Publications by Dr Richard Charlton - ePrints

Browsing publications by Dr Richard Charlton.

Newcastle Authors	Title	Year
Dr Ana Topf Dr Jennifer Duff Dr Richard Charlton Professor Volker Straub	Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure	2023
Dr Sabine Specht Dr Jennifer Duff Dr Richard Charlton Dr Tuomo Polvikoski Dr Rita Barresi et al.	A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A	2021
Daniel Cox Professor Giorgio Tasca Dr Richard Charlton	INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH	2021
Professor Roger Whittaker Dr Richard Charlton Dr Rita Barresi Professor Hanns Lochmuller Professor Rita Horvath et al.	Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies	2020
Dr Lizzie Harris Professor Chiara Marini Bettolo Dr Ana Topf Dr Rita Barresi Dr Tuomo Polvikoski et al.	MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes	2018
Dr Andreas Roos Daniel Cox Professor Chiara Marini Bettolo Dr Rita Barresi Dr Richard Charlton et al.	Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment	2017
Dr Richard Charlton Professor Michela Guglieri Emerita Professor Katherine Bushby Professor Volker Straub Dr Rita Barresi et al.	The importance of dosage analysis in dysferlinopathy	2015
Dr Richard Charlton Emerita Professor Katherine Bushby Dr Rita Barresi	The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle	2014
Dr Liesbeth De Waele Dr Michelle Eagle Dr Richard Charlton Dr Langping He Dr Emma Watson et al.	Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities	2013
Dr Richard Charlton Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby Dr Rita Barresi et al.	A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance	2012
Dr Anna Sarkozy Dr Michelle Eagle Dr Richard Charlton Dr Rita Barresi Professor Hanns Lochmuller et al.	Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene	2011
Dr Lars Klinge Dr Richard Charlton Dr Steven Laval Dr Mark Hornsey Professor Volker Straub et al.	Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle	2010
Dr Richard Charlton Dr Anna Sarkozy Dr Debbie Hicks Emerita Professor Katherine Bushby Dr Rita Barresi et al.	Muscle protein profile in Anoctaminopathies	2010
Dr Lars Klinge Dr Michelle Eagle Dr John Hudson Dr Anna Sarkozy Dr Richard Charlton et al.	New aspects on patients affected by dysferlin deficient muscular dystrophy	2010
Yen-Hui Chiu Dr Mark Hornsey Dr Lars Klinge Dr Louise Jorgensen Dr Steven Laval et al.	Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy	2009
Dr Steven Laval Dr Louise Jorgensen Dr Mark Hornsey Dr Lars Klinge Dr Richard Charlton et al.	Attenuated muscle regeneration is a key factor in dysferlinopathy	2009
Dr Richard Charlton Dr Debbie Hicks Dr Mojgan Reza Professor Volker Straub Professor Hanns Lochmuller et al.	Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy	2009
Dr Richard Charlton Professor Volker Straub Emerita Professor Katherine Bushby Dr Rita Barresi	Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A	2009
Dr Debbie Hicks Dr Anne Lampe Dr Rita Barresi Dr Richard Charlton Professor Hanns Lochmuller et al.	A refined diagnostic algorithm for Bethlem myopathy	2008
Dr Richard Charlton Dr Rita Barresi Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub et al.	Caveolinopathy - New mutations and additional symptoms	2008
Dr Rita Barresi Dr Richard Charlton Professor Volker Straub	D.P.3.04: Inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD): Extending the clinical features in a large pedigree	2008
Dr Rita Barresi Dr Richard Charlton Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub et al.	D.P.3.09: Caveolinopathy - New mutations and additional symptoms	2008
Dr Richard Charlton Dr Rita Barresi Professor Volker Straub	D.P.3.10: Partial caveolin 3 deficiency in acquired rippling muscle disease	2008
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 inheritance	2008
Dr Julie Murphy Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby Professor Robert Taylor et al.	G.P.10.09 Mitochondrial dysfunction in dysferlinopathy	2008
Dr Richard Charlton Emerita Professor Katherine Bushby Dr Rita Barresi	G.P.14.01: Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A	2008
Dr Lars Klinge Dr Richard Charlton Dr Juliane Mueller Dr Louise VB Anderson Professor Volker Straub et al.	Late onset in dysferlinopathy widens the clinical spectrum	2008
Dr Lars Klinge Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby Professor Volker Straub et al.	Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?	2008
Dr Richard Charlton Dr Rita Barresi Dr Louise VB Anderson Dr Michelle Eagle Dr Mauro Santibanez Koref et al.	Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A	2007
Dr Lars Klinge Professor Robin Harris Dr Richard Charlton Professor Volker Straub Dr Rita Barresi et al.	Dysferlin in muscle regeneration	2007
Dr Lars Klinge Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby	Dysferlinopathy with very late onset and untypical clinical presentation	2007
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 phenotype	2006
Dr Anna Sarkozy Dr Richard Charlton Dr Michelle Eagle Professor Patrick Chinnery Professor Volker Straub et al.	Phenotypic variability associated with desmin gene mutations	2006
Dr Richard Charlton Dr Lars Klinge Emerita Professor Katherine Bushby Professor Volker Straub	Sarcoglycanopathy - Can immunoanalyses accurately predict the genotype?	2006
Evelyn Torsney Dr Richard Charlton Professor Sir John Burn Professor Helen Arthur	Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality	2003
Evelyn Torsney Dr Richard Charlton Professor Helen Arthur	Inducible expression of human endoglin during inflammation and wound healing in vivo	2002
Garrett Durkan Dr Richard Charlton Dr Mary Robinson Kilian Mellon	Caveolin-1 expression is associated with high-grade bladder cancer	2001
Dr Alaiyi West Dr Marie O'Donnell Dr Richard Charlton Professor David Neal Professor Hing Leung et al.	Correlation of vascular endothelial growth factor expression with fibroblast growth factor-8 expression and clinico-pathologic parameters in human prostate cancer	2001
Evelyn Torsney Dr Richard Charlton Professor Helen Arthur	Endoglin, a gene required for murine embryonic vasculogenesis, is upregulated in angiogenesis in human inflammatory disease: Studies using a 'knockout' mouse model (the 'Cookson Mouse')	2001
Dr Richard Charlton	Transforming growth factor beta1 (TGF-beta 1) expression by myofibroblasts in dermal wound healing	2001
Evelyn Torsney Dr Richard Charlton Professor Helen Arthur	An antibody to Endoglin/CD105 (SN6h): A marker for endothelial cells in chronic inflammatory disease	2000
Dr Richard Charlton	Novel endothelial cell markers are expressed in angiogenesis in human atherosclerosis	1999
Dr Richard Charlton	The expression of C5a receptor (C5aR) (CD88) is associated with the progression of inflammation in human disease	1999