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Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYearFull text
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr Michela Guglieri
Dr Alexander Murphy
Professor Katherine Bushby
Dr John Bourke
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy2017
Victoria Hedley
Professor Katherine Bushby
Challenges raised by cross-border testing of rare diseases in the European union2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period2017
Dr Michela Guglieri
Professor Katherine Bushby
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Developing standardized corticosteroid treatment for Duchenne 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
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