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Browsing publications by Dr Steven Laval.

Newcastle AuthorsTitleYearFull text
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 Dystrophy2016
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 syndrome2016
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 dystrophy2016
Dr Mojgan Reza
Dr Steven Laval
Dr Andreas Roos
Professor Hanns Lochmuller
Optimization of Internally Deleted Dystrophin Constructs2016
Stephanie Carr
Morten Ritso
Dr Andreas Roos
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Reversing mdx cardiomyocyte hypertrophy in vitro2016
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 symphalangism2015
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 Mice2015
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 catheter2015
Professor Gavin Richardson
Dr Steven Laval
Dr Andrew Owens
Cardiomyocyte regeneration in the mdx mouse model of non-ischemic cardiomyopathy2015
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 Oligonucleotides2015
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 dystrophy2015
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 atrophy2014
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 samples2014
Dr Rita Barresi
Dr Steven Laval
Professor Volker Straub
Dystrophin quantification Biological and translational research implications2014
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 mouse2014
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 myopathy2014
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 myopathy2014
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 Transmission2014
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 Defects2014
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 Mutation2013
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 Cardiomyopathy2013
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 anoctaminopathy2013
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 myopathy2013
Dr Debbie Hicks
Dr Steven Laval
Professor Hanns Lochmuller
Congenital myasthenic syndromes due to mutations in ALG2 and ALG142013
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 Mutations2013
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 mutations2013
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 cardiomyopathy2013
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 family2013
Dr Mark Hornsey
Dr Steven Laval
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Muscular dystrophy in dysferlin-deficient mouse models2013
Dr Mojgan Reza
Dr Steven Laval
Professor Hanns Lochmuller
Optimised dystrophin mini-constructs for gene delivery2013
Dr Annette Meeson
Dr Steven Laval
Dr Andrew Owens
Professor Gavin Richardson
The Cardiac Side Population is Dynamic during the Progression of Cardiomyopathy in the mdx Model of DMD2013
Professor Gavin Richardson
Dr Annette Meeson
Dr Steven Laval
Andrew Fuller
Dr Andrew Owens
et al.
mTert Expression is Increased in the mdx Model of Cardiomyopathy2012
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 Mouse2012
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 zebrafish2012
Dr Alison Blain
Liz Greally
Dr Guy MacGowan
Dr Steven Laval
Professor Andrew Blamire
et al.
Beta-blocker/ACE-inhibitor combination treatment in mdx mice2012
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 dystrophy2012
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 sequencing2012
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 zebrafish2012
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 dystrophy2012
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 models2012
Dr Mojgan Reza
Daniel Cox
Dr Steven Laval
Dr Amina Chaouch
Dr Rita Barresi
et al.
MRC NMD Centre Biobank: An overview2012
Professor Gavin Richardson
Dr Annette Meeson
Dr Steven Laval
Dr Andrew Owens
mTert Expression is Increased in the MDX Model of Cardiomyopathy2012
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 myopathy2012
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 dystrophy2011
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 dystrophy2011
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 deficiency2011
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 homeostasis2011
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 nucleases2011
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 defect2011
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 channel2011
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 Muscle2011
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 mouse2011
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 patients2011
Mafalda Cacciottolo
Dr Steven Laval
Emerita Professor Katherine Bushby
Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins2011
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 deficiency2010
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 dystrophy2010
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 syndromes2010
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 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 cardiomyopathy2010
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 zebrafish2010
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 myopathy2010
Dr Anna Sarkozy
Dr Rumaisa Bashir
Dr Debbie Hicks
Dr Rita Barresi
Dr Steven Laval
et al.
The first UK family with Ano5-associated myopathy2010
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 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-agonism2009
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 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 Dystrophy2009
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 cardiomyopathy2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Response to letter from Bernardi2009
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 dysferlinopathy2009
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 mice2009
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 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 deficiency2008
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 muscle2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Testing therapies in neuromuscular disease: Oral presentations2008
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 regeneration2007
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 myogenesis2007
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 myogenesis2007
Dr Steven Laval
Emerita Professor Katherine Bushby
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-32006
Dr Lars Klinge
Dr Steven Laval
Professor Volker Straub
Emerita Professor Katherine Bushby
Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein2006
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 Steven Laval
Emerita Professor Katherine Bushby
Dysferlin interacts with AHNAK: secondary reduction of AHNAK in dysferlinopathy patients2006
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 guidance2006
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 rats2005
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 Steven Laval
Emerita Professor Katherine Bushby
Functional analysis of the dysferlin protein complex by phage display derived heavy chain antibody fragments2005
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 display2005
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 mice2005
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 32004
Dr Steven Laval
Dr Lynsey Cree
Faye Haldane
Ilka Wappler
Professor Hanns Lochmuller
et al.
Cell culture, biochemical and microarray analyses of dysferlin2004
Dr Steven Laval
Emerita Professor Katherine Bushby
Characterisation of the dysferlin skeletal muscle promoter2004
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 groups2004
Dr Steven Laval
Emerita Professor Katherine Bushby
Limb-girdle muscular dystrophies - From genetics to molecular pathology2004
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 VI2003
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Rapid direct sequence analysis of the three genes encoding collagen VI2003
Rebecca Harrison
Dr Steven Laval
Dr Rumaisa Bashir
Emerita Professor Katherine Bushby
Characterisation of the dysferlin muscle promoter2001
Sandra Campbell
Dr Steven Laval
Professor Ann Daly
Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis2000