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Browsing publications by Professor Volker Straub.

Newcastle AuthorsTitleYearFull text
Dr Anna Mayhew
Meredith James
Dr ursula Moore
Helen Sutherland
Robert Muni Lofra
et al.
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach2022
Dr ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Lizzie Harris
et al.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study2022
Dr Claire Wood
Professor Volker Straub
Combined growth hormone and insulin-like growth factor-1 rescues growth retardation in glucocorticoid-treated mdxmice but does not prevent osteopenia2022
Meredith James
Dr Anna Mayhew
Emerita Professor Katherine Bushby
Professor Volker Straub
Comparison of strength testing modalities in dysferlinopathy2022
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Chris Speed
Jennifer Wilkinson
et al.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial2022
Dr Ana Topf
Dr Teresinha Evangelista
Professor Volker Straub
Professor John-Paul Taylor
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy2022
Chima Amadi
Becca Leary
Avril Palmeri
Victoria Hedley
Dr Anando Sen
et al.
How Can a Clinical Data Modelling Tool Be Used to Represent Data Items of Relevance to Paediatric Clinical Trials? Learning from the Conect4children (c4c) Consortium2022
Professor Volker Straub
Dr Michela Guglieri
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial2022
Dr Fiona Smith
Dr Ian Wilson
Roberto Fernandez-Torron
Meredith James
Dr Ursula Moore
et al.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy2022
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
Professor Michael Hanna
Dr Ana Topf
Professor Volker Straub
A form of muscular dystrophy associated with pathogenic variants in JAG22021
Dr Ana Topf
Professor Volker Straub
Dr Chiara Marini Bettolo
Dr Sabine Specht
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00901-1)2021
Dr Alex Murphy
Professor Volker Straub
Dr Stephen Lord
Dr John Bourke
Effects of cardiac medications on ventricular function in patients with Duchenne muscular dystrophy–related cardiomyopathy2021
Professor Volker Straub
Effects of Chronic, Maximal Phosphorodiamidate Morpholino Oligomer (PMO) Dosing on Muscle Function and Dystrophin Restoration in a Mouse Model of Duchenne Muscular Dystrophy2021
Daniel Cox
Professor Volker Straub
Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy2021
Emma Heslop
Catherine Turner
Anna Irvin
Professor Volker Straub
Dr Michela Guglieri
et al.
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead2021
Professor Elaine McColl
Dr Michela Guglieri
Professor Volker Straub
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy2021
Dr Sabine Specht
Professor Volker Straub
Intellectual disability in paediatric patients with genetic muscle diseases2021
Dr Timothy Cheetham
Professor Volker Straub
Dr Claire Wood
Measurement of salivary testosterone in adolescents and young men with Duchenne muscular dystrophy2021
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Michela Guglieri
Roberto Fernandez-Torron
et al.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease2021
Mark Richardson
Dr Anna Mayhew
Robert Muni Lofra
Dr Lindsay Murphy
Professor Volker Straub
et al.
Prevalence of pain within limb girdle muscular dystrophy r9 and implications for other degenerative diseases2021
Dr Claire Wood
Dr Kieren Hollingsworth
Dr Eric Hughes
Dr Sadha Punniyakodi
Robert Muni Lofra
et al.
Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area2021
Dr Nathalie Doorenweerd
Dr Chiara Marini Bettolo
Dr Kieren Hollingsworth
Professor Volker Straub
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients2021
Professor Jordi Diaz Manera
Professor Volker Straub
Dr Andres Nascimento Osorio
Dr Sabine Specht
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial2021
Dr Michela Guglieri
Professor Volker Straub
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy2021
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Alexander Henderson
Dr Tara Montgomery
et al.
The contribution of X-linked coding variation to severe developmental disorders2021
Dr Claire Wood
Dr Michela Guglieri
Professor Volker Straub
Dr Timothy Cheetham
The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy2021
Dr Alexander Murphy
Liz Greally
Dr Dara O'Hogain
Professor Andrew Blamire
Professor Volker Straub
et al.
Use of EP3533-Enhanced Magnetic Resonance Imaging as a Measure of Disease Progression in Skeletal Muscle of mdx Mice2021
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern2020
Dr Claire Wood
Professor Volker Straub
A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse2020
Jose Verdú-Díaz
Professor Volker Straub
Professor Jordi Diaz Manera
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies2020
Emine Bagdatlioglu
Dr Paola Porcari
Liz Greally
Professor Andrew Blamire
Professor Volker Straub
et al.
