Dr Marianela Schiava Dr John Bourke Professor Jordi Diaz Manera Anna Johnson Dr Maha Elseed et al. | Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy | 2025 |
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Jose Verdú-Díaz Dr Ana Topf Dr Leonela Luce Dr Jennifer Duff Magdalena Mroczek et al. | Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy | 2025 |
|
Dr Maha Elseed Dr James Sampson Dr Tuomo Polvikoski Matt Henderson Yolande Parkhurst et al. | Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy | 2025 |
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Avril Palmeri Dr Anando Sen Victoria Hedley Becca Leary Professor Volker Straub et al. | Paediatric-specific content in data standards for health | 2025 |
|
Professor Volker Straub
| FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6 | 2024 |
|
Alba Segarra Casas Yolande Parkhurst Robert Muni Lofra Professor Chiara Marini Bettolo Professor Volker Straub et al. | An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy | 2024 |
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Dr Doaa Salman Carla Bolaño Diaz Robert Muni Lofra Karen Wong Dr Maha Elseed et al. | Axial involvement as a prominent feature in SMPX-related distal myopathy | 2024 |
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Dr Ana Topf Dr Karin Engelhardt Professor Sophie Hambleton Professor Jordi Diaz Manera Professor Chiara Marini Bettolo et al. | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 2024 |
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Dr Alexandra Monceau Esther Fernández-Simón Dr Elisa Villalobos Villegas James Clark Panos Katsikis et al. | Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression | 2024 |
|
Dr Anando Sen Avril Palmeri Professor Volker Straub
| Development of the CDISC Pediatrics User Guide: A conect4children and CDISC Collaboration | 2024 |
|
Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | 2024 |
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Dr Marianela Schiava Robert Muni Lofra Dr John Bourke Meredith James Professor Jordi Diaz Manera et al. | Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy | 2024 |
|
Professor Volker Straub Dr Ana Topf
| Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy | 2024 |
|
Professor Michela Guglieri Dr Jana Haberlova Professor Volker Straub Dr Liesbeth De Waele
| Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy; A Randomized Controlled Trial | 2024 |
|
Dr Marianela Schiava Dr John Bourke Meredith James Dr Maha Elseed Dr Monika Malinova et al. | Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids | 2024 |
|
Patricia Pinol Jurado Jose Verdú-Díaz Esther Fernández-Simón Dr Conor Lawless Dr Amy Vincent et al. | Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration | 2024 |
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Dr Anando Sen Victoria Hedley Avril Palmeri Joanne Lee Sonia Segovia et al. | Learning from Conect4children: A Collaborative Approach towards Standardization of Disease-Specific Paediatric Research Data | 2024 |
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Dr Ana Topf Dr Jennifer Duff Dr Lizzie Harris Professor Chiara Marini Bettolo Professor Volker Straub et al. | Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement | 2024 |
|
Professor Volker Straub
| Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study | 2024 |
|
Dr Ursula Moore Dr Anna Mayhew Heather Hilsden Dr Hai The Pham Meredith James et al. | Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy | 2024 |
|
Victoria Hedley Becca Leary Dr Anando Sen Anna Irvin Emma Heslop et al. | Performing clinical drug trials in children with a rare disease | 2024 |
|
Dr Nathalie Doorenweerd Dr Kieren Hollingsworth Professor Volker Straub
| Probing diffusion of water and metabolites to assess white matter microstructure in Duchenne muscular dystrophy | 2024 |
|
Dr Mary Neal Carla Bolaño Diaz Mark Richardson Jassi Michell-Sodhi Robert Muni Lofra et al. | Rapid quantitative assessment of muscle sodium dynamics after exercise using 23Na-MRI in dysferlinopathy and healthy controls | 2024 |
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Avril Palmeri Dr Anando Sen Joanne Lee Victoria Hedley Jessie Trueman et al. | The European Health Data Space needs to be relevant for paediatric data to support future medicines development for children – a conect4children viewpoint | 2024 |
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Dr Marianela Schiava Jose Verdú-Díaz Professor Giorgio Tasca Professor Volker Straub Professor Chiara Marini Bettolo et al. | Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis | 2023 |
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Esther Fernández-Simón Patricia Pinol Jurado Dr Elisa Villalobos Villegas Dr Alexandra Monceau Dr Marianela Schiava et al. | Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations | 2023 |
|
Professor Volker Straub Professor Michela Guglieri
| DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials | 2023 |
|
Dr Ursula Moore Carla Bolaño Diaz Meredith James Professor Andrew Blamire Georgina Boyle et al. | Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern | 2023 |
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Dr Claire Wood Dr Kieren Hollingsworth Edrina Bokaie Dr Eric Hughes Robert Muni Lofra et al. | Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy? | 2023 |
|
Dr Ana Topf Dr Jennifer Duff Dr Richard Charlton Professor Volker Straub
| Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure | 2023 |
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Professor Giorgio Tasca Professor Chiara Marini Bettolo Dr Ana Topf Professor Michela Guglieri Professor Volker Straub et al. | Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis | 2023 |
|
Dr Ursula Moore Esther Fernández-Simón Dr Marianela Schiava Daniel Cox Meredith James et al. | Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy | 2023 |
|
Dr William Macken Dr Mahmoud Fassad Dr Fei Gao Krutik Patel Dr Ana Topf et al. | Neuromuscular disease genetics in under-represented populations: increasing data diversity | 2023 |
|
Professor Volker Straub Professor Michela Guglieri
| T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy | 2023 |
|
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al. | The John Walton Muscular Dystrophy Research Centre Biobank | 2023 |
|
Meredith James Dr Michelle Eagle Robert Muni Lofra Dr ursula Moore Professor Michela Guglieri et al. | Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale | 2022 |
|
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 Approach | 2022 |
|
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 study | 2022 |
|
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 osteopenia | 2022 |
|
Meredith James Dr Anna Mayhew Emerita Professor Katherine Bushby Professor Volker Straub
| Comparison of strength testing modalities in dysferlinopathy | 2022 |
|
Professor Michela Guglieri Emerita Professor Katherine Bushby Emerita 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 Trial | 2022 |
|
Professor Volker Straub
| Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea | 2022 |
|
Dr Ana Topf Dr Teresinha Evangelista Professor Volker Straub Professor John-Paul Taylor
| Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy | 2022 |
|
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) Consortium | 2022 |
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Dr ursula Moore Professor Volker Straub Dr Rita Barresi Professor Michela Guglieri Dr Hannah Hayhurst et al. | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy | 2022 |
|
Daniel Cox Professor Volker Straub
| Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice | 2022 |
|
Professor Volker Straub Professor 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 Trial | 2022 |
|
Dr Anna Mayhew Professor Volker Straub Professor Chiara Marini Bettolo
| Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement | 2022 |
|
Dr Anando Sen Victoria Hedley Avril Palmeri Joanne Lee Becca Leary et al. | Standardizing paediatric clinical data: The development of the conect4children (c4c) cross cutting paediatric data dictionary | 2022 |
|
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 dysferlinopathy | 2022 |
|
Dr Anando Sen Avril Palmeri Becca Leary Professor Volker Straub
| Understanding paediatric data standards challenges through academia-industry partnerships: A conect4children (c4c) qualitative study | 2022 |
|
Meredith James Robert Muni Lofra Dionne Moat Mark Richardson Dr Michelle Eagle et al. | Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies | 2022 |
