Annemieke Aartsma-Rus

Department of Human Genetics, Leiden University Medical Center

Affiliated withLeiden University Medical Center Leiden University Medical Center

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Behavior

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JoVE Journal Publications

Article Total : 1	Year
Publication title	2014

Other Publications

Article	Year
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscular disorders : NMD\| PubMed ID: 12206800	2002
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Human molecular genetics\| PubMed ID: 12668614	2003
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. American journal of human genetics\| PubMed ID: 14681829	2004
Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 15294170	2004
Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides\| PubMed ID: 16396622	2005
Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy. Pharmacogenomics\| PubMed ID: 16610940	2006
Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 16753346	2006
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\| PubMed ID: 16770791	2006
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy. BMC medical genetics\| PubMed ID: 17612397	2007
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA (New York, N.Y.)\| PubMed ID: 17684229	2007
Local dystrophin restoration with antisense oligonucleotide PRO051. The New England journal of medicine\| PubMed ID: 18160687	2007
The therapeutic potential of antisense-mediated exon skipping. Current opinion in molecular therapeutics\| PubMed ID: 18386226	2008
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 18813282	2009
Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy. BMC medical genetics\| PubMed ID: 19046429	2008
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. The journal of gene medicine\| PubMed ID: 19140108	2009
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Human mutation\| PubMed ID: 19156838	2009
Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells. Blood\| PubMed ID: 19258592	2009
[Experimental therapy in Duchenne muscular dystrophy]. Nederlands tijdschrift voor geneeskunde\| PubMed ID: 19475867	2009
Less is more: therapeutic exon skipping for Duchenne muscular dystrophy. Lancet neurology\| PubMed ID: 19713153	2009
Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy. Annals of the New York Academy of Sciences\| PubMed ID: 19796079	2009
Progress in therapeutic antisense applications for neuromuscular disorders. European journal of human genetics : EJHG\| PubMed ID: 19809477	2010
Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials. Neuromuscular disorders : NMD\| PubMed ID: 20079639	2010
Therapeutic exon skipping for dysferlinopathies? European journal of human genetics : EJHG\| PubMed ID: 20145676	2010
A 3 months mild functional test regime does not affect disease parameters in young mdx mice. Neuromuscular disorders : NMD\| PubMed ID: 20307983	2010
Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing. Oligonucleotides\| PubMed ID: 20377429	2010
Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 20407428	2010
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Laboratory investigation; a journal of technical methods and pathology\| PubMed ID: 20458276	2010
Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy. RNA biology\| PubMed ID: 20523110	2010
BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model. Neurobiology of disease\| PubMed ID: 20940052	2011
The risks of therapeutic misconception and individual patient (n=1) "trials" in rare diseases such as Duchenne dystrophy. Neuromuscular disorders : NMD\| PubMed ID: 21051233	2011
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Annals of the New York Academy of Sciences\| PubMed ID: 21121926	2010
Systemic administration of PRO051 in Duchenne's muscular dystrophy. The New England journal of medicine\| PubMed ID: 21428760	2011
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 21468001	2011
Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy. BMC medical genomics\| PubMed ID: 21507246	2011
Opportunities and challenges for the development of antisense treatment in neuromuscular disorders. Expert opinion on biological therapy\| PubMed ID: 21510827	2011
Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain. Frontiers in molecular neuroscience\| PubMed ID: 21811437	2011
Targeting several CAG expansion diseases by a single antisense oligonucleotide. PloS one\| PubMed ID: 21909428	2011
Prednisolone treatment does not interfere with 2'-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy. Human gene therapy\| PubMed ID: 22017442	2012
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain : a journal of neurology\| PubMed ID: 22102647	2011
Phage display screening without repetitious selection rounds. Analytical biochemistry\| PubMed ID: 22178910	2012
