Publications by Dr Steven Laval - ePrints

Browsing publications by Dr Steven Laval.

Newcastle Authors	Title	Year
Dr Mojgan Reza Dr Steven Laval Professor Hanns Lochmuller	Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy	2016
Emily O'Connor Dr Ana Topf Dr Juliane Mueller Daniel Cox Dr Teresinha Evangelista et al.	Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome	2016
Emine Bagdatlioglu Dr Paola Porcari Dr Dara O'Hogain Liz Greally Dr Steven Laval et al.	Investigating the CNS in mouse models for Duchenne muscular dystrophy	2016
Dr Mojgan Reza Dr Steven Laval Dr Andreas Roos Professor Hanns Lochmuller	Optimization of Internally Deleted Dystrophin Constructs	2016
Stephanie Carr Morten Ritso Dr Andreas Roos Dr Steven Laval Professor Hanns Lochmuller et al.	Reversing mdx cardiomyocyte hypertrophy in vitro	2016
Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al.	A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism	2015
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al.	Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice	2015
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al.	Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter	2015
Dr Gavin Richardson Dr Steven Laval Dr Andrew Owens	Cardiomyocyte regeneration in the mdx mouse model of non-ischemic cardiomyopathy	2015
Dr Umar Burki Jonathan Keane Dr Alison Blain Dr Steven Laval Professor Volker Straub et al.	Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides	2015
Emine Bagdatlioglu Liz Greally Dr Paola Porcari Dr Steven Laval Professor Andrew Blamire et al.	Investigating the effect of dystrophin deficiency on brain function in mouse models of Duchenne muscular dystrophy	2015
Dr Amina Chaouch Yasmin Issop Daniel Cox Dr Juliane Mueller Dr Teresinha Evangelista et al.	Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy	2014
Dr Umar Burki Dr Alison Blain Dr Steven Laval Professor Volker Straub	Development of an ultrasensitive ELISA method for the determination of phosphorodiamidate morpholino oligonucleotide (PMO) levels in biological samples	2014
Dr Rita Barresi Dr Steven Laval Professor Volker Straub	Dystrophin quantification Biological and translational research implications	2014
Liz Greally Dr Alison Blain Syeda Ahmed Dr Steven Laval Professor Andrew Blamire et al.	Manganese enhanced muscle MRI as a sensitive outcome measure of dystrophin restoration in the mdx mouse	2014
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy	2014
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy	2014
Dr Amina Chaouch Daniel Cox Dr Steven Laval Dr Helen Griffin Dr Teresinha Evangelista et al.	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission	2014
Dr Terence Smith Dr Steven Laval Fangli Chen Dr Matthew Rock Emeritus Professor Tom Strachan et al.	Neural Crest Cell-Specific Inactivation of Nipbl or Mau2 During Mouse Development Results in a Late Onset of Craniofacial Defects	2014
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation	2013
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Professor Volker Straub et al.	Beta-Blockers, Left and Right Ventricular Function, and In-Vivo Calcium Influx in Muscular Dystrophy Cardiomyopathy	2013
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Professor Michela Guglieri et al.	Clinical and molecular analysis of a large cohort of patients with anoctaminopathy	2013
Dr Debbie Hicks Dr Steven Laval Elena Martoni Dr Asif Shah Professor Hanns Lochmuller et al.	Collagen XII as a new disease gene for Bethlem-like myopathy	2013
Dr Debbie Hicks Dr Steven Laval Professor Hanns Lochmuller	Congenital myasthenic syndromes due to mutations in ALG2 and ALG14	2013
Morten Ritso Dr Steven Laval Dr Rita Barresi Professor Annemieke Aartsma-Rus Professor Hanns Lochmuller et al.	Exon Skipping and Gene Transfer Restore Dystrophin Expression in Human Induced Pluripotent Stem Cells-Cardiomyocytes Harboring DMD Mutations	2013
Morten Ritso Dr Steven Laval Dr Rita Barresi Professor Annemieke Aartsma-Rus Professor Hanns Lochmuller et al.	Gene therapy to restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations	2013
Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Andrew Blamire et al.	Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy	2013
Dr Debbie Hicks Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family	2013
Dr Mark Hornsey Dr Steven Laval Dr Rita Barresi Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Muscular dystrophy in dysferlin-deficient mouse models	2013
Dr Mojgan Reza Dr Steven Laval Professor Hanns Lochmuller	Optimised dystrophin mini-constructs for gene delivery	2013
Dr Annette Meeson Dr Steven Laval Dr Andrew Owens Dr Gavin Richardson	The Cardiac Side Population is Dynamic during the Progression of Cardiomyopathy in the mdx Model of DMD	2013
