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Browsing publications by Emerita Professor Katherine Bushby.

Newcastle AuthorsTitleYearFull text
Dr ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Lizzie Harris
et al.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study2022
Meredith James
Dr Anna Mayhew
Emerita Professor Katherine Bushby
Professor Volker Straub
Comparison of strength testing modalities in dysferlinopathy2022
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Chris Speed
Jennifer Wilkinson
et al.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial2022
Dr Fiona Smith
Dr Ian Wilson
Roberto Fernandez-Torron
Meredith James
Dr Ursula Moore
et al.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy2022
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Michela Guglieri
Roberto Fernandez-Torron
et al.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease2021
Dr John Bourke
Gillian Watson
Andrew Bryant
Dr Thomas Chadwick
Ruth Wood
et al.
Preventing Cardiomyopathy in DMD2021
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Professor Andrew Blamire
et al.
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy2020
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a 1 year cohort study2019
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Professor Volker Straub
Fractures and Linear Growth in a Nationwide Cohort of Boys with Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results from the UK NorthStar Database2019
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy2018
Professor Jordi Diaz Manera
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
et al.
Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials2018
Dr John Bourke
Gillian Watson
Dr Michela Guglieri
Chris Speed
Professor Elaine McColl
et al.
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study2018
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
et al.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study2018
Fumi Takeuchi
Sunil Rodger
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.
A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr Michela Guglieri
Dr Alex Murphy
Emerita Professor Katherine Bushby
Dr John Bourke
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy2017
Dr Oksana Pogoryelova
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Emerita Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period2017
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Rachel Thompson
Victoria Hedley
Improved diagnosis and care for rare diseases through implementation of precision public health framework2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
Becca Leary
Dr Anne Oyewole
Emerita Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
Translational Research in Europe for theAssessment and Treatment for NeuromuscularDisorders (TREAT-NMD)2017
Dr Rita Barresi
Emerita Professor Katherine Bushby
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies2016
Fumi Takeuchi
Sunil Rodger
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.
A comparative study of care and support for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2016
Dr Ana Topf
Emerita Professor Katherine Bushby
Professor Volker Straub
Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement2016
Dr 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
Victoria Hedley
Emerita Professor Katherine Bushby
Challenges raised by cross-border testing of rare diseases in the European Union2016
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
Dr Lizzie Harris
et al.
Clinical outcome study for dysferlinopathy: One-year follow-up2016
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015)2016
Elena Martoni
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy2016
Emerita Professor Katherine Bushby
Dr Rita Barresi
Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene2016
Dr Tracey Willis
Dr Claire Wood
Dr Tuomo Polvikoski
Dr Rita Barresi
Professor Hanns Lochmuller
et al.
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion2016
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2016
David Rawlings
Dr Claire Wood
Dr Timothy Cheetham
Dr Cecilia Jimenez Moreno
Dr Anna Mayhew
et al.
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Dr Anna Mayhew
Emerita Professor Katherine Bushby
Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort2016
Dr Claire Wood
Professor Volker Straub
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr Timothy Cheetham
et al.
Short stature and pubertal delay in Duchenne muscular dystrophy2016
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Monica Ensini
Professor Annemieke Aartsma-Rus
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy2016
Dr Lizzie Harris
Dr Catherine Bladen
Dr Anna Mayhew
Meredith James
Karen Bettinson
et al.
The Clinical Outcome Study for dysferlinopathy: An international multicenter study2016
Dr Teresinha Evangelista
Victoria Hedley
Dr Jose Atalaia
Dr Stephen Lynn
Emerita Professor Katherine Bushby
et al.
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks2016
Dr Rita Barresi
Emerita Professor Katherine Bushby
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility2016
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Michela Guglieri
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials2016
Dr Henriette van Ruiten
Dr Chiara Marini Bettolo
Dr Timothy Cheetham
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England2016
Dr Lizzie Harris
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Dr Rita Barresi
et al.
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome2015
Sunil Rodger
Dr Catherine Bladen
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Adult care for Duchenne muscular dystrophy in the UK2015
Rebecca Crow
Dr Michela Guglieri
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Anticipating and overcoming obstacles in setting up NIH funded academic led, international clinical trials in rare disease - learning from for DMD2015
Catherine Turner
Emerita Professor Katherine Bushby
Dr Louise Johnston
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease2015
Dr Anna Sarkozy
Dr Marta Bertoli
Dr John Hudson
Emerita Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period2015
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G2015
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT)2015
Dr Anna Sarkozy
Dr Rita Barresi
Dr Marta Bertoli
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies2015
Emerita Professor Katherine Bushby
First drug registry in Duchenne muscular dystrophy (DMD) to assess Translarna (Ataluren) use, safety, and effectiveness in routine clinical practice2015
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study2015
Dr Cecilia Jimenez Moreno
Dr Sira Moreno
Dr Michelle Eagle
Dr Anna Mayhew
Meredith James
et al.
Impact of three decades of improvement in standards of care for Duchenne muscular dystrophy2015
Dr Stephen Lynn
Professor Annemieke Aartsma-Rus
Emerita Professor Katherine Bushby
Dr Anna Mayhew
Professor Volker Straub
et al.