Cognitive impairment appears progressive in the mdx mouse2020
Professor Volker Straub
Dr Ana Topf
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity2020
Roberto Fernandez Torron
Dr Chiara Marini Bettolo
Dr Jana Haberlova
Professor Volker Straub
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging2020
Dr Jana Haberlova
Professor Volker Straub
Dr Chiara Marini Bettolo
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)2020
Dr David Bourn
Dr Richard Fisher
Alexander Henderson
Dr Miranda Splitt
Professor Volker Straub
et al.
Evidence for 28 genetic disorders discovered by combining healthcare and research data2020
Phillip Cammish
Dr Teresinha Evangelista
Professor Volker Straub
Dr Chiara Marini Bettolo
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020
Dr Lindsay Murphy
Agata Robertson
Dr Ana Topf
Professor Volker Straub
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R92020
Daniel Cox
Professor Volker Straub
High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia2020
Dr Katherine Johnson
Dr Ana Topf
Rachel Thompson
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies2020
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Professor Andrew Blamire
et al.
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy2020
Dr Michela Guglieri
Professor Volker Straub
Dr Anna Sarkozy
Dr Jana Haberlova
Roberto Fernandez-Torron
et al.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Charlotte Phillips Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Katherine Johnson
Professor Volker Straub
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification2020
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
Time-dependent diffusion MRI as a probe of microstructural changes in a mouse model of Duchenne muscular dystrophy2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy2019
Professor Volker Straub
236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 20182019
Daniel Cox
Matt Henderson
Professor Volker Straub
Dr Rita Barresi
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure2019
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a 1 year cohort study2019
Dr David Bourn
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
et al.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)2019
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein2019
Professor Andrew Blamire
Dr Kieren Hollingsworth
Professor Volker Straub
Exploration of new contrasts, targets, and MR imaging and spectroscopy techniques for neuromuscular disease-A workshop report of working group 3 of the biomedicine and molecular biosciences COST action BM1304 MYO-MRI2019
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr James Miller
et al.
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2019
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Professor Volker Straub
Fractures and Linear Growth in a Nationwide Cohort of Boys with Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results from the UK NorthStar Database2019
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Jordi Diaz Manera
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy2019
Dr Ana Topf
Professor Volker Straub
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES2019
Professor Jordi Diaz Manera
Professor Volker Straub
MYO-MRI diagnostic protocols in genetic myopathies2019
Dr Alex Murphy
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
Dr Kieren Hollingsworth
et al.
Natural history of limb girdle musclar dystrophy R9 over 6 years: searching for trial endpoints2019
Dr Alex Murphy
Liz Greally
Dr Dara O'Hogain
Professor Andrew Blamire
Professor Volker Straub
et al.
Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging2019
Dr Claire Wood
Dr Timothy Cheetham
Dr Kieren Hollingsworth
Dr Michela Guglieri
Dr Anna Mayhew
et al.
Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy2019
Dr Anna Mayhew
Meredith James
Professor Volker Straub
Performance of Upper Limb module for Duchenne muscular dystrophy2019
Dr Anna Mayhew
Robert Muni Lofra
Professor Volker Straub
Revised upper limb module for spinal muscular atrophy: 12 month changes2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
Dr Teresinha Evangelista
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain2019
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
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Ana Topf
Professor Volker Straub
Professor Jordi Diaz Manera
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement2018
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair2018
Dr Claire Wood
Professor Volker Straub
Bones and muscular dystrophies: what do we know?2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness2018
Lauren Charlotte Phillips Phillips
Professor Volker Straub
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients2018
Sarah Moore
Dr Katherine Johnson
Dr Teresinha Evangelista
Professor Volker Straub
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation2018
Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
Limb girdle muscular dystrophy due to mutations in POMT22018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy2018
Dr Chiara Marini Bettolo
Professor Volker Straub
MRI in sarcoglycanopathies: a large international cohort study2018
Professor Jordi Diaz Manera
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
et al.
Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials2018
Dr Alison Blain
Liz Greally
Dr Guy MacGowan
Professor Volker Straub
Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy2018
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
et al.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study2018
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
The effects of ageing on mouse muscle microstructure: A comparative study of time-dependent diffusion MRI and histological assessment.2018
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy2017
Lauren Charlotte Phillips Phillips
Dr Katherine Johnson
Dr Marta Bertoli
Professor Hanns Lochmuller
Professor Volker Straub
et al.