Dr Gavin Richardson Dr Annette Meeson Dr Steven Laval Andrew Fuller Dr Andrew Owens et al.	mTert Expression is Increased in the mdx Model of Cardiomyopathy	2012
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al.	Animal Models of Duchenne Muscular Dystrophy, with Special Reference to the mdx Mouse	2012
alasdair Wood Pia Cumine Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish	2012
Dr Alison Blain Liz Greally Dr Guy MacGowan Dr Steven Laval Professor Andrew Blamire et al.	Beta-blocker/ACE-inhibitor combination treatment in mdx mice	2012
Dr Umar Burki Dr Alison Blain Dr Guillaume Launay Dr Ross Maxwell Dr Michael Carroll et al.	Development of in vivo imaging techniques to determine the biodistribution of antisense oligonucleotides in dystrophin deficient muscular dystrophy	2012
Dr Debbie Hicks Elena Martoni Professor Volker Straub Professor Hanns Lochmuller Dr Steven Laval et al.	Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing	2012
Dr Alasdair Wood Dr Juliane Mueller Dr Steven Laval Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Investigating basement membranes in FKRP and fukutin deficient zebrafish	2012
Liz Greally Dr Alison Blain Professor Andrew Blamire Dr Guy MacGowan Dr Steven Laval et al.	Manganese enhanced MRI as a useful in vivo outcome measure in assessing skeletal muscle calcium uptake in mouse models of muscular dystrophy	2012
Liz Greally Dr Alison Blain Professor Andrew Blamire Dr Guy MacGowan Dr Steven Laval et al.	Manganese enhanced MRI as an outcome measure in assessing skeletal muscle calcium uptake in muscular dystrophy mouse models	2012
Dr Mojgan Reza Daniel Cox Dr Steven Laval Dr Amina Chaouch Dr Rita Barresi et al.	MRC NMD Centre Biobank: An overview	2012
Dr Gavin Richardson Dr Annette Meeson Dr Steven Laval Dr Andrew Owens	mTert Expression is Increased in the MDX Model of Cardiomyopathy	2012
Matias Wagner Dr Steven Laval Dr Juliane Mueller Dr Hacer Durmus Professor Hanns Lochmuller et al.	Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy	2012
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al.	A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy	2011
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al.	A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy	2011
Dr Alasdair Wood Dr Juliane Mueller Catherine Jepson Dr Steven Laval Professor Hanns Lochmuller et al.	Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency	2011
Dr Alison Blain Liz Greally Dr Steven Laval Professor Volker Straub Dr Guy MacGowan et al.	An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis	2011
Dr Alasdair Wood Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Generating stable FKRP mutant zebrafish lines with zinc finger nucleases	2011
Dr Juliane Mueller Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller et al.	Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect	2011
Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Andrew Blamire et al.	In vivo myocardial calcium influx is increased in the delta sarcoglycan deficient mouse model of muscular dystrophy cardiomyopathy. Role of the L-type calcium channel	2011
Dr Louise Jorgensen Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire et al.	Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle	2011
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Professor Hanns Lochmuller et al.	Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse	2011
Dr Hacer Durmus Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients	2011
Mafalda Cacciottolo Dr Steven Laval Emerita Professor Katherine Bushby	Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins	2011
Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al.	Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency	2010
Dr Alison Blain Liz Greally Dr Louise Jorgensen Dr Steven Laval Emerita Professor Katherine Bushby et al.	Blocking calcium influx with streptomycin worsens myocardial pathology in the mdx mouse model of muscular dystrophy	2010
Dr Juliane Mueller Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub et al.	Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes	2010
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 Ralf Bauer Dr Alison Blain Liz Greally Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Intolerance to beta-blockade in a mouse model of delta-sarcoglycan-deficient muscular dystrophy cardiomyopathy	2010
Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al.	Modelling the role of dystroglycan glycosylation in angiogenesis using zebrafish	2010
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Dr Rita Barresi et al.	Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy	2010