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Dr ursula Moore Dr Fiona Smith Dr Ian Wilson Meredith James Dr Anna Mayhew et al. | Water T2 could predict functional decline in patients with dysferlinopathy | 2022 |
|
Dr Sabine Specht Dr Jennifer Duff Dr Richard Charlton Dr Tuomo Polvikoski Dr Rita Barresi et al. | A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A | 2021 |
|
Professor Michael Hanna Dr Ana Topf Professor Volker Straub
| A form of muscular dystrophy associated with pathogenic variants in JAG2 | 2021 |
|
Dr Ana Topf Professor Volker Straub Professor 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 cardiomyopathy | 2021 |
|
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 Dystrophy | 2021 |
|
Daniel Cox Professor Volker Straub
| Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy | 2021 |
|
Emma Heslop Catherine Turner Anna Irvin Professor Volker Straub Professor Michela Guglieri et al. | Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead | 2021 |
|
Emerita Professor Elaine McColl Professor Michela Guglieri Professor Volker Straub
| Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy | 2021 |
|
Dr Sabine Specht Professor Volker Straub
| Intellectual disability in paediatric patients with genetic muscle diseases | 2021 |
|
Professor Timothy Cheetham Professor Volker Straub Dr Claire Wood
| Measurement of salivary testosterone in adolescents and young men with Duchenne muscular dystrophy | 2021 |
|
Dr Ursula Moore Meredith James Dr Anna Mayhew Professor Michela Guglieri Roberto Fernandez-Torron et al. | Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease | 2021 |
|
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 diseases | 2021 |
|
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 area | 2021 |
|
Dr Nathalie Doorenweerd Professor Chiara Marini Bettolo Dr Kieren Hollingsworth Professor Volker Straub
| Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients | 2021 |
|
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 trial | 2021 |
|
Professor Jordi Diaz Manera Professor Volker Straub
| Skeletal muscle magnetic resonance imaging in Pompe disease | 2021 |
|
Professor Michela Guglieri Professor Volker Straub
| The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy | 2021 |
|
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 disorders | 2021 |
|
Dr Claire Wood Dr Jonathon Foggin Professor Michela Guglieri Professor Volker Straub Professor Timothy Cheetham et al. | The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy | 2021 |
|
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 Mice | 2021 |
|
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 pattern | 2020 |
|
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 mouse | 2020 |
|
Jose Verdú-Díaz Professor Giorgio Tasca Professor Volker Straub Professor Jordi Diaz Manera
| Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies | 2020 |
|
Emine Bagdatlioglu Dr Paola Porcari Liz Greally Professor Andrew Blamire Professor Volker Straub et al. | Cognitive impairment appears progressive in the mdx mouse | 2020 |
|
Professor Volker Straub Dr Ana Topf
| Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity | 2020 |
|
Roberto Fernandez Torron Professor Chiara Marini Bettolo Dr Jana Haberlova Professor Volker Straub Professor Giorgio Tasca et al. | Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging | 2020 |
|
Professor Giorgio Tasca Dr Jana Haberlova Professor Volker Straub Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al. | 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 data | 2020 |
|
Phillip Cammish Dr Teresinha Evangelista Professor Volker Straub Professor Chiara Marini Bettolo
| Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms | 2020 |
|
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 FLNC | 2020 |
|
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 R9 | 2020 |
|
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 dyslipidemia | 2020 |
|
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 Myopathies | 2020 |
|
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 Dysferlinopathy | 2020 |
|
Professor Michela Guglieri Professor Volker Straub Dr Anna Sarkozy Dr Jana Haberlova Professor Giorgio Tasca et al. | New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy | 2020 |
|
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 weakness | 2020 |
|
Dr Katherine Johnson Professor Volker Straub
| The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification | 2020 |
|
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 dystrophy | 2020 |
|
Dr Katherine Johnson Dr Ana Topf Professor Jordi Diaz Manera Professor Volker Straub
| POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy | 2019 |
|
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 2018 | 2019 |
|
Professor Giorgio Tasca Professor Volker Straub
| 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019 | 2019 |
|
Daniel Cox Matt Henderson Professor Volker Straub Dr Rita Barresi
| A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film | 2019 |
|
Dr Katherine Johnson Dr Ana Topf Professor Volker Straub
| ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure | 2019 |
|
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 study | 2019 |
|
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 protein | 2019 |
|
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-MRI | 2019 |
|
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 population | 2019 |
|
Emerita Professor Katherine Bushby Professor 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 Database | 2019 |
|
Professor Giorgio Tasca Professor Chiara Marini Bettolo Professor Volker Straub Professor Jordi Diaz Manera
| Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy | 2019 |
|
Dr Ana Topf Professor Volker Straub
| Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES | 2019 |
|
Professor Jordi Diaz Manera Professor Giorgio Tasca Professor Volker Straub
| MYO-MRI diagnostic protocols in genetic myopathies | 2019 |
|
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 endpoints | 2019 |
|
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 imaging | 2019 |
|
Dr Claire Wood Professor Timothy Cheetham Dr Kieren Hollingsworth Professor Michela Guglieri Dr Anna Mayhew et al. | Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy | 2019 |
|
Dr Anna Mayhew Meredith James Professor Volker Straub
| Performance of Upper Limb module for Duchenne muscular dystrophy | 2019 |
|
Dr Anna Mayhew Robert Muni Lofra Professor Volker Straub
| Revised upper limb module for spinal muscular atrophy: 12 month changes | 2019 |
|
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 domain | 2019 |
|
Dr Lizzie Harris Professor Chiara Marini Bettolo Dr Ana Topf Dr Rita Barresi Dr Tuomo Polvikoski et al. | MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes | 2018 |
|
Rebecca Crow Emerita 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 trial | 2018 |
|
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 involvement | 2018 |
|
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 pair | 2018 |
|
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 weakness | 2018 |
|
Lauren Charlotte Phillips Phillips Professor Volker Straub
| Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients | 2018 |
|
Sarah Moore Dr Katherine Johnson Dr Teresinha Evangelista Professor Volker Straub
| FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation | 2018 |
|
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub
| Limb girdle muscular dystrophy due to mutations in POMT2 | 2018 |
|
Dr Marta Bertoli Professor 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 dystrophy | 2018 |
|
Professor Giorgio Tasca Professor Jordi Diaz Manera Professor Chiara Marini Bettolo Professor Volker Straub
| MRI in sarcoglycanopathies: a large international cohort study | 2018 |
|
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 trials | 2018 |
|
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 dystrophy | 2018 |
|
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 study | 2018 |
|
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 dystrophy | 2017 |
|
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 population | 2017 |
|
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 dystrophy | 2017 |
|
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 Database | 2017 |
|
Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al. | Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains | 2017 |
|
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 period | 2017 |
|
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 |
|
