Browsing publications by Professor Katherine Bushby

Newcastle AuthorsTitleYear
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 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
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.		Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Rita Barresi
Dr Liesbeth De Waele
Professor Katherine Bushby
Autosomal recessive desminopathy with desmin-null mutations presenting in childhood2012
alasdair Wood
Pia Cumine
Dr Steven Laval
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.		Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish2012
Dr Alison Blain
Liz Greally
Dr Guy MacGowan
Dr Steven Laval
Professor Andrew Blamire
et al.		Beta-blocker/ACE-inhibitor combination treatment in mdx mice2012
Dr Michela Guglieri
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Professor Katherine Bushby
et al.		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Professor Katherine Bushby
et al.		Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies2012
Julia Maddison
Professor Volker Straub
Professor Hanns Lochmuller
Professor Doug Turnbull
Professor Patrick Chinnery
et al.		Clinical research activity in Newcastle MRC centre2012
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