Publications

2011

Van Putten M and Aartsma-Rus A: Opportunities and challenges for the development of antisense treatment in neuromuscular disorders. Exp Opin Biol Ther 2011; April 22 epub
Abstract

Kemeladewi DU, Hoogaars WM, van Heiningen SH...Aartsma-Rus A, ten Dijke P and ’t Hoen PA: Dual exon skipping for myostatin and dystrophin for Duchenne muscular dystrophy. BMC Med Genomics 2011; 4: 36
Abstract  Link to paper ^{open access!}

Goemans N, Tulinius M, van den Akker JT…..Aartsma-Rus A…and van Deutekom JCT: Systemic administration of PRO051 in Duchenne’s muscular dystrophy. N Engl J Med 2011; epub March 23
Abstract  

2010   

Aartsma-Rus A, den Dunnen JT and van Ommen GJB: New insights in gene-derived therapies: the example of Duchenne Muscular Dystrophy. Annals of NY Acad Sci 2010; epub Dec 1
Abstract

Aartsma-Rus A: The risks of therapeutic misconception and individual patient (n=1) "trials" in rare diseases such as Duchenne dystrophy. Neuromuscular Disorders 2010; epub Nov 3
Abstract

Shi ST, Hoogaars WM,  De Gorter DJ, Van Heiningen SH....Kemaladewi DU, Aartsma-Rus A, Ten Dijke P and 't Hoen PAC: BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model. Neurobiol Dis 2010; Oct 15 epub
Abstract

Aartsma-Rus A: Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy. RNA Biology 2010; July 3 epub
Abstract

Heemskerk JA, de Winter CL, van Kuik P….Aartsma-Rus A, and van Deutekom JCT: Pre-clinical PK and PD Studies on 2’O-Methyl-Phosphorothioate RNA Antisense Oligonucleotides in the mdx mouse model. Mol Ther 2010; 18: 1210-7
Abstract    Link to paper ^{open access!}

Aartsma-Rus A, Houlleberghs H, van Deutekom JCT, van Ommen G-J and 't Hoen PAC: Exon-targeting antisense oligonucleotides outperform splice site targeting antisense oligonucleotides in the modulation of DMD splicing. Oligonucleotides 2010; 20: 69-77
Abstract

Van Putten M, Winter CL, van Roon-Mom W, van Ommen G-JB, 't Hoen PAC and Aartsma-Rus A: A mild exercise regime does not affect disease parameters in the mdx mouse. Neuromuscular Disorders 2010; 20: 273-80
Abstract

Aartsma-Rus A and van Ommen GJB. 2010. Antisense-mediated exon skipping for Duchenne muscular dystrophy. In Muscle Gene Therapy (Ed Duan, D) Springer New York Dordrecht Heidelberg London. (ISBN: 978-1-4419-1205-3).  

    Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A et al: Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscular Disorders 2010; 20: 251-4
Abstract

    Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, Dunnen JT, van der Maarel SM: Therapeutic exon skipping for dysferlinopathies? European Journal of Human Genetics; Feb 10 epub.
Abstract

     Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A et al: Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials. Neuromuscular Disorders 2010; 20: 102-110.
Abstract

Aartsma-Rus A and van Ommen GJB: Progress in therapeutic antisense applications for neuromuscular disorders. European Journal of Human Genetics 2010; 18: 146-53.
Abstract

2009

Heemskerk JA, de Winter CL, van Ommen G-J, van Deutekom JCT and Aartsma-Rus A: Development of antisense-mediated exon skipping as a treatment for Duchenne muscular dystrophy. Annals of the NY Acad Science 2009; 1175: 71-9.
Abstract

Aartsma-Rus A and van Ommen G-JB: Less is more: therapeutic exon skipping for Duchenne muscular dystrophy. Lancet Neurology 2009; August 25 epub
Abstract

Aartsma-Rus A, Fokkema I, Verschuuren J et al. : Applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human Mutation 2009; 30:293-9
Abstract Full text

Heemskerk JA, de Winter CL, De Kimpe S et al. In vivo comparison of 2'O-methyl-PS and morpholino antisense oligonucleotides for DMD exon skipping. J Gene Med 2009; 11: 257-66
Abstract