Professor Michela Guglieri Emerita Professor Katherine Bushby Emerita Professor Elaine McColl Dr Jennifer Wilkinson Dr Michelle Eagle et al. | Developing standardized corticosteroid treatment for Duchenne muscular dystrophy | 2017 |
|
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 Dystrophy | 2017 |
|
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 weakness | 2017 |
|
Dr Ana Topf Professor Volker Straub
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing | 2017 |
|
Brid Crowley Professor Volker Straub Dr Marta Bertoli
| Multidisciplinary clinics | 2017 |
|
Dr Andreas Roos Daniel Cox Professor Chiara Marini Bettolo Dr Rita Barresi Dr Richard Charlton et al. | Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment | 2017 |
|
Professor Volker Straub
| Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments | 2017 |
|
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 disorders | 2017 |
|
Dr Lizzie Harris Dr Rita Barresi Professor Chiara Marini Bettolo Dr Ana Topf Professor Volker Straub et al. | Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion | 2017 |
|
Dr Oksana Pogoryelova Professor Michela Guglieri Professor Chiara Marini Bettolo Professor Volker Straub Dr Teresinha Evangelista et al. | Reduced serum myostatin concentrations associated with genetic muscle disease progression | 2017 |
|
Libby Wood Professor Chiara Marini Bettolo Professor Michela Guglieri Dr Grace McMacken Dr Anna Mayhew et al. | Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy | 2017 |
|
Dr Marta Bertoli Dr Anne Lampe Professor Volker Straub
| Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders | 2017 |
|
Professor Patrick Chinnery Professor Hanns Lochmuller Professor Volker Straub Rachel Thompson Catherine Turner et al. | The Human Phenotype Ontology in 2017 | 2017 |
|
Libby Wood Dr Isabell Cordts Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub et al. | The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research | 2017 |
|
Dr Eugen-Matthias Strehle Dr Katherine Johnson Professor Volker Straub
| Two novel mutations in the FHL1 gene extending the phenotypic spectrum | 2017 |
|
Dr Umar Burki Professor Volker Straub
| Ultrasensitive hybridization-based ELISA method for the determination of phosphorodiamidate morpholino oligonucleotides in biological samples | 2017 |
|
Dr Rita Barresi Professor Volker Straub Professor Hanns Lochmuller
| A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy | 2016 |
|
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 dystrophy | 2016 |
|
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 cohort | 2016 |
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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 involvement | 2016 |
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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 mutations | 2016 |
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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 Dystrophy | 2016 |
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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 |
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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 study | 2016 |
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Dr Anna Mayhew Dr Michelle Eagle Professor 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 |
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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 myopathy | 2016 |
|
Dr Paola Porcari Liz Greally Professor Volker Straub Professor Andrew Blamire
| Diffusion MR investigation at 7T of a mouse model of Duchenne muscular dystrophy | 2016 |
|
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub
| Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy | 2016 |
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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 sequencing | 2016 |
|
Emeritus 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 research | 2016 |
|
Emine Bagdatlioglu Dr Paola Porcari Dr Dara O'Hogain Liz Greally Dr Steven Laval et al. | Investigating the CNS in mouse models for Duchenne muscular dystrophy | 2016 |
|
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub
| Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings | 2016 |
|
Dr Andreas Roos Daniel Cox Dr Mojgan Reza Professor Michela Guglieri Professor Volker Straub et al. | MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience | 2016 |
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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 deletion | 2016 |
|
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 UK | 2016 |
|
Dr Michelle Eagle Dr Anna Mayhew Professor Michela Guglieri Professor Volker Straub
| Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials | 2016 |
|
Professor Michela Guglieri Dr Teresinha Evangelista Professor Volker Straub
| Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness | 2016 |
|
David Rawlings Dr Claire Wood Professor Timothy Cheetham Dr Cecilia Jimenez Moreno Dr Anna Mayhew et al. | Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy | 2016 |
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Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby
| Quantifying the burden of caregiving in Duchenne muscular dystrophy | 2016 |
|
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 exchange | 2016 |
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Dr Claire Wood Professor Volker Straub Professor Michela Guglieri Emerita Professor Katherine Bushby Professor Timothy Cheetham et al. | Short stature and pubertal delay in Duchenne muscular dystrophy | 2016 |
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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 dystrophy | 2016 |
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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 origin | 2016 |
|
Emerita Professor Katherine Bushby Professor Volker Straub Professor Michela Guglieri
| The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials | 2016 |
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Dr Nikoletta Nikolenko Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub Professor Hanns Lochmuller et al. | The UK Myotonic Dystrophy Patient Registry | 2016 |
|
Professor Volker Straub Dr Marta Bertoli
| Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies? | 2016 |
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Dr Henriette van Ruiten Professor Chiara Marini Bettolo Professor 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 England | 2016 |
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Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al. | A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism | 2015 |
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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 syndrome | 2015 |
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Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al. | Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice | 2015 |
|
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al. | Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter | 2015 |
|
Dr Lizzie Harris Dr Ana Topf Professor Volker Straub
| Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations | 2015 |
|
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 disease | 2015 |
|
Dr Alex Murphy Dr Anna Porter Dr John Bourke Professor Volker Straub
| Congenital myotonic dystrophy - implications for cardiology screening | 2015 |
|
Dr Rita Barresi Emerita Professor Katherine Bushby Professor Volker Straub
| Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G | 2015 |
|
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 Oligonucleotides | 2015 |
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Dr Anna Mayhew Dr Michelle Eagle Professor 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 mice | 2015 |
|
Dr Umar Burki Professor Volker Straub
| Elusive sources of variability of dystrophin rescue by exon skipping | 2015 |
|
Professor Michela Guglieri Professor Volker Straub Professor Giorgio Tasca
| Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA | 2015 |
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Professor 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 Study | 2015 |
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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 dystrophy | 2015 |
|
Professor Volker Straub Dr Kieren Hollingsworth
| Improving highly accelerated fat fraction measurements for clinical trials in muscular dystrophy: origin and quantitative effect of R2* changes | 2015 |
|
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 dystrophy | 2015 |
