Publications by Professor Annemieke Aartsma-Rus - ePrints

Browsing publications by Professor Annemieke Aartsma-Rus.

Newcastle Authors	Title	Year
Dr Nathalie Doorenweerd Professor Annemieke Aartsma-Rus	Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy	2020
Dr John Bourke Dr Michela Guglieri Professor Annemieke Aartsma-Rus Dr Guy MacGowan	238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018	2019
Dr Nathalie Doorenweerd Professor Annemieke Aartsma-Rus	Erratum: Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy (Scientific reports (2017) 7 1 (12575))	2018
Professor Hanns Lochmuller Dr Dorota Badowska Rachel Thompson Professor Annemieke Aartsma-Rus Libby Wood et al.	RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases	2018
Dr Mojgan Reza Professor Hanns Lochmuller Professor Annemieke Aartsma-Rus	Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne	2017
Dr Ingrid Verhaart Agata Robertson Dr Ian Wilson Professor Annemieke Aartsma-Rus Dr Shona Cameron et al.	Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - A literature review	2017
Becca Leary Dr Anne Oyewole Emerita Professor Katherine Bushby Professor Annemieke Aartsma-Rus	Translational Research in Europe for theAssessment and Treatment for NeuromuscularDisorders (TREAT-NMD)	2017
Professor Annemieke Aartsma-Rus Professor Volker Straub Professor Hanns Lochmuller	Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy	2016
Dr Mattia Calissano Professor Hanns Lochmuller Professor Annemieke Aartsma-Rus	Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients	2016
Professor Volker Straub Emerita Professor Katherine Bushby Dr Monica Ensini Professor Annemieke Aartsma-Rus	Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy	2016
Dr Stephen Lynn Professor Annemieke Aartsma-Rus Emerita Professor Katherine Bushby Dr Anna Mayhew Professor Volker Straub et al.	Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy	2015
Dr Catherine Bladen Professor Jordi Diaz Manera Professor Volker Straub Emerita Professor Katherine Bushby Professor Annemieke Aartsma-Rus et al.	The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations	2015
Dr Amina Chaouch Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller Professor Annemieke Aartsma-Rus et al.	Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants	2015
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy	2014
Dr Mojgan Reza Dr Mattia Calissano Professor Hanns Lochmuller Professor Annemieke Aartsma-Rus	MMP-9 serum levels increase over time in Duchenne muscular dystrophy patients and decrease upon treatment with drisapersen	2014
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	The dynamics of compound, transcript, and protein effects after treatment With 2OMePS antisense oligonucleotides in mdx mice	2014
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	DMD transcript imbalance determines dystrophin levels	2013
Morten Ritso Dr Steven Laval Dr Rita Barresi Professor Annemieke Aartsma-Rus Professor Hanns Lochmuller et al.	Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring DMD Mutations	2013
Morten Ritso Dr Steven Laval Dr Rita Barresi Professor Annemieke Aartsma-Rus Professor Hanns Lochmuller et al.	Gene therapy to restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations	2013
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	AON-Mediated Exon Skipping for Duchenne Muscular Dystrophy	2012
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging	2012
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	Gene therapy for Duchenne muscular dystrophy	2012
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	Prednisolone treatment does not interfere with 2'-O-methyl phosphorothioate antisense-mediated exon skipping in Duchenne muscular dystrophy	2012
Dr Ingrid Verhaart Professor Annemieke Aartsma-Rus	The effect of 6-thioguanine on alternative splicing and antisense-mediated exon skipping treatment for duchenne muscular dystrophy	2012