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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
et al.
Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Collagen VI related muscle disorders2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes2005
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 32004
Dr Anne Lampe
Professor Volker Straub
Dr Michael Wright
Dr Sara Brown
Emerita Professor Katherine Bushby
et al.
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity2004
Dr Anne Lampe
Emerita Professor Katherine Bushby
Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations2004
Dr Anne Lampe
Emerita Professor Katherine Bushby
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry2004
Dr Anne Lampe
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations2004
Dr Anne Lampe
Dr Timothy Cheetham
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency2003
Professor Judith Goodship
Dr Anne Lampe
Professor Tim Goodship
Familial hemolytic uremic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system2003
Dr Anne Lampe
Dr Clifford Lawrence
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome2003
Dr Anna Richards
Professor Judith Goodship
Dr Anne Lampe
Professor Tim Goodship
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome2003
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Rapid direct sequence analysis of the three genes encoding collagen VI2003
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Rapid direct sequence analysis of the three genes encoding collagen VI2003
Dr Anne Lampe
Dr Niamh Leonard
Emerita Professor Katherine Bushby
A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes2002
Dr Anne Lampe
Dr Sally Lynch
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma2002
Dr Anne Lampe
Mutations in a novel PHD finger gene, PHF6, cause Borjeson-Forssman-Lehmann Syndrome2002
Dr Anne Lampe
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome2002
Dr Anne Lampe
Dr Niamh Leonard
Mary Johnson
Emerita Professor Katherine Bushby
Ullrich-like congenital muscular dystrophy without linkage to collagen VI2002
Dr Anne Lampe
Dr Sally Lynch
Rhabdomyosarcoma in familial Neurofibromatosis type 1 secondary to deletion of the gene2001