|
Emine Bagdatlioglu Liz Greally Dr Paola Porcari Dr Steven Laval Professor Andrew Blamire et al. | Investigating the effect of dystrophin deficiency on brain function in mouse models of Duchenne muscular dystrophy | 2015 |
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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 dystrophy | 2015 |
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Dr Oksana Pogoryelova Professor 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 Dystrophy | 2015 |
|
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 disease | 2015 |
|
Dr Michelle Eagle Professor Michela Guglieri Professor Volker Straub
| Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials | 2015 |
|
Dr Henriette van Ruiten Professor 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 England | 2015 |
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Dr Teresinha Evangelista Dr Boglarka Bansagi Dr Angela Pyle Dr Helen Griffin Dr Konstantinos Douroudis et al. | Phenotypic variability of TRPV4 related neuropathies | 2015 |
|
Dr Eugen-Matthias Strehle Professor Volker Straub
| Recent advances in the management of Duchenne muscular dystrophy | 2015 |
|
Professor Volker Straub
| RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges | 2015 |
|
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 scans | 2015 |
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Dr Claire Wood Professor Timothy Cheetham Professor Michela Guglieri Emerita Professor Katherine Bushby Dr Catherine Owen et al. | Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy | 2015 |
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Dr Richard Charlton Professor Michela Guglieri Emerita Professor Katherine Bushby Professor Volker Straub Dr Rita Barresi et al. | The importance of dosage analysis in dysferlinopathy | 2015 |
|
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 development | 2015 |
|
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 development | 2015 |
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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 Mutations | 2015 |
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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 variants | 2015 |
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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 dystrophies | 2014 |
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Professor Michela Guglieri Dr Anna Sarkozy Dr Rita Barresi Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al. | Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations | 2014 |
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Professor Giorgio Tasca Professor Michela Guglieri Dr Rita Barresi Emerita Professor Katherine Bushby Professor Volker Straub et al. | Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping | 2014 |
|
Dr Umar Burki Dr Alison Blain Dr Steven Laval Professor Volker Straub
| Development of an ultrasensitive ELISA method for the determination of phosphorodiamidate morpholino oligonucleotide (PMO) levels in biological samples | 2014 |
|
Dr Rita Barresi Dr Steven Laval Professor Volker Straub
| Dystrophin quantification Biological and translational research implications | 2014 |
|
Dr Amina Chaouch Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller
| Fibronectin is a serum biomarker for Duchenne muscular dystrophy | 2014 |
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Dr Henriette van Ruiten Professor Volker Straub Emerita Professor Katherine Bushby Professor Michela Guglieri
| Improving recognition of Duchenne muscular dystrophy: a retrospective case note review | 2014 |
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Professor Michela Guglieri Dr Henriette van Ruiten Professor Volker Straub Emerita Professor Katherine Bushby
| Improving the diagnosis of Duchenne muscular dystrophy | 2014 |
|
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 Reconstruction | 2014 |
|
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 reconstruction | 2014 |
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Liz Greally Dr Alison Blain Syeda Ahmed Dr Steven Laval Professor Andrew Blamire et al. | Manganese enhanced muscle MRI as a sensitive outcome measure of dystrophin restoration in the mdx mouse | 2014 |
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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 Europe | 2014 |
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Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al. | Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy | 2014 |
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Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al. | Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy | 2014 |
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Dr Amina Chaouch Daniel Cox Dr Steven Laval Dr Helen Griffin Dr Teresinha Evangelista et al. | Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission | 2014 |
|
Professor Volker Straub Dr Rita Barresi Dr Clare Morris Emerita Professor Katherine Bushby
| Preserved expression of truncated telethonin in a patient with LGMD2G | 2014 |
|
Dr Anna Sarkozy David Rawlings Professor Michela Guglieri Dr Kate Owen Professor Volker Straub et al. | Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience | 2014 |
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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 dystrophy | 2014 |
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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 Study | 2014 |
|
Dr Debbie Hicks Professor Volker Straub
| Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice | 2014 |
|
Dr Ralf Bauer Professor Volker Straub
| S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice | 2014 |
|
Professor Volker Straub Dr Michelle Eagle Professor Michela Guglieri
| Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study | 2014 |
|
Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby
| The burden of Duchenne muscular dystrophy: An international, cross-sectional study | 2014 |
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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 diseases | 2014 |
|
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 failure | 2014 |
|
Professor Rita Horvath Professor Volker Straub
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 | 2014 |
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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 Britain | 2014 |
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Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al. | ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation | 2013 |
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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 failure | 2013 |
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Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Professor Volker Straub et al. | Beta-Blockers, Left and Right Ventricular Function, and In-Vivo Calcium Influx in Muscular Dystrophy Cardiomyopathy | 2013 |
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Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Professor Michela Guglieri et al. | Clinical and molecular analysis of a large cohort of patients with anoctaminopathy | 2013 |
|
Dr Debbie Hicks Professor Volker Straub
| Collagen type XII: A new congenital matrix and muscle disease | 2013 |
|
Dr Debbie Hicks Dr Steven Laval Elena Martoni Dr Asif Shah Professor Hanns Lochmuller et al. | Collagen XII as a new disease gene for Bethlem-like myopathy | 2013 |
|
Dr Mattia Calissano Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby
| Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy | 2013 |
|
Professor Volker Straub Dr Liesbeth De Waele Dr Rita Barresi
| Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE | 2013 |
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Dr Amina Chaouch Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller
| Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome | 2013 |
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Dr Pauline McCormack Emeritus 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 translational | 2013 |
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Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Andrew Blamire et al. | Heterogeneous abnormalities of in-vivo left ventricular calcium influx and function in mouse models of muscular dystrophy cardiomyopathy | 2013 |
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Dr Debbie Hicks Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al. | Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family | 2013 |
