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Browsing publications by Dr Anne Lampe

Newcastle AuthorsTitleYearFull text
Dr Marta Bertoli
Dr Anne Lampe
Professor Volker Straub
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders2017
Dr Anne Lampe
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen Type VI-related disorders2012
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
Professor David Kavanagh
Dr Anne Lampe
Professor Judith Goodship
Dr Lisa Turnbull
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
Professor David Kavanagh
Dr Matthew Edey
Dr Lisa Turnbull
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
Emerita 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
Dr Anne Lampe
Pronounced phenotypic variability of heterozygote deletion mutations in collagen VI - Evidence for a UCMD-BM spectrum2006
Dr Anne Lampe
Dr Steven Laval
Katarzyna Swoboda
Emerita Professor Katherine Bushby
Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy2005
Dr Anne Lampe
Dr Michelle Eagle
Dr Mark Buddles
Professor Volker Straub
Emerita Professor Katherine Bushby
Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes2005
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