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr Oksana Pogoryelova
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Emerita Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period2017
Dr Katherine Johnson
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Professor Volker Straub
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]2017
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Professor Volker Straub
et al.
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness2017
Dr Ana Topf
Professor Volker Straub
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing2017
Brid Crowley
Professor Volker Straub
Dr Marta Bertoli
Multidisciplinary clinics2017
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
Professor Volker Straub
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments2017
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.
Prevalence and architecture of de novo mutations in developmental disorders2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
Dr Oksana Pogoryelova
Dr Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Dr Marta Bertoli
Dr Anne Lampe
Professor Volker Straub
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders2017
Professor Patrick Chinnery
Professor Hanns Lochmuller
Professor Volker Straub
Rachel Thompson
Catherine Turner
et al.
The Human Phenotype Ontology in 20172017
Libby Wood
Dr Isabell Cordts
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
et al.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research2017
Dr Eugen-Matthias Strehle
Dr Katherine Johnson
Professor Volker Straub
Two novel mutations in the FHL1 gene extending the phenotypic spectrum2017
Dr Umar Burki
Professor Volker Straub
Ultrasensitive hybridization-based ELISA method for the determination of phosphorodiamidate morpholino oligonucleotides in biological samples2017
Dr Rita Barresi
Professor Volker Straub
Professor Hanns Lochmuller
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy2016
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy2016
Dr Ana Topf
Dr Jelena Nikodinovic Glumac
Dr Marta Bertoli
Dr Katherine Johnson
Lauren Phillips
et al.
A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort2016
Dr Ana Topf
Emerita Professor Katherine Bushby
Professor Volker Straub
Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement2016
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al.
Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations2016
Professor Annemieke Aartsma-Rus
Professor Volker Straub
Professor Hanns Lochmuller
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy2016
Dr Claire Wood
Emerita Professor Katherine Bushby
Professor Volker Straub
David Rawlings
Dr Anna Sarkozy
et al.
Bisphosphonate use in Duchenne Muscular Dystrophy - why, when to start and when to stop?2016
Dr Hannah Steele
Dr Lizzie Harris
Dr Rita Barresi
Dr John Bourke
Professor Volker Straub
et al.
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study2016
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015)2016
Elena Martoni
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy2016
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
Diffusion MR investigation at 7T of a mouse model of Duchenne muscular dystrophy2016
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy2016
Lauren Phillips
Dr Ana Topf
Dr Katherine Johnson
Dr Marta Bertoli
Professor Volker Straub
et al.
Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing2016
Professor Simon Woods
Dr Pauline McCormack
Professor Hanns Lochmuller
Professor Volker Straub
Improving the informed consent process in international collaborative rare disease research: Effective consent for effective research2016
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 Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings2016
Dr Andreas Roos
Daniel Cox
Dr Mojgan Reza
Dr Michela Guglieri
Professor Volker Straub
et al.
MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience2016
Dr Tracey Willis
Dr Claire Wood
Dr Tuomo Polvikoski
Dr Rita Barresi
Professor Hanns Lochmuller
et al.
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion2016
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2016
Dr Michelle Eagle
Dr Anna Mayhew
Dr Michela Guglieri
Professor Volker Straub
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials2016
Dr Michela Guglieri
Dr Teresinha Evangelista
Professor Volker Straub
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness2016
David Rawlings
Dr Claire Wood
Dr Timothy Cheetham
Dr Cecilia Jimenez Moreno
Dr Anna Mayhew
et al.
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Dr Andreas Roos
Rachel Thompson
Professor Volker Straub
Professor Hanns Lochmuller
RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange2016
Dr Claire Wood
Professor Volker Straub
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr Timothy Cheetham
et al.
Short stature and pubertal delay in Duchenne muscular dystrophy2016
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Monica Ensini
Professor Annemieke Aartsma-Rus
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy2016
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al.
The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin2016
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Michela Guglieri
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials2016
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Hanns Lochmuller
et al.
The UK Myotonic Dystrophy Patient Registry2016
Professor Volker Straub
Dr Marta Bertoli
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?2016
Dr Henriette van Ruiten
Dr Chiara Marini Bettolo
Dr Timothy Cheetham
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England2016
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 Lizzie Harris
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Dr Rita Barresi
et al.