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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 months | 2013 |
|
Professor Volker Straub Dr Debbie Hicks
| Natural history of pulmonary function in collagen VI-related myopathies | 2013 |
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Professor Volker Straub Dr Liesbeth De Waele Dr Rita Barresi
| Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF /Cavin, Integrin α 7, and Integrin α 9 | 2013 |
|
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 test | 2013 |
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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 myopathies | 2013 |
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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 Study | 2013 |
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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 2I | 2013 |
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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 diseases | 2013 |
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Dr Richard Charlton Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby Dr Rita Barresi et al. | A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance | 2012 |
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Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Dr Guy MacGowan et al. | Animal Models of Duchenne Muscular Dystrophy, with Special Reference to the mdx Mouse | 2012 |
|
alasdair Wood Pia Cumine Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish | 2012 |
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Dr Alison Blain Liz Greally Dr Guy MacGowan Dr Steven Laval Professor Andrew Blamire et al. | Beta-blocker/ACE-inhibitor combination treatment in mdx mice | 2012 |
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Professor Giorgio Tasca Professor Michela Guglieri Dr Rita Barresi Emerita Professor Katherine Bushby Professor Volker Straub et al. | Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy | 2012 |
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Dr Tracey Willis Dr Kieren Hollingsworth Dr Guy MacGowan Professor Andrew Blamire Professor Volker Straub et al. | Cardiac MRI in LGMD2I patients | 2012 |
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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 |
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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 | 2012 |
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Julia Tonge Professor Volker Straub Professor Hanns Lochmuller Emeritus Professor Doug Turnbull Professor Patrick Chinnery et al. | Clinical research activity in Newcastle MRC centre | 2012 |
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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 mutations | 2012 |
|
Dr Umar Burki Dr Alison Blain Dr Guillaume Launay Dr Ross Maxwell Dr Michael Carroll et al. | Development of in vivo imaging techniques to determine the biodistribution of antisense oligonucleotides in dystrophin deficient muscular dystrophy | 2012 |
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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 failure | 2012 |
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Dr Debbie Hicks Elena Martoni Professor Volker Straub Professor Hanns Lochmuller Dr Steven Laval et al. | Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing | 2012 |
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Dr Alasdair Wood Dr Juliane Mueller Dr Steven Laval Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al. | Investigating basement membranes in FKRP and fukutin deficient zebrafish | 2012 |
|
Liz Greally Dr Alison Blain Professor Andrew Blamire Dr Guy MacGowan Dr Steven Laval et al. | Manganese enhanced MRI as a useful in vivo outcome measure in assessing skeletal muscle calcium uptake in mouse models of muscular dystrophy | 2012 |
|
Liz Greally Dr Alison Blain Professor Andrew Blamire Dr Guy MacGowan Dr Steven Laval et al. | Manganese enhanced MRI as an outcome measure in assessing skeletal muscle calcium uptake in muscular dystrophy mouse models | 2012 |
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Dr Mojgan Reza Daniel Cox Dr Steven Laval Dr Amina Chaouch Dr Rita Barresi et al. | MRC NMD Centre Biobank: An overview | 2012 |
|
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 2L | 2012 |
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Professor Volker Straub
| Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss | 2012 |
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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 2L | 2012 |
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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 gene | 2012 |
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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 failure | 2012 |
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Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al. | A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy | 2011 |
|
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al. | A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy | 2011 |
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Dr Alasdair Wood Dr Juliane Mueller Catherine Jepson Dr Steven Laval Professor Hanns Lochmuller et al. | Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency | 2011 |
|
Dr Alison Blain Liz Greally Dr Steven Laval Professor Volker Straub Dr Guy MacGowan et al. | An MRI study of the effects of metoprolol on in vivo cardiac calcium homeostasis | 2011 |
|
Dr Tracey Willis Dr Kieren Hollingsworth Dr Michelle Eagle Dr Anna Mayhew Emerita Professor Katherine Bushby et al. | Assessing muscle pathology by MRI in LGMD2I | 2011 |
|
Professor Volker Straub Dr Amina Chaouch Professor Hanns Lochmuller
| BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 project | 2011 |
|
Dr Alison Blain Professor Volker Straub
| Delta-sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches | 2011 |
|
Professor Giorgio Tasca Professor Michela Guglieri Emerita Professor Katherine Bushby Professor Volker Straub
| Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. | 2011 |
|
Professor 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 2I | 2011 |
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Dr Alasdair Wood Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Generating stable FKRP mutant zebrafish lines with zinc finger nucleases | 2011 |
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Dr Juliane Mueller Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller et al. | Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect | 2011 |
|
Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Andrew Blamire et al. | In vivo myocardial calcium influx is increased in the delta sarcoglycan deficient mouse model of muscular dystrophy cardiomyopathy. Role of the L-type calcium channel | 2011 |
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Dr Louise Jorgensen Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire et al. | Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle | 2011 |
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Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Professor Hanns Lochmuller et al. | Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse | 2011 |
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Dr Rita Barresi Professor Giorgio Tasca Professor Volker Straub
| Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies | 2011 |
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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 dystrophy | 2011 |
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Professor Michela Guglieri Dr Kieren Hollingsworth Ewan Mercer Professor Volker Straub Emerita Professor Katherine Bushby et al. | Muscle histology vs MRI in Duchenne muscular dystrophy | 2011 |
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Dr Anna Sarkozy Dr Debbie Hicks Professor Hanns Lochmuller Emerita Professor Katherine Bushby Professor Volker Straub et al. | Muscle MRI findings in LGMD2L | 2011 |
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Dr Hacer Durmus Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients | 2011 |
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Dr Anna Sarkozy Dr Michelle Eagle Dr Richard Charlton Dr Rita Barresi Professor Hanns Lochmuller et al. | Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene | 2011 |
