annarita Armaroli; Hana Osman; Carmelo Rodolico; Sonia Messina; Elena Pegoraro; Adele D'Amico; Enrico Bertini; Francesca Gualandi; Marcella Neri; Rita Selvatici; Patrizia Boffi; Maria Antonietta Maioli; Hanns Lochmüller; Volker Straub; Katherine Bushby; Tiziana Castrignanò; Graziano Pesole; Patrizia Sabatelli; Luciano Merlini; Paola Braghetta; Paolo Bonaldo; Paolo Bernardi; Reghan Foley; Sebahattin Cirak; Irina Zaharieva; Francesco Muntoni; Daniele Capitanio; Cecilia Gelfi; Ekaterina Kotelnikova; Anton Yuryev; Michael Lebowitz; Xiping Zhang; Brian A Hodge; Karyn A Esser; Alessandra Ferlini
Journal:  J Cell Sci       Date:  2016-03-04       Impact factor: 5.285

Review 9.  Development of therapeutic splice-switching oligonucleotides.

Authors:  Petra Disterer; Adrianna Kryczka; Yuqi Liu; Yusef E Badi; Jessie J Wong; James S Owen; Bernard Khoo
Journal:  Hum Gene Ther       Date:  2014-06-19       Impact factor: 5.695

10.  Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.

Authors:  Luz Berenice López-Hernández; Benjamín Gómez-Díaz; Alexandra Berenice Luna-Angulo; Mónica Anaya-Segura; David John Bunyan; Carolina Zúñiga-Guzman; Rosa Elena Escobar-Cedillo; Bladimir Roque-Ramírez; Luis Angel Ruano-Calderón; Héctor Rangel-Villalobos; Julia Angélica López-Hernández; Francisco Javier Estrada-Mena; Silvia García; Ramón Mauricio Coral-Vázquez
Journal:  Int J Mol Sci       Date:  2015-03-09       Impact factor: 5.923
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