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome2015
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
Dr Lizzie Harris
Dr Ana Topf
Professor Volker Straub
Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations2015
Catherine Turner
Emerita Professor Katherine Bushby
Dr Louise Johnston
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease2015
Dr Alex Murphy
Dr Anna Porter
Dr John Bourke
Professor Volker Straub
Congenital myotonic dystrophy - implications for cardiology screening2015
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G2015
Professor Volker Straub
Olav Veldhuizen
Dr Marta Bertoli
Dr Michelle Eagle
Consortium for Products Across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD)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 Oligonucleotides2015
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT)2015
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
Diffusion MR study at 7T of hindlimb muscles in dystrophic mice2015
Dr Umar Burki
Professor Volker Straub
Elusive sources of variability of dystrophin rescue by exon skipping2015
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study2015
Dr Cecilia Jimenez Moreno
Dr Sira Moreno
Dr Michelle Eagle
Dr Anna Mayhew
Meredith James
et al.
Impact of three decades of improvement in standards of care for Duchenne muscular dystrophy2015
Professor Volker Straub
Dr Kieren Hollingsworth
Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes2015
Dr Paola Porcari
Liz Greally
Professor Volker Straub
Professor Andrew Blamire
In vivo diffusion MR study at 7T of hindlimb muscles in a mouse model of Duchenne muscular dystrophy2015
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 Stephen Lynn
Professor Annemieke Aartsma-Rus
Emerita Professor Katherine Bushby
Dr Anna Mayhew
Professor Volker Straub
et al.
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy2015
Dr Oksana Pogoryelova
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy2015
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Anna Sarkozy
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease2015
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials2015
Dr Henriette van Ruiten
Dr Michela Guglieri
Dr Michelle Eagle
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England2015
Dr Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Eugen-Matthias Strehle
Professor Volker Straub
Recent advances in the management of Duchenne muscular dystrophy2015
Professor Volker Straub
RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges2015
Olav Veldhuizen
Dr Claire Wood
Dr Alex Murphy
Rachel Thompson
Professor Volker Straub
et al.
ScanBank - The development of an online database for neuromuscular MRI scans2015
Dr Claire Wood
Dr Timothy Cheetham
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr Catherine Owen
et al.
Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy2015
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
Emma Heslop
Professor Volker Straub
Emerita Professor Katherine Bushby
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development2015
Emma Heslop
Professor Volker Straub
Dr Louise Johnston
Emerita Professor Katherine Bushby
The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development2015
Dr Catherine Bladen
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
et al.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations2015
Dr Amina Chaouch
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Professor Annemieke Aartsma-Rus
et al.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants2015
Dr Amina Chaouch
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies2014
Dr Michela Guglieri
Dr Anna Sarkozy
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations2014
Dr Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping2014
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
Dr Amina Chaouch
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Fibronectin is a serum biomarker for Duchenne muscular dystrophy2014
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review2014
Dr Michela Guglieri
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Improving the diagnosis of Duchenne muscular dystrophy2014
Dr Kieren Hollingsworth
Professor Volker Straub
Investigating the Quantitative Fidelity of Prospectively Undersampled Chemical Shift Imaging in Muscular Dystrophy with Compressed Sensing and Parallel Imaging Reconstruction2014
Dr Kieren Hollingsworth
Professor Volker Straub
Investigating the quantitative fidelity of prospectively undersampled chemical shift imaging in muscular dystrophy with compressed sensing and parallel imaging reconstruction2014
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 Catherine Bladen
Rachel Thompson
Dr Karen Rafferty
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe2014
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
Professor Volker Straub
Dr Rita Barresi
Dr Clare Morris
Emerita Professor Katherine Bushby
Preserved expression of truncated telethonin in a patient with LGMD2G2014
Dr Anna Sarkozy
David Rawlings
Dr Michela Guglieri
Dr Kate Owen
Professor Volker Straub
et al.
Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience2014
Dr Jana Haberlova
Dr Katarina Kranz
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy2014
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study2014
Dr Debbie Hicks
Professor Volker Straub
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice2014
Dr Ralf Bauer
Professor Volker Straub
S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice2014
Professor Volker Straub
Dr Michelle Eagle
Dr Michela Guglieri
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study2014
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
The burden of Duchenne muscular dystrophy: An international, cross-sectional study2014
Dr Louise Johnston
Rachel Thompson
Catherine Turner
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
The impact of integrated omics technologies for patients with rare diseases2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Professor Rita Horvath
Professor Volker Straub
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT22014
Dr Amina Chaouch
Dr Fiona Norwood
Professor Rita Horvath
Professor Patrick Chinnery
Dr Tuomo Polvikoski
et al.
