Browsing publications by Dr Anne Lampe

Newcastle AuthorsTitleYear
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.		Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue2009
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Anne Lampe
Dr Fiona Norwood
Professor Volker Straub
et al.		EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.		Response to letter from Bernardi2009
Dr Matthew Edey
Dr David Kavanagh
Dr Anne Lampe
Professor Judith Goodship
Dr Lisa Strain
et al.		A novel non-synonymous polymorphism (p.Arg240His) in C4b-Binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Rita Barresi
Dr Richard Charlton
Professor Hanns Lochmuller
et al.		A refined diagnostic algorithm for Bethlem myopathy2008
Dr Anne Lampe
Dr Debbie Hicks
Dr Steven Laval
Dr Richard Charlton
Professor Volker Straub
et al.		Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.		Testing therapies in neuromuscular disease: Oral presentations2008
Dr David Kavanagh
Dr Matthew Edey
Dr Lisa Strain
Professor Judith Goodship
Dr Anne Lampe
et al.		A non-synonymous polymorphism (arg240his) in C4b-binding protein is associated with atypical haemolytic uraemic syndrome and leads to impaired alternative pathway cofactor activity2007
Dr Anne Lampe
Professor Katherine Bushby
Dr Debbie Hicks
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations2006
Dr Anne Lampe
Dr Debbie Hicks
Dr John Hudson
Dr Steven Laval
Dr Richard Charlton
et al.		Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype2006
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