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Browsing publications by Dr Richard Charlton.

Newcastle AuthorsTitleYearFull text
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 1A2021
Daniel Cox
Dr Richard Charlton
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH2021
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 pathologies2020
Dr Lizzie Harris
Dr 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 phenotypes2018
Dr Andreas Roos
Daniel Cox
Dr 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 Impairment2017
Dr Richard Charlton
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy2015
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle2014
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 abnormalities2013
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 inheritance2012
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 gene2011
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 muscle2010
Dr Richard Charlton
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
Muscle protein profile in Anoctaminopathies2010
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 dystrophy2010
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 dystrophy2009
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 dysferlinopathy2009
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 myopathy2009
Dr Richard Charlton
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Rita Barresi
Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A2009
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 Richard Charlton
Dr Rita Barresi
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Caveolinopathy - New mutations and additional symptoms2008
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 pedigree2008
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 symptoms2008
Dr Richard Charlton
Dr Rita Barresi
Professor Volker Straub
D.P.3.10: Partial caveolin 3 deficiency in acquired rippling muscle disease2008
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 Julie Murphy
Dr Richard Charlton
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Robert Taylor
et al.
G.P.10.09 Mitochondrial dysfunction in dysferlinopathy2008
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
G.P.14.01: Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A2008
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 spectrum2008
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 2A2007
Dr Lars Klinge
Professor Robin Harris
Dr Richard Charlton
Professor Volker Straub
Dr Rita Barresi
et al.
Dysferlin in muscle regeneration2007
Dr Lars Klinge
Dr Richard Charlton
Dr Rita Barresi
Emerita Professor Katherine Bushby
Dysferlinopathy with very late onset and untypical clinical presentation2007
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 Anna Sarkozy
Dr Richard Charlton
Dr Michelle Eagle
Professor Patrick Chinnery
Professor Volker Straub
et al.
Phenotypic variability associated with desmin gene mutations2006
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 abnormality2003
Evelyn Torsney
Dr Richard Charlton
Professor Helen Arthur
Inducible expression of human endoglin during inflammation and wound healing in vivo2002
Garrett Durkan
Dr Richard Charlton
Dr Mary Robinson
Kilian Mellon
Caveolin-1 expression is associated with high-grade bladder cancer2001
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 cancer2001
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 healing2001
Evelyn Torsney
Dr Richard Charlton
Professor Helen Arthur
An antibody to Endoglin/CD105 (SN6h): A marker for endothelial cells in chronic inflammatory disease2000
Dr Richard Charlton
Novel endothelial cell markers are expressed in angiogenesis in human atherosclerosis1999
Dr Richard Charlton
The expression of C5a receptor (C5aR) (CD88) is associated with the progression of inflammation in human disease1999