Dr Anna Sarkozy Dr Rumaisa Bashir Dr Debbie Hicks Dr Rita Barresi Dr Steven Laval et al.	The first UK family with Ano5-associated myopathy	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 Alison Blain Dr Ralf Bauer Dr Guy MacGowan Liz Greally Dr Steven Laval et al.	Attenuation of adverse effects of prednisolone on delta-sarcoglycandeficient cardiomyopathy by mineralocorticoid-receptorant-agonism	2009
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 rescue	2009
Dr Louise Jorgensen Dr Steven Laval Professor Hanns Lochmuller	Efficient and Fast Functional Screening of Microdystrophin Constructs In Vivo and In Vitro for Therapy of Duchenne Muscular Dystrophy	2009
Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Hanns Lochmuller et al.	Magnetic resonance imaging of cardiac function in mouse models for muscular dystrophy associated cardiomyopathy	2009
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Response to letter from Bernardi	2009
Dr Mark Hornsey Yen-Hui Chiu Dr Louise Jorgensen Dr Lars Klinge Dr Steven Laval et al.	The evaluation of novel therapeutic strategies for the treatment of dysferlinopathy	2009
Dr Louise Jorgensen Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	The stretch-activated calcium channel candidate proteins TRPC1 and 3 present a distinctly different expression pattern in mdx mice	2009
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 Lars Klinge Dr Steven Laval Dr Rita Barresi Professor Hanns Lochmuller Professor Volker Straub et al.	G.P.10.05:Preclinical drug trials in vestigating potential treatments for dysferlin deficiency	2008
Dr Lars Klinge Dr Steven Laval Dr Mark Hornsey Yen-Hui Chiu Professor Volker Straub et al.	G.P.10.06: Abnormal T-tubule morphology in dysferlin deficient muscle	2008
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Testing therapies in neuromuscular disease: Oral presentations	2008
Dr Steven Laval Dr Louise VB Anderson Professor Volker Straub Emerita Professor Katherine Bushby	AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration	2007
Dr Lars Klinge Dr Steven Laval Sharon Foster Faye Haldane Professor Volker Straub et al.	From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis	2007
Dr Lars Klinge Dr Steven Laval Professor Volker Straub Dr Rita Barresi Emerita Professor Katherine Bushby et al.	Membrane damage induces dysferlin translocation in early myogenesis	2007
Dr Steven Laval Emerita Professor Katherine Bushby	Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3	2006
Dr Lars Klinge Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby	Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein	2006
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 Steven Laval Emerita Professor Katherine Bushby	Dysferlin interacts with AHNAK: secondary reduction of AHNAK in dysferlinopathy patients	2006
Dr Vlad Seitan Dr Andrew Banks Dr Steven Laval Dr Sarah Newbury Professor Tom Strachan et al.	Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance	2006
Emeritus Professor Clarke Slater Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Dr Louise VB Anderson et al.	Altered protein localisation during muscle regeneration in humans and rats	2005
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 myopathy	2005
Dr Steven Laval Emerita Professor Katherine Bushby	Functional analysis of the dysferlin protein complex by phage display derived heavy chain antibody fragments	2005
Faye Haldane Dr Steven Laval Dr Louise VB Anderson Emerita Professor Katherine Bushby	Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display	2005
Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Dr Heiko Peters et al.	The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice	2005
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3	2004
Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Professor Hanns Lochmuller et al.	Cell culture, biochemical and microarray analyses of dysferlin	2004
Dr Steven Laval Emerita Professor Katherine Bushby	Characterisation of the dysferlin skeletal muscle promoter	2004
Dr Steven Laval Ilka Wappler Dr Lynsey Cree Faye Haldane Dr Heiko Peters et al.	Gene expression profiling in dysferlin-deficient marine muscle: differential gene expression in proximal and distal muscle groups	2004
Dr Steven Laval Emerita Professor Katherine Bushby	Limb-girdle muscular dystrophies - From genetics to molecular pathology	2004
Dr Steven Laval	Confirmatory evidence for linkage of relative hand skill to 2p12-q11 [4]	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
Rebecca Harrison Dr Steven Laval Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Characterisation of the dysferlin muscle promoter	2001
Sandra Campbell Dr Steven Laval Professor Ann Daly	Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis	2000