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Dr Tracey Willis Dr Kieren Hollingsworth Dr Michelle Eagle Dr Anna Mayhew Emerita Professor Katherine Bushby et al. | Quantitative MRI in LGMD2I; a longitudinal study | 2011 |
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Professor Vishna Devi V Nadarajah Dr Amina Chaouch Dr Penelope Garrood Professor Volker Straub Professor Hanns Lochmuller et al. | Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD) | 2011 |
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Professor Vishna Devi V Nadarajah Dr Amina Chaouch Dr Penelope Garrood Professor Volker Straub Professor Hanns Lochmuller et al. | Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression | 2011 |
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Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al. | Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency | 2010 |
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Dr Tracey Willis Dr Kieren Hollingsworth Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Assessing muscle pathology by MRI in LGMD2I | 2010 |
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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-antagonism | 2010 |
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Dr Alison Blain Liz Greally Dr Louise Jorgensen Dr Steven Laval Emerita Professor Katherine Bushby et al. | Blocking calcium influx with streptomycin worsens myocardial pathology in the mdx mouse model of muscular dystrophy | 2010 |
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Dr Juliane Mueller Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub et al. | Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes | 2010 |
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Dr Lars Klinge Dr Richard Charlton Dr Steven Laval Dr Mark Hornsey Professor Volker Straub et al. | Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle | 2010 |
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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 Mutations | 2010 |
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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 MRI | 2010 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations | 2010 |
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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 mutation | 2010 |
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Dr Ralf Bauer Dr Alison Blain Liz Greally Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | Intolerance to beta-blockade in a mouse model of delta-sarcoglycan-deficient muscular dystrophy cardiomyopathy | 2010 |
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Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al. | Modelling the role of dystroglycan glycosylation in angiogenesis using zebrafish | 2010 |
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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 technique | 2010 |
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Dr Anna Sarkozy Dr Debbie Hicks Professor Hanns Lochmuller Emerita Professor Katherine Bushby Professor Volker Straub et al. | Muscle MRI findings in anoctaminopathy | 2010 |
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Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Dr Rita Barresi et al. | Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy | 2010 |
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Dr Lars Klinge Dr Michelle Eagle Dr John Hudson Dr Anna Sarkozy Dr Richard Charlton et al. | New aspects on patients affected by dysferlin deficient muscular dystrophy | 2010 |
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Emerita Professor Katherine Bushby Professor Volker Straub
| One gene, one or many diseases?: Simplifying dysferlinopathy | 2010 |
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Professor Volker Straub Emerita Professor Katherine Bushby Professor Michela Guglieri
| Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion | 2010 |
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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 myopathy | 2010 |
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Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby
| Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials | 2010 |
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Professor Volker Straub
| RYR1 mutations are a common cause of congenital myopathies with central nuclei | 2010 |
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Dr Anna Sarkozy Dr Rumaisa Bashir Dr Debbie Hicks Dr Rita Barresi Dr Steven Laval et al. | The first UK family with Ano5-associated myopathy | 2010 |
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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 registry | 2009 |
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Yen-Hui Chiu Dr Mark Hornsey Dr Lars Klinge Dr Louise Jorgensen Dr Steven Laval et al. | Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy | 2009 |
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Dr Steven Laval Dr Louise Jorgensen Dr Mark Hornsey Dr Lars Klinge Dr Richard Charlton et al. | Attenuated muscle regeneration is a key factor in dysferlinopathy | 2009 |
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Dr Alison Blain Dr Ralf Bauer Dr Guy MacGowan Liz Greally Dr Steven Laval et al. | Attenuation of adverse effects of prednisolone on delta-sarcoglycandeficient cardiomyopathy by mineralocorticoid-receptorant-agonism | 2009 |
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Dr Richard Charlton Dr Debbie Hicks Dr Mojgan Reza Professor Volker Straub Professor Hanns Lochmuller et al. | Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy | 2009 |
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Emerita Professor Katherine Bushby Dr Stephen Lynn Professor Volker Straub
| Collaborating to bring new therapies to the patient - The TREAT-NMD model | 2009 |
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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 cardiomyopathy | 2009 |
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Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al. | Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue | 2009 |
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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 |
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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 heterogeneity | 2009 |
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Professor Volker Straub Dr Juliane Mueller Professor Hanns Lochmuller
| Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations | 2009 |
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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 |
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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 |
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Dr Richard Charlton Professor Volker Straub Emerita Professor Katherine Bushby Dr Rita Barresi
| Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A | 2009 |
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Dr Rita Barresi Professor Volker Straub
| Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree | 2009 |
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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 |
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Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Stephen Lynn Professor Volker Straub
| Interventions for muscular dystrophy:molecular medicines entering the clinic | 2009 |
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Professor 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 study | 2009 |
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Dr Daniel Birchall Professor Volker Straub Professor Hanns Lochmuller Professor Patrick Chinnery
| Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation | 2009 |
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Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Hanns Lochmuller et al. | Magnetic resonance imaging of cardiac function in mouse models for muscular dystrophy associated cardiomyopathy | 2009 |
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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 Exercise | 2009 |
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Professor Timothy Cheetham Professor Simon Pearce David Rawlings Dr Michelle Eagle Professor Michela Guglieri et al. | Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy | 2009 |
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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 population | 2009 |
