Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYearFull text
Dr Lizzie Harris
Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Dr Rita Barresi
et al.
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome2015
Sunil Rodger
Dr Catherine Bladen
Professor Katherine Bushby
Professor Hanns Lochmuller
Adult care for Duchenne muscular dystrophy in the UK2015
Dr Anna Sarkozy
Dr Marta Bertoli
Dr John Hudson
Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period2015
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G2015
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT)2015
Dr Anna Sarkozy
Dr Rita Barresi
Dr Marta Bertoli
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies2015
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Professor Katherine Bushby
Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study2015
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 Oksana Pogoryelova
Dr Michela Guglieri
Professor Volker Straub
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy2015
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2015
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