Cell-type specific regulation of myostatin signaling. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology\| PubMed ID: 22202673	2011
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. Neuromuscular disorders : NMD\| PubMed ID: 22209498	2012
Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains. Neuromuscular disorders : NMD\| PubMed ID: 22284942	2012
The effects of low levels of dystrophin on mouse muscle function and pathology. PloS one\| PubMed ID: 22359642	2012
Splice modulating therapies for human disease. Cell\| PubMed ID: 22424220	2012
Overview on applications of antisense-mediated exon skipping. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22454056	2012
Overview on DMD exon skipping. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22454057	2012
Overview on AON design. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 22454058	2012
Antisense oligonucleotide mediated exon skipping as a potential strategy for the treatment of a variety of inflammatory diseases such as rheumatoid arthritis. Annals of the rheumatic diseases\| PubMed ID: 22460143	2012
Gene therapy for Duchenne muscular dystrophy. Current opinion in neurology\| PubMed ID: 22892952	2012
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature genetics\| PubMed ID: 23143600	2012
The effect of 6-thioguanine on alternative splicing and antisense-mediated exon skipping treatment for duchenne muscular dystrophy. PLoS currents\| PubMed ID: 23259153	2012
Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain. BMC neuroscience\| PubMed ID: 23294837	2013
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS currents\| PubMed ID: 23330068	2013
Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP). Molecular therapy. Nucleic acids\| PubMed ID: 23340324	2013
Long-term Exon Skipping Studies With 2'-O-Methyl Phosphorothioate Antisense Oligonucleotides in Dystrophic Mouse Models. Molecular therapy. Nucleic acids\| PubMed ID: 23344236	2012
Advances in therapeutic RNA-targeting. New biotechnology\| PubMed ID: 23369867	2013
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 23369965	2013
Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology\| PubMed ID: 23460734	2013
Innovating therapies for muscle diseases. Handbook of clinical neurology\| PubMed ID: 23622373	2013
Dose-dependent pharmacokinetic profiles of 2'-O-methyl phosphorothioate antisense oligonucleotidesin mdx mice. Nucleic acid therapeutics\| PubMed ID: 23634945	2013
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon. Neurobiology of disease\| PubMed ID: 23659897	2013
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle. Human molecular genetics\| PubMed ID: 23784375	2013
Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations. Stem cells and development\| PubMed ID: 23786351	2013
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations. Stem cells and development\| PubMed ID: 23829870	2013
Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva. PloS one\| PubMed ID: 23861958	2013
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, Na... Neuromuscular disorders : NMD\| PubMed ID: 23890933	2013
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics : EJHG\| PubMed ID: 23900271	2014
DMD transcript imbalance determines dystrophin levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology\| PubMed ID: 23975932	2013
Generation of embryonic stem cells and mice for duchenne research. PLoS currents\| PubMed ID: 24057032	2013
Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice. PLoS currents\| PubMed ID: 24292657	2013
Peptide conjugation of 2'-O-methyl phosphorothioate antisense oligonucleotides enhances cardiac uptake and exon skipping in mdx mice. Nucleic acid therapeutics\| PubMed ID: 24320790	2014
Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification. Nucleic acid therapeutics\| PubMed ID: 24380395	2014
Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides. Molecular therapy. Nucleic acids\| PubMed ID: 24448195	2014
Fibronectin is a serum biomarker for Duchenne muscular dystrophy. Proteomics. Clinical applications\| PubMed ID: 24458521	2014
Low dystrophin levels in heart can delay heart failure in mdx mice. Journal of molecular and cellular cardiology\| PubMed ID: 24486194	2014
A Novel Feed-Forward Loop between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration. The American journal of pathology\| PubMed ID: 24486325	2014
Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases. Experimental cell research\| PubMed ID: 24486759	2014
Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges. Nucleic acid therapeutics\| PubMed ID: 24506778	2014
The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in mdx Mice. Molecular therapy. Nucleic acids\| PubMed ID: 24549299	2014
Development of a web course on gene therapy by the international consortium of gene therapy. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 24584076	2014