Two recurrent mutations are associated with GNE myopathy in the North of Britain2014
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 Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Helen Griffin
Dr Hannah Elliott
et al.
A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure2013
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
Dr Michela Guglieri
et al.
Clinical and molecular analysis of a large cohort of patients with anoctaminopathy2013
Dr Debbie Hicks
Professor Volker Straub
Collagen type XII: A new congenital matrix and muscle disease2013
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 Mattia Calissano
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy2013
Professor Volker Straub
Dr Liesbeth De Waele
Dr Rita Barresi
Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE2013
Dr Amina Chaouch
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome2013
Dr Pauline McCormack
Professor Simon Woods
Emma Heslop
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational2013
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 Kieren Hollingsworth
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months2013
Professor Volker Straub
Dr Debbie Hicks
Natural history of pulmonary function in collagen VI-related myopathies2013
Professor Volker Straub
Dr Liesbeth De Waele
Dr Rita Barresi
Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF /Cavin, Integrin α 7, and Integrin α 92013
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Gerald Pfeffer
Dr Anna Sarkozy
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies2013
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study2013
Dr Kieren Hollingsworth
Dr Tracey Willis
Dr Matt Bates
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I2013
Sunil Rodger
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases2013
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 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 Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy2012
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Guy MacGowan
Professor Andrew Blamire
Professor Volker Straub
et al.
Cardiac MRI in LGMD2I patients2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Emerita Professor Katherine Bushby
et al.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Emerita Professor Katherine Bushby
et al.
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies2012
Julia Tonge
Professor Volker Straub
Professor Hanns Lochmuller
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
Clinical research activity in Newcastle MRC centre2012
Dr Nuria Muelas Gomez
Professor Michael Hanna
Dr Amina Chaouch
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations2012
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 Gerald Pfeffer
Dr Helen Griffin
Dr Hannah Elliott
Professor Volker Straub
Professor Patrick Chinnery
et al.
Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure2012
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
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Muscle MRI findings in limb girdle muscular dystrophy type 2L2012
Professor Volker Straub
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss2012
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Debbie Hicks
Dr Anna Sarkozy
et al.
NOVEL ANO5 GENE MUTATIONS, C.989DUPT AND C.2018A -> G CAUSING LIMB GIRDLE MUSCULAR DYSTROPHY 2L2012
Dr Anna Sarkozy
Dr Tuomo Polvikoski
Dr Michelle Eagle
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene2012
Dr Gerald Pfeffer
Dr Hannah Elliott
Dr Helen Griffin
Dr Rita Barresi
Professor Volker Straub
et al.
Titin mutation segregates with hereditary myopathy with early respiratory failure2012
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr 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
Dr 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 Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Assessing muscle pathology by MRI in LGMD2I2011
Professor Volker Straub
Dr Amina Chaouch
Professor Hanns Lochmuller
BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project2011
Dr Alison Blain
Professor Volker Straub
Delta-sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches2011
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.2011
Dr Michela Guglieri
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.2011
Dr Anna Mayhew
Dr Michelle Eagle
Dr Tracey Willis
Professor Volker Straub
Exploratory Rasch analysis of adapted North Star ambulatory assessment in LGMD 2I2011
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 Rita Barresi
Professor Volker Straub
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies2011
Dr Anna Mayhew
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Anna Sarkozy
et al.
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy2011
Dr Michela Guglieri
Dr Kieren Hollingsworth
Ewan Mercer
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Muscle histology vs MRI in Duchenne muscular dystrophy2011
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in LGMD2L2011
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
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 Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative MRI in LGMD2I; a longitudinal study2011
Dr Amina Chaouch
Dr Penelope Garrood
Professor Volker Straub
Professor Hanns Lochmuller
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)2011
Dr Amina Chaouch
Dr Penelope Garrood
Professor Volker Straub
Professor Hanns Lochmuller
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression2011
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 Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Assessing muscle pathology by MRI in LGMD2I2010
Dr Ralf Bauer
Dr Alison Blain
Liz Greally
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism2010
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
Professor Volker Straub
Dr Rita Barresi
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations2010
Dr Michelle Eagle
Dr Anna Mayhew
Dr Tracey Willis
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Functional outcome measures in limb girdle muscular dystrophy 21: Correlations with MRI2010
Professor Volker Straub
Emerita Professor Katherine Bushby
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations2010
Dr Anna Sarkozy
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation2010
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 Tracey Willis
Dr Kieren Hollingsworth
Professor Andrew Blamire
Dr Michelle Eagle
Emerita Professor Katherine Bushby
et al.
