Annemieke Aartsma-Rus Department of Human Genetics Leiden University Medical Center Biography Publications Institution JoVE Articles Annemieke Aartsma-Rus has not added a biography. If you are Annemieke Aartsma-Rus and would like to personalize this page please email our Author Liaison for assistance. Publications 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. Mar, 2014 | Pubmed ID: 24584076 The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in Mdx Mice Molecular Therapy. Nucleic Acids. 2014 | Pubmed ID: 24549299 Antisense-mediated Exon Skipping: Networking to Meet Opportunities and to Overcome Challenges Nucleic Acid Therapeutics. Feb, 2014 | Pubmed ID: 24506778 Antisense-mediated Exon Skipping: Taking Advantage of a Trick from Mother Nature to Treat Rare Genetic Diseases Experimental Cell Research. Jan, 2014 | Pubmed ID: 24486759 A Novel Feed-Forward Loop Between ARIH2 E3-Ligase and PABPN1 Regulates Aging-Associated Muscle Degeneration The American Journal of Pathology. Apr, 2014 | Pubmed ID: 24486325 Low Dystrophin Levels in Heart Can Delay Heart Failure in Mdx Mice Journal of Molecular and Cellular Cardiology. Apr, 2014 | Pubmed ID: 24486194 Fibronectin is a Serum Biomarker for Duchenne Muscular Dystrophy Proteomics. Clinical Applications. Jan, 2014 | Pubmed ID: 24458521 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. 2014 | Pubmed ID: 24448195 Preventing Formation of Toxic N-terminal Huntingtin Fragments Through Antisense Oligonucleotide-mediated Protein Modification Nucleic Acid Therapeutics. Feb, 2014 | Pubmed ID: 24380395 Peptide Conjugation of 2'-O-methyl Phosphorothioate Antisense Oligonucleotides Enhances Cardiac Uptake and Exon Skipping in Mdx Mice Nucleic Acid Therapeutics. Feb, 2014 | Pubmed ID: 24320790 A 3-base Pair Deletion, C.9711_9713del, in DMD Results in Intellectual Disability Without Muscular Dystrophy European Journal of Human Genetics : EJHG. Apr, 2014 | Pubmed ID: 23900271 Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice PLoS Currents. 2013 | Pubmed ID: 24292657 Generation of Embryonic Stem Cells and Mice for Duchenne Research PLoS Currents. 2013 | Pubmed ID: 24057032 DMD Transcript Imbalance Determines Dystrophin Levels FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Dec, 2013 | Pubmed ID: 23975932 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 Neuromuscular Disorders : NMD. Nov, 2013 | Pubmed ID: 23890933 Antisense-oligonucleotide Mediated Exon Skipping in Activin-receptor-like Kinase 2: Inhibiting the Receptor That is Overactive in Fibrodysplasia Ossificans Progressiva PloS One. 2013 | Pubmed ID: 23861958 Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-cardiomyocytes Harboring DMD Mutations Stem Cells and Development. Oct, 2013 | Pubmed ID: 23829870 Exon Skipping and Gene Transfer Restore Dystrophin Expression in HiPSC-cardiomyocytes Harbouring DMD Mutations Stem Cells and Development. Jun, 2013 | Pubmed ID: 23786351 Dystrophin-deficient Pigs Provide New Insights into the Hierarchy of Physiological Derangements of Dystrophic Muscle Human Molecular Genetics. Nov, 2013 | Pubmed ID: 23784375 Ataxin-3 Protein Modification As a Treatment Strategy for Spinocerebellar Ataxia Type 3: Removal of the CAG Containing Exon Neurobiology of Disease. Oct, 2013 | Pubmed ID: 23659897 Dose-dependent Pharmacokinetic Profiles of 2'-O-methyl Phosphorothioate Antisense Oligonucleotidesin Mdx Mice Nucleic Acid Therapeutics. Jun, 2013 | Pubmed ID: 23634945 Innovating Therapies for Muscle Diseases Handbook of Clinical Neurology. 2013 | Pubmed ID: 23622373 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. Jun, 2013 | Pubmed ID: 23460734 Traducendo La Rivoluzione Genomica: La Necessità Di Un Consorzio Di Terapia Genica Internazionale Per Le Malattie Monogeniche Molecular Therapy : the Journal of the American Society of Gene Therapy. Feb, 2013 | Pubmed ID: 23369965 Advances in Therapeutic RNA-targeting New Biotechnology. Mar, 2013 | Pubmed ID: 23369867 Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP) Molecular Therapy. Nucleic Acids. 2013 | Pubmed ID: 23340324 Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: "translating" the Translational PLoS Currents. 