Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYearFull text
Dr Michela Guglieri
Dr Alexander Murphy
Professor Katherine Bushby
Dr John Bourke
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
Dr Rita Barresi
Professor Katherine Bushby
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies2016
Fumi Takeuchi
Sunil Rodger
Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.
A comparative study of care and support for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2016
Dr Ana Topf
Professor Katherine Bushby
Professor Volker Straub
Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement2016
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
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
Dr Lizzie Harris
et al.
Clinical outcome study for dysferlinopathy: One-year follow-up2016
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015)2016
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
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