MRI in LGMD21: a qualitative and quantitative analysis using the 3 point Dixon technique2010
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in anoctaminopathy2010
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Dr Rita Barresi
et al.
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy2010
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
Emerita Professor Katherine Bushby
Professor Volker Straub
One gene, one or many diseases?: Simplifying dysferlinopathy2010
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion2010
Dr Anna Sarkozy
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Recurrent BAG3 gene mutation in a British family with two siblings with severe myofibrillar myopathy2010
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials2010
Professor Volker Straub
RYR1 mutations are a common cause of congenital myopathies with central nuclei2010
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
Dr Tracey Willis
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
An international registry for FKRP (fukutin-related protein) patients-the first international registry2009
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 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
Emerita Professor Katherine Bushby
Dr Stephen Lynn
Professor Volker Straub
Collaborating to bring new therapies to the patient - The TREAT-NMD model2009
Professor Volker Straub
Dr Alison Blain
Emerita Professor Katherine Bushby
Dr Guy MacGowan
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy2009
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 Ralf Bauer
Dr John Bourke
Daniel Routledge
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?2009
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
Professor Volker Straub
Dr Juliane Mueller
Professor Hanns Lochmuller
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations2009
Dr Rita Barresi
Professor Volker Straub
Erratum: Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): Clinical features including sphincter disturbance in a large pedigree (Journal of Neurology, Neurosurgery and Psychiatry (2009) 80 (583-584))2009
Dr Ralf Bauer
Dr John Hudson
Dr John Bourke
Daniel Routledge
Emerita Professor Katherine Bushby
et al.
G.P.10.02: Does delta-sarcoglycan-associated autosomal dominant cardiomyopathy exist?2009
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 Rita Barresi
Professor Volker Straub
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree2009
Professor Patrick Chinnery
Professor Volker Straub
Emerita Professor Katherine Bushby
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.2009
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Stephen Lynn
Professor Volker Straub
Interventions for muscular dystrophy:molecular medicines entering the clinic2009
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study2009
Dr Daniel Birchall
Professor Volker Straub
Professor Hanns Lochmuller
Professor Patrick Chinnery
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation2009
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 Penelope Garrood
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Benjamin Aribisala
Dr Daniel Birchall
et al.
MR Imaging in Duchenne Muscular Dystrophy: Quantification of T-1-Weighted Signal, Contrast Uptake, and the Effects of Exercise2009
Dr Timothy Cheetham
Professor Simon Pearce
David Rawlings
Dr Michelle Eagle
Dr Michela Guglieri
et al.
Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy2009
Dr Fiona Norwood
Professor Patrick Chinnery
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population2009
Dr Ralf Bauer
Professor Volker Straub
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors2009
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
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Dr Eugen-Matthias Strehle
Professor Volker Straub
13th International WMS Congress, 29th September - 2nd October 2008, Newcastle Gateshead, UK2008
Professor Volker Straub
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands2008
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Professor Volker Straub
A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Rita Barresi
Dr Richard Charlton
Professor Hanns Lochmuller
et al.
A refined diagnostic algorithm for Bethlem myopathy2008
Professor Volker Straub
Professor Hanns Lochmuller
An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL12008
Professor Volker Straub
Emerita Professor Katherine Bushby
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation2008
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 Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Clinical follow up in a large cohort of patients affected by Myotonic Dystrophy type2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.02: Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.03: Clinical follow up in a large cohort of patients affected by myotonic dystrophy type 12008
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 Michela Guglieri
Dr Michelle Eagle
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Delayed development and learning difficulties as a predominant symptom in female carriers of Duchenne and Becker muscular dystrophy2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Paul Thornhill
Dr David Bassett
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)2008
Professor Volker Straub
Differential Diagnosis and Potential Misdiagnoses of Pompe Disease2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Dysferlin-deficient muscular dystrophy features amyloidosis2008
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 Ralf Bauer
Professor Volker Straub
Dr Alison Blain
Emerita Professor Katherine Bushby
Dr Guy MacGowan
et al.
