Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYear
Dr Michela Guglieri
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping2014
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Professor Katherine Bushby
et al.
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study2014
Dr Richard Charlton
Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Dr Debbie Hicks
Professor Katherine Bushby
Collagen type VI myopathies2013
Professor Helen McConachie
Professor Ann Le Couteur
Dr Michela Guglieri
Professor Katherine Bushby
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy2013
Dr Amina Chaouch
Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome2013
Dr Pauline McCormack
Dr Simon Woods
Emma Heslop
Professor Volker Straub
Professor Katherine Bushby
et al.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational2013
Dr Kieren Hollingsworth
Dr Penelope Garrood
Dr Michelle Eagle
Professor Katherine Bushby
Professor Volker Straub
et al.
Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months2013
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy2013
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