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Dr Ralf Bauer Professor Volker Straub
| Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors | 2009 |
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Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al. | Response to letter from Bernardi | 2009 |
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Dr Mark Hornsey Yen-Hui Chiu Dr Louise Jorgensen Dr Lars Klinge Dr Steven Laval et al. | The evaluation of novel therapeutic strategies for the treatment of dysferlinopathy | 2009 |
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Dr Louise Jorgensen Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al. | The stretch-activated calcium channel candidate proteins TRPC1 and 3 present a distinctly different expression pattern in mdx mice | 2009 |
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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, UK | 2008 |
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Professor Volker Straub
| 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands | 2008 |
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Emerita Professor Katherine Bushby Dr Michelle Eagle Professor Volker Straub
| A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy | 2008 |
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Dr Debbie Hicks Dr Anne Lampe Dr Rita Barresi Dr Richard Charlton Professor Hanns Lochmuller et al. | A refined diagnostic algorithm for Bethlem myopathy | 2008 |
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Professor Volker Straub Professor Hanns Lochmuller
| An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1 | 2008 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | 2008 |
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Dr Richard Charlton Dr Rita Barresi Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub et al. | Caveolinopathy - New mutations and additional symptoms | 2008 |
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Professor 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 type | 2008 |
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Professor 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 1 | 2008 |
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Professor 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 1 | 2008 |
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Dr Rita Barresi Dr Richard Charlton Professor Volker Straub
| D.P.3.04: Inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD): Extending the clinical features in a large pedigree | 2008 |
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Dr Rita Barresi Dr Richard Charlton Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub et al. | D.P.3.09: Caveolinopathy - New mutations and additional symptoms | 2008 |
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Dr Richard Charlton Dr Rita Barresi Professor Volker Straub
| D.P.3.10: Partial caveolin 3 deficiency in acquired rippling muscle disease | 2008 |
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Professor 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 dystrophy | 2008 |
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Professor 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 1 | 2008 |
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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 |
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Professor Volker Straub
| Differential Diagnosis and Potential Misdiagnoses of Pompe Disease | 2008 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Dysferlin-deficient muscular dystrophy features amyloidosis | 2008 |
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Dr Anne Lampe Dr Debbie Hicks Dr Steven Laval Dr Richard Charlton Professor Volker Straub et al. | Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance | 2008 |
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Dr Lars Klinge Dr Steven Laval Dr Rita Barresi Professor Hanns Lochmuller Professor Volker Straub et al. | G.P.10.05:Preclinical drug trials in vestigating potential treatments for dysferlin deficiency | 2008 |
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Dr Lars Klinge Dr Steven Laval Dr Mark Hornsey Yen-Hui Chiu Professor Volker Straub et al. | G.P.10.06: Abnormal T-tubule morphology in dysferlin deficient muscle | 2008 |
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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 mouse | 2008 |
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Professor 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 |
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Dr Lars Klinge Dr Richard Charlton Dr Juliane Mueller Dr Louise VB Anderson Professor Volker Straub et al. | Late onset in dysferlinopathy widens the clinical spectrum | 2008 |
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Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller
| Limb-girdle muscular dystrophies | 2008 |
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Dr Penelope Garrood Dr Kieren Hollingsworth Dr Benjamin Aribisala Emerita Professor Katherine Bushby Professor Volker Straub et al. | MRI in Duchenne muscular dystrophy: Tracking progression | 2008 |
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Dr Penelope Garrood Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub
| Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy | 2008 |
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Dr Paul Thornhill Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller
| Neuromuscular junction formation in Dok-7 deficient zebrafish embryos | 2008 |
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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 gene | 2008 |
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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 |
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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 cardiomyopathy | 2008 |
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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 mouse | 2008 |
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Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al. | Testing therapies in neuromuscular disease: Oral presentations | 2008 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies | 2008 |
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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 |
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Dr Steven Laval Dr Louise VB Anderson Professor Volker Straub Emerita Professor Katherine Bushby
| AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration | 2007 |
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Dr Richard Charlton Dr Rita Barresi Dr Louise VB Anderson Dr Michelle Eagle Dr Mauro Santibanez Koref et al. | Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A | 2007 |
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Professor Volker Straub
| Dynamic control of a central pattern generator circuit: a computational model of the snail feeding network | 2007 |
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Dr Lars Klinge Professor Robin Harris Dr Richard Charlton Professor Volker Straub Dr Rita Barresi et al. | Dysferlin in muscle regeneration | 2007 |
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Dr Lars Klinge Dr Steven Laval Sharon Foster Faye Haldane Professor Volker Straub et al. | From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis | 2007 |
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Dr Michelle Eagle Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby
| Long term steroid use in non-ambulatory patients with Duchenne muscular dystrophy | 2007 |
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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 survival | 2007 |
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Professor Hanns Lochmuller Professor Volker Straub
| MD-NET - Muscular dystrophy network | 2007 |
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Dr Lars Klinge Dr Steven Laval Professor Volker Straub Dr Rita Barresi Emerita Professor Katherine Bushby et al. | Membrane damage induces dysferlin translocation in early myogenesis | 2007 |
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Professor Volker Straub
| Modulation of serotonergic neurotransmission by nitric oxide | 2007 |
|
Hongwei Zhou Emerita Professor Katherine Bushby Professor Volker Straub Rachel Appleton
| Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies | 2007 |
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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 interest | 2007 |