2013 | Pubmed ID: 23330068 Isoforma Antisenso-mediata Di Commutazione Di Steroidi Recettore Coactivator-1 Nel Nucleo Centrale Dell'amigdala Del Cervello Del Mouse BMC Neuroscience. 2013 | Pubmed ID: 23294837 Long-term Exon Skipping Studies With 2'-O-Methyl Phosphorothioate Antisense Oligonucleotides in Dystrophic Mouse Models Molecular Therapy. Nucleic Acids. 2012 | Pubmed ID: 23344236 The Effect of 6-thioguanine on Alternative Splicing and Antisense-mediated Exon Skipping Treatment for Duchenne Muscular Dystrophy PLoS Currents. 2012 | Pubmed ID: 23259153 Digenic Inheritance of an SMCHD1 Mutation and an FSHD-permissive D4Z4 Allele Causes Facioscapulohumeral Muscular Dystrophy Type 2 Nature Genetics. Dec, 2012 | Pubmed ID: 23143600 Gene Therapy for Duchenne Muscular Dystrophy Current Opinion in Neurology. Oct, 2012 | Pubmed ID: 22892952 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. Apr, 2012 | Pubmed ID: 22460143 Overview on AON Design Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22454058 Overview on DMD Exon Skipping Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22454057 Overview on Applications of Antisense-mediated Exon Skipping Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22454056 Splice Modulating Therapies for Human Disease Cell. Mar, 2012 | Pubmed ID: 22424220 The Effects of Low Levels of Dystrophin on Mouse Muscle Function and Pathology PloS One. 2012 | Pubmed ID: 22359642 Comparison of Skeletal Muscle Pathology and Motor Function of Dystrophin and Utrophin Deficient Mouse Strains Neuromuscular Disorders : NMD. May, 2012 | Pubmed ID: 22284942 Assessment of Cardiac Function in Three Mouse Dystrophinopathies by Magnetic Resonance Imaging Neuromuscular Disorders : NMD. May, 2012 | Pubmed ID: 22209498 Phage Display Screening Without Repetitious Selection Rounds Analytical Biochemistry. Feb, 2012 | Pubmed ID: 22178910 Prednisolone Treatment Does Not Interfere with 2'-O-methyl Phosphorothioate Antisense-mediated Exon Skipping in Duchenne Muscular Dystrophy Human Gene Therapy. Mar, 2012 | Pubmed ID: 22017442 Regolamento Specifico Tipo Di Cellule Della Miostatina Segnalazione The FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Dec, 2011 | Pubmed ID: 22202673 Dystrophin Quantification and Clinical Correlations in Becker Muscular Dystrophy: Implications for Clinical Trials Brain : a Journal of Neurology. Dec, 2011 | Pubmed ID: 22102647 Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide PloS One. 2011 | Pubmed ID: 21909428 Antisense-mediated RNA Targeting: Versatile and Expedient Genetic Manipulation in the Brain Frontiers in Molecular Neuroscience. 2011 | Pubmed ID: 21811437 Opportunities and Challenges for the Development of Antisense Treatment in Neuromuscular Disorders Expert Opinion on Biological Therapy. Aug, 2011 | Pubmed ID: 21510827 Dual Exon Skipping in Miostatina E Distrofina Per La Distrofia Muscolare Di Duchenne BMC Medical Genomics. 2011 | Pubmed ID: 21507246 Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD Molecular Therapy : the Journal of the American Society of Gene Therapy. May, 2011 | Pubmed ID: 21468001 Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy The New England Journal of Medicine. Apr, 2011 | Pubmed ID: 21428760 The Risks of Therapeutic Misconception and Individual Patient (n=1) "trials" in Rare Diseases Such As Duchenne Dystrophy Neuromuscular Disorders : NMD. Jan, 2011 | Pubmed ID: 21051233 BMP Antagonisti Migliorano La Differenziazione Miogena E Migliorare Il Fenotipo Distrofica in Un Modello Murino DMD Neurobiology of Disease. Feb, 2011 | Pubmed ID: 20940052 New Insights in Gene-derived Therapy: the Example of Duchenne Muscular Dystrophy Annals of the New York Academy of Sciences. Dec, 2010 | Pubmed ID: 21121926 Antisense-mediated Modulation of Splicing: Therapeutic Implications for Duchenne Muscular Dystrophy RNA Biology. Jul-Aug, 2010 | Pubmed ID: 20523110 Accurate Quantification of Dystrophin MRNA and Exon Skipping Levels in Duchenne Muscular Dystrophy Laboratory Investigation; a Journal of Technical Methods and Pathology. Sep, 