Search filters

List of works by Annemieke Aartsma-Rus

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic

scientific article published on 01 January 2018

A 3 months mild functional test regime does not affect disease parameters in young mdx mice.

scientific article published on 21 March 2010

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

scientific article published on 31 July 2013

A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe

scientific article published on 11 December 2018

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides

scientific article published on 21 February 2018

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

scientific article published in PLoS ONE

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration

scientific article published on 30 January 2014

Accurate Dystrophin Quantification in Mouse Tissue; Identification of New and Evaluation of Existing Methods

scientific article published in March 2016

Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.

scientific article published on 10 May 2010

Advances in therapeutic RNA-targeting

scientific article

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

scientific article

An update on RNA-targeting therapies for neuromuscular disorders

scientific article published on 14 August 2015

Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

scientific article

Antisense oligonucleotide mediated exon skipping as a potential strategy for the treatment of a variety of inflammatory diseases such as rheumatoid arthritis

scientific article published on 01 April 2012

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

scientific article

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

scientific article published on 16 December 2003

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

scientific article published on 9 March 2015

Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

scientific article

Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges

scientific article published on 01 February 2014

Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases

scientific article published on 31 January 2014

Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain

scientific article

Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy

scientific article published on July 2010

Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva

scientific article

Assessing functional performance in the mdx mouse model

scientific article

Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging

scientific article published on 29 December 2011

Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy

scientific article

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon

scientific article published on 06 May 2013

Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

scientific article published in March 2018

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

scientific article

BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model

scientific article published on 16 October 2010

Biomarkers and surrogate endpoints in Duchenne: meeting report.

scientific article

Cell-type specific regulation of myostatin signaling

scientific article

Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.

scientific article published on 2 April 2016

Circulating Biomarkers for Duchenne Muscular Dystrophy.

scientific article published on July 2015

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

scientific article published on 10 May 2013

Cognitive flexibility deficits in a mouse model for the absence of full-length dystrophin

scientific article published on 24 May 2016

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

scientific article

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

scientific article published on 17 December 2015

Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

scholarly article by Maaike van Putten et al published May 2012 in Neuromuscular Disorders

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy

scientific article published on 14 February 2018

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

scientific article

Cyclic Peptides to Improve Delivery and Exon Skipping of Antisense Oligonucleotides in a Mouse Model for Duchenne Muscular Dystrophy

scientific article published on 12 October 2017

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

scientific article published in January 2017

DMD transcript imbalance determines dystrophin levels

scientific article published on 23 August 2013

Deacetylation Inhibition Reverses PABPN1-Dependent Muscle Wasting

scientific article published on 22 January 2019

Delivery is key: lessons learnt from developing splice-switching antisense therapies

scientific article

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

scientific article published on 10 August 2017

Development of a web course on gene therapy by the international consortium of gene therapy

scientific article published on March 2014

Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy

scientific article

Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy

scientific article published on 19 October 2020

Dose-Dependent Pharmacokinetic Profiles of 2′-O-Methyl Phosphorothioate Antisense OligonucleotidesinmdxMice ⬇️

scientific article published on May 2, 2013

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

scientific article

Dystrophin Analysis in Clinical Trials

scientific article published on January 2014

Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

scientific article

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

scientific article

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

scientific article

Environmental 24-hr Cycles Are Essential for Health

scientific article published on 13 July 2016

Erratum: Therapeutic exon skipping for dysferlinopathies?

scholarly article published in European Journal of Human Genetics

Evaluation of 2'-Deoxy-2'-fluoro Antisense Oligonucleotides for Exon Skipping in Duchenne Muscular Dystrophy

scientific article

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

scientific article published on 20 December 2017

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

scientific article published on 01 January 2019

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

scientific article published on 01 January 2018

Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations.

scientific article

Exon skipping for DMD.

scientific article published on 22 November 2012

Exon skipping: a first in class strategy for Duchenne muscular dystrophy

scientific article published on 12 December 2016

Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing

scientific article published on April 2010

FDA Approval of Nusinersen for Spinal Muscular Atrophy Makes 2016 the Year of Splice Modulating Oligonucleotides

scientific article published on 21 February 2017

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

scientific article published on 8 December 2016

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites

scientific article

Gene therapy for Duchenne muscular dystrophy

scientific article published on 01 October 2012

Generation of embryonic stem cells and mice for duchenne research

scientific article

Genetic therapies for spinal muscular atrophy type 1.

scientific article published on 8 December 2017

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

scientific article

Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms

scientific article

Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy

scientific article published on 7 August 2015

In-Depth Characterization of Protein Disulfide Bonds by Online Liquid Chromatography-Electrochemistry-Mass Spectrometry

scientific article published on 14 September 2015

Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.

scientific article published on 30 March 2018

Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP).

scientific article published on 22 January 2013

Innovating therapies for muscle diseases

scientific article published on January 2013

Less is more: therapeutic exon skipping for Duchenne muscular dystrophy

scientific article published on 25 August 2009

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

scientific article published on 27 December 2019

Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice

scientific article published on 06 March 2018

Low dystrophin levels in heart can delay heart failure in mdx mice.