|
Professor Volker Straub Dr Rita Barresi Emerita Professor Katherine Bushby
| Muscle biopsy immunoanalysis and genetic outcome | 2007 |
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Dr Penelope Garrood Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub
| Myoglobinuria in steroid-treated Duchenne muscular dystrophy | 2007 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | 2007 |
|
Professor Volker Straub Emerita Professor Katherine Bushby
| Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies | 2007 |
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Dr Michelle Eagle Professor 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 strategies | 2007 |
|
Emerita Professor Katherine Bushby Dr Fiona Norwood Professor Volker Straub
| The limb-girdle muscular dystrophies--diagnostic strategies | 2007 |
|
Professor Volker Straub
| Associative memory stored by functional novel pathway rather than modifications of preexisting neuronal pathways | 2006 |
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Professor Volker Straub Emerita Professor Katherine Bushby
| Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene | 2006 |
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Dr Lars Klinge Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby
| Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein | 2006 |
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Dr Anne Lampe Dr Debbie Hicks Dr John Hudson Dr Steven Laval Dr Richard Charlton et al. | Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype | 2006 |
|
Professor Volker Straub
| Effects of age on feeding behavior and chemosensory processing in the pond snail, Lymnaea stagnalis | 2006 |
|
Professor Volker Straub
| Inflammation in dystrophies | 2006 |
|
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 mutations | 2006 |
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Dr Anna Sarkozy Dr Richard Charlton Dr Michelle Eagle Professor Patrick Chinnery Professor Volker Straub et al. | Phenotypic variability associated with desmin gene mutations | 2006 |
|
Professor Volker Straub Emerita Professor Katherine Bushby
| RYR1 genotype-phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations | 2006 |
|
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 dystrophy | 2006 |
|
Professor Volker Straub Emerita Professor Katherine Bushby
| The Childhood Limb-Girdle Muscular Dystrophies | 2006 |
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Emeritus Professor Clarke Slater Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Dr Louise VB Anderson et al. | Altered protein localisation during muscle regeneration in humans and rats | 2005 |
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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 phenotypes | 2005 |
|
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 study | 2005 |
|
Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub
| Limb girdle muscular dystrophies - Dominant forms; Poster presentations | 2005 |
|
Professor Volker Straub
| Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene | 2005 |
|
Emerita Professor Katherine Bushby Professor Volker Straub
| Nonmolecular treatment for muscular dystrophies | 2005 |
|
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 England | 2005 |
|
Professor Volker Straub
| Results of the ENMC workshop on medical management in glycogen storage disease type II | 2005 |
|
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 trial | 2005 |
|
Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Dr Heiko Peters et al. | The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice | 2005 |
|
Dr Michelle Eagle Professor Volker Straub Emerita Professor Katherine Bushby
| The impact of corticosteroids on forced vital capacity in Duchenne muscular dystrophy | 2005 |
|
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 populations | 2005 |
|
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 formation | 2005 |
|
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 Netherlands | 2004 |
|
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 contractions | 2004 |
|
Professor Volker Straub
| Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI | 2004 |
|
Dr John Bourke Dr Michelle Eagle Professor Volker Straub Emerita Professor Katherine Bushby
| Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I | 2004 |
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Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Professor Hanns Lochmuller et al. | Cell culture, biochemical and microarray analyses of dysferlin | 2004 |
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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 laxity | 2004 |
|
Dr Michelle Eagle Professor Volker Straub Emerita Professor Katherine Bushby
| Experience of applying the UK consensus on the use of corticosteroids in DMD | 2004 |
|
Dr Steven Laval Ilka Wappler Dr Lynsey Cree Faye Haldane Dr Heiko Peters et al. | Gene expression profiling in dysferlin-deficient marine muscle: differential gene expression in proximal and distal muscle groups | 2004 |
|
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 seizures | 2004 |
|
Professor Volker Straub
| Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark | 2004 |
|
Professor Volker Straub
| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome | 2004 |
|
Professor Volker Straub
| Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I | 2004 |
|
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 once | 2004 |
|
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 populations | 2003 |
|
Professor Volker Straub
| Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy | 2003 |
|
Professor Volker Straub
| Phenotypic spectrum associated with mutations in the fukutin-related protein gene | 2003 |
|
Professor Volker Straub
| Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease | 2003 |
|
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 Netherlands | 2002 |
|
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 gene | 2002 |
|
Professor Volker Straub
| Airway nitric oxide in Duchenne muscular dystrophy | 2002 |
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Professor Volker Straub
| Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD | 2002 |
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Professor Volker Straub
| Deficiency of alpha-dystroglycan in muscle-eye-brain disease | 2002 |
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Professor Volker Straub
| Endogenous and network properties of Lymnaea feeding central pattern generator interneurons | 2002 |
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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 myopathies | 2002 |
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Dr Rita Barresi Professor Volker Straub
| Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies | 2002 |
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Professor Volker Straub
| Suppression of nitric oxide (NO)-dependent behavior by double-stranded RNA-mediated silencing of a neuronal NO synthase gene | 2002 |
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Professor Volker Straub
| Extrinsic modulation and motor pattern generation in a feeding network: a cellular study | 2001 |
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Professor Volker Straub
| Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | 2001 |
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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 MDC1C | 2001 |
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Professor Volker Straub
| Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene | 2001 |
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Professor Volker Straub
| Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy | 2000 |
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Professor Volker Straub
| Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy | 2000 |
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Professor Volker Straub
| Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice | 2000 |
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Professor Volker Straub Dr Rita Barresi
| Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy | 1999 |
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Professor Volker Straub
| epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex | 1999 |
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Professor Volker Straub
| Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex | 1999 |
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