2010 | Pubmed ID: 20458276 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. Jun, 2010 | Pubmed ID: 20407428 Exonic Sequences Provide Better Targets for Antisense Oligonucleotides Than Splice Site Sequences in the Modulation of Duchenne Muscular Dystrophy Splicing Oligonucleotides. Apr, 2010 | Pubmed ID: 20377429 A 3 Months Mild Functional Test Regime Does Not Affect Disease Parameters in Young Mdx Mice Neuromuscular Disorders : NMD. Apr, 2010 | Pubmed ID: 20307983 Therapeutic Exon Skipping for Dysferlinopathies? European Journal of Human Genetics : EJHG. Aug, 2010 | Pubmed ID: 20145676 Comparative Analysis of Antisense Oligonucleotide Sequences Targeting Exon 53 of the Human DMD Gene: Implications for Future Clinical Trials Neuromuscular Disorders : NMD. Feb, 2010 | Pubmed ID: 20079639 Progress in Therapeutic Antisense Applications for Neuromuscular Disorders European Journal of Human Genetics : EJHG. Feb, 2010 | Pubmed ID: 19809477 Development of Antisense-mediated Exon Skipping As a Treatment for Duchenne Muscular Dystrophy Annals of the New York Academy of Sciences. Sep, 2009 | Pubmed ID: 19796079 Less is More: Therapeutic Exon Skipping for Duchenne Muscular Dystrophy Lancet Neurology. Oct, 2009 | Pubmed ID: 19713153 [Experimental Therapy in Duchenne Muscular Dystrophy] Nederlands Tijdschrift Voor Geneeskunde. May, 2009 | Pubmed ID: 19475867 Antisense-mediated Exon Skipping to Correct IL-12Rbeta1 Deficiency in T Cells Blood. May, 2009 | Pubmed ID: 19258592 Theoretic Applicability of Antisense-mediated Exon Skipping for Duchenne Muscular Dystrophy Mutations Human Mutation. Mar, 2009 | Pubmed ID: 19156838 In Vivo Comparison of 2'-O-methyl Phosphorothioate and Morpholino Antisense Oligonucleotides for Duchenne Muscular Dystrophy Exon Skipping The Journal of Gene Medicine. Mar, 2009 | Pubmed ID: 19140108 Guidelines for Antisense Oligonucleotide Design and Insight into Splice-modulating Mechanisms Molecular Therapy : the Journal of the American Society of Gene Therapy. Mar, 2009 | Pubmed ID: 18813282 Assessment of the Feasibility of Exon 45-55 Multiexon Skipping for Duchenne Muscular Dystrophy BMC Medical Genetics. 2008 | Pubmed ID: 19046429 The Therapeutic Potential of Antisense-mediated Exon Skipping Current Opinion in Molecular Therapeutics. Apr, 2008 | Pubmed ID: 18386226 Local Dystrophin Restoration with Antisense Oligonucleotide PRO051 The New England Journal of Medicine. Dec, 2007 | Pubmed ID: 18160687 Antisense-mediated Exon Skipping: a Versatile Tool with Therapeutic and Research Applications RNA (New York, N.Y.). Oct, 2007 | Pubmed ID: 17684229 Antisense-induced Exon Skipping for Duplications in Duchenne Muscular Dystrophy BMC Medical Genetics. 2007 | Pubmed ID: 17612397 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. Aug, 2006 | Pubmed ID: 16770791 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. Sep, 2006 | Pubmed ID: 16753346 Gene Expression Profiling to Monitor Therapeutic and Adverse Effects of Antisense Therapies for Duchenne Muscular Dystrophy Pharmacogenomics. Apr, 2006 | Pubmed ID: 16610940 Functional Analysis of 114 Exon-internal AONs for Targeted DMD Exon Skipping: Indication for Steric Hindrance of SR Protein Binding Sites Oligonucleotides. Dec, 2005 | Pubmed ID: 16396622 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. Aug, 2004 | Pubmed ID: 15294170 Antisense-induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense American Journal of Human Genetics. Jan, 2004 | Pubmed ID: 14681829 Therapeutic Antisense-induced Exon Skipping in Cultured Muscle Cells from Six Different DMD Patients Human Molecular Genetics. Apr, 2003 | Pubmed ID: 12668614 Targeted Exon Skipping As a Potential Gene Correction Therapy for Duchenne Muscular Dystrophy Neuromuscular Disorders : NMD. Oct, 2002 | Pubmed ID: 12206800 Valutare prestazioni funzionali nel Annemieke Aartsma-Rus1, Maaike van Putten1 1Department of Human Genetics, Leiden University Medical Center JoVE 51303 Behavior
Valutare prestazioni funzionali nel Annemieke Aartsma-Rus1, Maaike van Putten1 1Department of Human Genetics, Leiden University Medical Center JoVE 51303 Behavior