scientific article published on 29 January 2014

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice

scientific article

Measuring DNA hybridization using fluorescent DNA-stabilized silver clusters to investigate mismatch effects on therapeutic oligonucleotides.

scientific article published on 6 April 2018

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

scientific article

Meeting report of the "Regulatory Exchange Matters" session at the 5th International TREAT-NMD Conference:: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular

scientific article published on 20 April 2018

Mimicking Cardiac Fibrosis in a Dish: Fibroblast Density Rather than Collagen Density Weakens Cardiomyocyte Function

scientific article

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

scientific article published on 10 August 2017

Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.

scientific article

New Momentum for the Field of Oligonucleotide Therapeutics.

scientific article published on February 2016

New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration

scientific article published on 12 October 2016

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

scientific article published on December 2010

Non-sequential and multi-step splicing of the dystrophin transcript.

scientific article published on 15 December 2015

Nonclinical Exon Skipping Studies with 2'-O-Methyl Phosphorothioate Antisense Oligonucleotides in mdx and mdx-utrn-/- Mice Inspired by Clinical Trial Results

article

Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides

scientific article published on 21 January 2014

Opportunities and challenges for antisense oligonucleotide therapies

scientific article published on 11 May 2020

Opportunities and challenges for the development of antisense treatment in neuromuscular disorders

scientific article published on 22 April 2011

Overview on AON Design ⬇️

scientific article published on January 1, 2012

Overview on DMD Exon Skipping ⬇️

scientific article published on January 1, 2012

Overview on applications of antisense-mediated exon skipping

scientific article published on January 2012

Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B

scientific article published on 08 April 2020

Peptide conjugation of 2'-O-methyl phosphorothioate antisense oligonucleotides enhances cardiac uptake and exon skipping in mdx mice

scientific article

Phage display screening without repetitious selection rounds

scientific article

Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples

scientific article published on 29 July 2019

Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model

scientific article

Preclinical studies on intestinal administration of antisense oligonucleotides as a model for oral delivery for treatment of duchenne muscular dystrophy

scientific article published on 18 November 2014

Prednisolone Treatment Does Not Interfere with 2′-O-Methyl Phosphorothioate Antisense-Mediated Exon Skipping in Duchenne Muscular Dystrophy ⬇️

scientific article published on January 26, 2012

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

scientific article

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification

scientific article published on 31 December 2013

Progress in therapeutic antisense applications for neuromuscular disorders

scientific article published on 07 October 2009

Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice

scientific article published on 30 October 2019

Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping

scientific article published on January 2014

Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy

scientific article published on 08 February 2014

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

scientific article published on 27 February 2018

RNA-based therapies for genodermatoses

scientific article

Reply to Lévy et al.

scientific article published on 2 June 2010

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

scientific article published on 01 January 2019

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

article

Response to: Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

scientific article published on 01 June 2015

Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

scientific article published on 24 September 2020

Serum Neurofilament light correlates with CADASIL disease severity and survival

scientific article published on 20 November 2018

Splice Modulating Therapies for Human Disease ⬇️

scientific article published on March 16, 2012

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

scientific article published on 23 March 2015

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

scientific article published on 07 October 2015

Splicing modulation therapy in the treatment of genetic diseases

scientific article

Stakeholder collaboration for spinal muscular atrophy therapy development

scientific article published on 01 April 2017

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

scientific article published on July 2016

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.

scientific article published on 14 January 2015

Systemic administration of PRO051 in Duchenne's muscular dystrophy

scientific article

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

scientific article published on 02 January 2020

Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor

scientific article

Targeting several CAG expansion diseases by a single antisense oligonucleotide

scientific article (publication date: 2011)

The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in mdx Mice

scientific article published on 18 February 2014

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

scientific article

The Pathogenesis and Therapy of Muscular Dystrophies

scientific article published on 04 June 2015

The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells

scientific article published on 29 December 2020

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The dystrophin gene and cognitive function in the general population

scientific article published on 17 September 2014

The effect of 6-thioguanine on alternative splicing and antisense-mediated exon skipping treatment for duchenne muscular dystrophy

scientific article

The effects of low levels of dystrophin on mouse muscle function and pathology

scientific article

The importance of genetic diagnosis for Duchenne muscular dystrophy

scientific article

The risks of therapeutic misconception and individual patient (n=1) "trials" in rare diseases such as Duchenne dystrophy.

scientific article

The therapeutic potential of antisense-mediated exon skipping

scientific article published on April 2008

The use of genetically humanized animal models for personalized medicine approaches

scientific article published on 01 October 2019

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

scientific article

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

scientific article

Therapeutic developments for Duchenne muscular dystrophy

scientific article published on 01 July 2019

Therapeutic exon skipping for dysferlinopathies?

scientific article

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

scientific article

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD)

scientific article published on 06 July 2017

Translational and regulatory challenges for exon skipping therapies

scientific article published on October 2014

Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands.

scientific article

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

scientific article

Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice

scholarly article by Bauke Kogelman et al published December 2018 in Journal of Molecular and Cellular Cardiology

Why dystrophin quantification is key in the eteplirsen saga

article published in 2018

[Experimental therapy in Duchenne muscular dystrophy]

scientific article published on 01 May 2009

Paulina is supported by:

About Paulina

Help