In-vivo direct and indirect myocardial effects of captopril in the mdx mouse2008
Dr Michela Guglieri
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Is assessment of respiratory function a good outcome measure for SMA II and III?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 spectrum2008
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Limb-girdle muscular dystrophies2008
Dr Penelope Garrood
Dr Kieren Hollingsworth
Dr Benjamin Aribisala
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
MRI in Duchenne muscular dystrophy: Tracking progression2008
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy2008
Dr Paul Thornhill
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Neuromuscular junction formation in Dok-7 deficient zebrafish embryos2008
Dr Anna Sarkozy
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene2008
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 Ralf Bauer
Dr Guy MacGowan
Dr Alison Blain
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy2008
Dr Ralf Bauer
Dr Guy MacGowan
Dr Alison Blain
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
T.P.4.09: Left ventricular remodeling after steroid therapy in the mdx mouse2008
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 Volker Straub
Emerita Professor Katherine Bushby
Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity...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 regeneration2007
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
Professor Volker Straub
Dynamic control of a central pattern generator circuit: a computational model of the snail feeding network2007
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 Steven Laval
Sharon Foster
Faye Haldane
Professor Volker Straub
et al.
From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis2007
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Long term steroid use in non-ambulatory patients with Duchenne muscular dystrophy2007
Dr Michelle Eagle
Dr John Bourke
Dr Robert Bullock
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Managing Duchenne muscular dystrophy - The additive effect of spinal surgery and home nocturnal ventilation in improving survival2007
Professor Hanns Lochmuller
Professor Volker Straub
MD-NET - Muscular dystrophy network2007
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
Professor Volker Straub
Modulation of serotonergic neurotransmission by nitric oxide2007
Hongwei Zhou
Emerita Professor Katherine Bushby
Professor Volker Straub
Rachel Appleton
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies2007
Dr Penelope Garrood
Dr Kieren Hollingsworth
Professor Peter Thelwall
Dr Daniel Birchall
Dr Michelle Eagle
et al.
MRI in Duchenne muscular dystrophy: Quantification of fat infiltration and gadolinium uptake using whole-muscle regions of interest2007
Professor Volker Straub
Dr Rita Barresi
Emerita Professor Katherine Bushby
Muscle biopsy immunoanalysis and genetic outcome2007
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Myoglobinuria in steroid-treated Duchenne muscular dystrophy2007
Professor Volker Straub
Emerita Professor Katherine Bushby
Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan2007
Professor Volker Straub
Emerita Professor Katherine Bushby
Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies2007
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Steroids in Duchenne muscular dystrophy (DMD): Natural history and clinical evaluation using the North Star Ambulatory Assessment (NSAA)2007
Emerita Professor Katherine Bushby
Dr Fiona Norwood
Professor Volker Straub
The limb-girdle muscular dystrophies-Diagnostic strategies2007
Emerita Professor Katherine Bushby
Dr Fiona Norwood
Professor Volker Straub
The limb-girdle muscular dystrophies--diagnostic strategies2007
Professor Volker Straub
Associative memory stored by functional novel pathway rather than modifications of preexisting neuronal pathways2006
Professor Volker Straub
Emerita Professor Katherine Bushby
Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene2006
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
Professor Volker Straub
Effects of age on feeding behavior and chemosensory processing in the pond snail, Lymnaea stagnalis2006
Professor Volker Straub
Inflammation in dystrophies2006
Emerita Professor Katherine Bushby
Professor Volker Straub
Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations2006
Dr Anna Sarkozy
Dr Richard Charlton
Dr Michelle Eagle
Professor Patrick Chinnery
Professor Volker Straub
et al.