2008

Van Vliet L, de Winter CL, van Deutekom JCT et al. Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy. BMC Med Genet 2008, 9: 105
Abstract Full text article ^{Highly accessed open access article!}

Aartsma-Rus A, van Vliet L, Hirschi M et al. : Guidelines for antisense oligonucleotide design and insight in splice modulating mechanisms. Mol Ther 2008; 23 Sept epub
Abstract

Van Ommen G-JB, Van Deutekom JCT and Aartsma-Rus A. The therapeutic potential of antisense-mediated exon skipping. Curr Opin Mol Ther 2008; 10: 140-9
Abstract

Aartsma-Rus A and van Deutekom JCT. Antisense-mediated reading-frame restoration as a genetic therapy for Duchenne muscular dystrophy. In Antisense elements (genetics) Editor A.G. Hernandes, Novapublishers, Hauppauge, NY (ISBN 1-60021-491-6).
Link to publisher Request for PDF

2007

Van Deutekom JCT, Janson AM, Ginjaar HB et al.: Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-86 ^{Reports results of the first clinical trial on exon skipping in Duchenne patients!}
Abstract Press release from Prosensa and LUMC Link to editorial from Eric Hoffman

De Winter CL and Aartsma-Rus A: RNA-therapie voor de ziekte van Duchenne, Minder is meer. Analyse 2007; 07: 192-196. ^{In Dutch!}
This paper received the Anna Wichersprijs for best Analyse paper in 2007-2008 (1st prize).
Link to NVML PDF (kindly provided by the Dutch association of medical technicians (NVML))

Aartsma-Rus A and van Ommen G-J. Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications. RNA 2007; 13: 1609-24.
Abstract Full text ^{Free full text!}

Aartsma-Rus A, Janson AM, van Ommen G-J et al.: Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy. BMC Med Genet 2007; 8: 43
Abstract Full text ^{Highly accessed open access article!}

2006

Aartsma-Rus A, Janson AM, Heemskerk JA et al.: Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides. Ann NY Acad Sci 2006; 1082: 74-76
Abstract Full text

Aartsma-Rus A, Kaman WE, Weij R, et al.: Exploring the frontiers of therapeutic exon skipping for Duchenne Muscular Dystrophy by double targeting within one or multiple exons. Molecular Therapy 2006; 14:401-407
Abstract Full text

Aartsma-Rus A, van Deutekom JCT, Fokkema IF, et al.: Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006; 34: 135-44
Abstract Full text

't Hoen PAC, Wees CGC, Aartsma-Rus A et al. : Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchene Muscular Dystrophy. Pharmaco Genomics 2006; 7:281-297
Abstract Full text ^{Free full text!}

2005

Van Deutekom JC: The 'pro-sense' approach to Duchenne muscular dystrophy. Eur J Hum Genet. 2005; 13:518-519
Abstract Full text ^{Free full text!}

Aartsma-Rus A, de Winter CL, Janson AM, et al: Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides 2005; 15: 284 -297
Abstract Full text

2004

Aartsma-Rus A, Janson AA, Kaman WE et al: Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 2004; 74: 83-92
Abstract Full text PDF ^{Free full text!}

Aartsma-Rus A, Kaman WE, Bremmer-Bout M et al: Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther 2004; 11: 1391-1398
Abstract Full text

Bremmer-Bour M, Aartsma-Rus A, de Meijer EJ et al: Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther 2004; 10: 232-240
Abstract Full text

2003

Van Deutekom JC, van Ommen GJ: Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet 2003; 4: 774-783
Abstract Full text

Aartsma-Rus A, Janson AA, Kaman WE et al: Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet 2003; 12: 907-914
Abstract Full text ^{Free full text!}

2002

Aartsma-Rus A, Bremmer-Bout M, Janson A et al: Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 2002; 12 Suppl: S71-S77
Abstract Full text  

2001

Van Deutekom JC, Bremmer-Bout M, Janson AA et al: Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet 2001; 10: 1547-1554
Abstract Full text ^{Free full text!}