Browsing publications by Professor Annemieke Aartsma-Rus

Newcastle AuthorsTitleYearFull text
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 review2017
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 Dystrophy2016
Dr Mattia Calissano
Professor Hanns Lochmuller
Professor Annemieke Aartsma-Rus
Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients2016
Professor Volker Straub
Professor Katherine Bushby
Dr Monica Ensini
Professor Annemieke Aartsma-Rus
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy2016
Dr Stephen Lynn
Professor Annemieke Aartsma-Rus
Professor Katherine Bushby
Dr Anna Mayhew
Professor Volker Straub
et al.
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy2015
Dr Catherine Bladen
Professor Volker Straub
Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
Professor Hanns Lochmuller
et al.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations2015
Dr Amina Chaouch
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 variants2015
Dr Ingrid Verhaart
Professor Annemieke Aartsma-Rus
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy2014
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 drisapersen2014
Dr Ingrid Verhaart
Professor Annemieke Aartsma-Rus
The dynamics of compound, transcript, and protein effects after treatment With 2OMePS antisense oligonucleotides in mdx mice2014
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