Phenotypic variability associated with desmin gene mutations2006
Professor Volker Straub
Emerita Professor Katherine Bushby
RYR1 genotype-phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations2006
Dr Richard Charlton
Dr Lars Klinge
Emerita Professor Katherine Bushby
Professor Volker Straub
Sarcoglycanopathy - Can immunoanalyses accurately predict the genotype?2006
Dr Lars Klinge
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Severe phenotype in infantile facioscapulohumeral muscular dystrophy2006
Professor Volker Straub
Emerita Professor Katherine Bushby
The Childhood Limb-Girdle Muscular Dystrophies2006
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 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 Michelle Eagle
David Rawlings
Professor Volker Straub
Emerita Professor Katherine Bushby
Bone density in patients with Duchenne muscular dystrophy (DMD)2005
Dr Lars Klinge
Professor Volker Straub
Enzyme replacement therapy in classical infantile Pompe disease: Results of a ten-month follow-up study2005
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Limb girdle muscular dystrophies - Dominant forms; Poster presentations2005
Professor Volker Straub
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene2005
Emerita Professor Katherine Bushby
Professor Volker Straub
Nonmolecular treatment for muscular dystrophies2005
Dr Fiona Norwood
Professor Patrick Chinnery
Emerita Professor Katherine Bushby
Professor Volker Straub
On the classification, natural history and treatment of the myopathies' 50 years on: population study of muscle disease in the Northern region of England2005
Professor Volker Straub
Results of the ENMC workshop on medical management in glycogen storage disease type II2005
Dr Lars Klinge
Professor Volker Straub
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial2005
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 Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
The impact of corticosteroids on forced vital capacity in Duchenne muscular dystrophy2005
Emerita Professor Katherine Bushby
Professor Volker Straub
The most common mutation in FKRP causing limb girdle muscular dystrophy type 21 (LGMD2I) may have occurred only once and is present in Hutterites and other populations2005
Professor Volker Straub
Timed and targeted differential regulation of nitric oxide synthase (NOS) and anti-NOS genes by reward conditioning leading to long-term memory formation2005
Emerita Professor Katherine Bushby
Professor Volker Straub
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop 9-11 November 2002, Naarden, The Netherlands2004
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Professor Volker Straub
A new mutation in the transmembrane domain of Caveolin-3 in a patient with percussion-induced rapid muscle contractions2004
Professor Volker Straub
Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI2004
Dr John Bourke
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I2004
Dr Steven Laval
Dr Lynsey Cree
Faye Haldane
Ilka Wappler
Professor Hanns Lochmuller
et al.
Cell culture, biochemical and microarray analyses of dysferlin2004
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 Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Experience of applying the UK consensus on the use of corticosteroids in DMD2004
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
Professor Chris Day
Professor Volker Straub
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures2004
Professor Volker Straub
Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark2004
Professor Volker Straub
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome2004
Professor Volker Straub
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I2004
Emerita Professor Katherine Bushby
Professor Volker Straub
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once2004
Emerita Professor Katherine Bushby
Professor Volker Straub
114th ENMC Internation Workshop on Congenital Muscular Dystrophy (CMD)2003
Emerita Professor Katherine Bushby
Professor Volker Straub
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)2003
Professor Volker Straub
Emerita Professor Katherine Bushby
A common founder mutation in FKRP causes limb girdle muscular dystrophy type 21 (LGMD21) in both Hutterite and European populations2003
Professor Volker Straub
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy2003
Professor Volker Straub
Phenotypic spectrum associated with mutations in the fukutin-related protein gene2003
Professor Volker Straub
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease2003
Emerita Professor Katherine Bushby
James Hewitt
Professor Volker Straub
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD)2002
Emerita Professor Katherine Bushby
Professor Volker Straub
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE26-28th October, 2001, Naarden, The Netherlands2002
Professor Volker Straub
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene2002
Professor Volker Straub
Airway nitric oxide in Duchenne muscular dystrophy2002
Professor Volker Straub
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD2002
Professor Volker Straub
Deficiency of alpha-dystroglycan in muscle-eye-brain disease2002
Professor Volker Straub
Endogenous and network properties of Lymnaea feeding central pattern generator interneurons2002
Professor Volker Straub
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies2002
Dr Rita Barresi
Professor Volker Straub
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies2002
Professor Volker Straub
Suppression of nitric oxide (NO)-dependent behavior by double-stranded RNA-mediated silencing of a neuronal NO synthase gene2002
Professor Volker Straub
Extrinsic modulation and motor pattern generation in a feeding network: a cellular study2001
Professor Volker Straub
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT12001
Dr Louise VB Anderson
Dr Rumaisa Bashir
Professor Volker Straub
Emerita Professor Katherine Bushby
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C2001
Professor Volker Straub
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene2001
Professor Volker Straub
Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy2000
Professor Volker Straub
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy2000
Professor Volker Straub
Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice2000
Professor Volker Straub
Dr Rita Barresi
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy1999
Professor Volker Straub
epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex1999
Professor Volker Straub
Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex1999