Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYearFull text
Dr Claire Wood
Professor Katherine Bushby
Professor Volker Straub
David Rawlings
Dr Anna Sarkozy
et al.
Bisphosphonate use in Duchenne Muscular Dystrophy - why, when to start and when to stop?2016
Victoria Hedley
Professor Katherine Bushby
Challenges Raised by Cross-Border Testing of Rare Diseases in the European Union2016
Elena Martoni
Professor Hanns Lochmuller
Professor Volker Straub
Professor Katherine Bushby
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Dr Claire Wood
Professor Volker Straub
Dr Michela Guglieri
Professor Katherine Bushby
Dr Timothy Cheetham
et al.
Short stature and pubertal delay in Duchenne muscular dystrophy2016
Dr Teresinha Evangelista
Victoria Hedley
Dr Jose Atalaia
Dr Stephen Lynn
Professor Katherine Bushby
et al.
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks2016
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
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