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Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYearFull text
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.		MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.		A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
et al.		Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study2018
Fumi Takeuchi
Sunil Rodger
Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.		A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2017
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 Alex Murphy
Professor Katherine Bushby
Dr John Bourke
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy2017
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 Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.		Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
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