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy2015
Dr Oksana Pogoryelova
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy2015
Dr Timothy Walls
Dr Anna Sarkozy
Dr Marta Bertoli
Dr Andrew Schaefer
Emerita Professor Katherine Bushby
et al.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies2015
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Anna Sarkozy
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease2015
Dr Henriette van Ruiten
Dr Michela Guglieri
Dr Michelle Eagle
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England2015
Dr Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Anna Mayhew
Meredith James
Dr Michelle Eagle
Dr Catherine Bladen
Karen Bettinson
et al.
Preparation of a disease specific functional measure suitable for trials in dysferlinopathy2015
Dr Michela Guglieri
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Emerita Professor Katherine Bushby
et al.
Recruitment in the FOR-DMD study - double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)2015
Dr Claire Wood
Dr Timothy Cheetham
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr Catherine Owen
et al.
Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy2015
Dr Alex Murphy
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr John Bourke
The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis2015
Dr Richard Charlton
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy2015
Emma Heslop
Professor Volker Straub
Dr Louise Johnston
Emerita Professor Katherine Bushby
The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development2015
Emma Heslop
Professor Volker Straub
Emerita Professor Katherine Bushby
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development2015
Dr Catherine Bladen
Professor Jordi Diaz Manera
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
et al.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations2015
Dr Amina Chaouch
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Professor Annemieke Aartsma-Rus
et al.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants2015
Dr Amina Chaouch
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies2014
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Ataluren treatment of patients with nonsense mutation dystrophinopathy2014
Dr Michela Guglieri
Dr Anna Sarkozy
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations2014
Dr Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping2014
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen Type VI Myopathies2014
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen type VI myopathies2014
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients2014
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review2014
Dr Michela Guglieri
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Improving the diagnosis of Duchenne muscular dystrophy2014
Dr Lizzie Harris
Karen Bettinson
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
et al.
International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patients2014
Dr Catherine Bladen
Rachel Thompson
Dr Karen Rafferty
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy2014
Dr Amina Chaouch
Daniel Cox
Dr Steven Laval
Dr Helen Griffin
Dr Teresinha Evangelista
et al.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission2014
Dr Michelle Eagle
Emerita Professor Katherine Bushby
One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development2014
Professor Volker Straub
Dr Rita Barresi
Dr Clare Morris
Emerita Professor Katherine Bushby
Preserved expression of truncated telethonin in a patient with LGMD2G2014
Dr Anna Sarkozy
David Rawlings
Dr Michela Guglieri
Dr Kate Owen
Professor Volker Straub
et al.
Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience2014
Dr Jana Haberlova
Dr Katarina Kranz
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy2014
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study2014
Rachel Thompson
Dr Louise Johnston
Dr Monica Ensini
Emma Heslop
Emerita Professor Katherine Bushby
et al.
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research2014
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
The burden of Duchenne muscular dystrophy: An international, cross-sectional study2014
Dr Louise Johnston
Rachel Thompson
Catherine Turner
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
The impact of integrated omics technologies for patients with rare diseases2014
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Dr Amina Chaouch
Dr Fiona Norwood
Professor Rita Horvath
Professor Patrick Chinnery
Dr Tuomo Polvikoski
et al.
Two recurrent mutations are associated with GNE myopathy in the North of Britain2014
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Lizzie Harris
et al.
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation2013
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Helen Griffin
Dr Hannah Elliott
et al.
A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure2013
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Michela Guglieri
et al.
Clinical and molecular analysis of a large cohort of patients with anoctaminopathy2013
Dr Michelle Eagle
Dr Anna Mayhew
Karen Bettinson
Meredith James
Dr Brigitta von Rekowski
et al.
Clinical outcome measures for dysferlinopathy: An exploration of reliability and suitability of novel functional rating scales2013
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Collagen type VI myopathies2013
Dr Debbie Hicks
Dr Steven Laval
Elena Martoni
Dr Asif Shah
Professor Hanns Lochmuller
et al.
Collagen XII as a new disease gene for Bethlem-like myopathy2013
Professor Elaine McColl
Emerita Professor Katherine Bushby
Corticosteroids in Duchenne muscular dystrophy: Major variations in practice2013
Dr Anna Sarkozy
Dr Rita Barresi
Dr Teresinha Evangelista
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis2013
Dr Anna Mayhew
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy2013
Dr Mattia Calissano
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy2013
Emerita Professor Helen McConachie
Professor Ann Le Couteur
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy2013
Dr Amina Chaouch
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome2013
Dr Pauline McCormack
Professor Simon Woods
Emma Heslop
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational2013
Dr Debbie Hicks
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family2013
Dr Kieren Hollingsworth
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months2013
Dr Mark Hornsey
Dr Steven Laval
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Muscular dystrophy in dysferlin-deficient mouse models2013
Dr Anna Mayhew
Dr Michelle Eagle
Meredith James
Emerita Professor Katherine Bushby
Performance of Upper Limb Scale for use in Duchenne muscular dystrophy - An iterative process to establish its suitability for clinical trials2013
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Gerald Pfeffer
Dr Anna Sarkozy
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies2013
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study2013
Dr Liesbeth De Waele
Dr Michelle Eagle
Dr Richard Charlton
Dr Langping He
Dr Emma Watson
et al.
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities2013
Dr Kieren Hollingsworth
Dr Tracey Willis
Dr Matt Bates
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I2013
Sunil Rodger
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases2013
Dr Richard Charlton
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance2012
Dr Liesbeth De Waele
Emerita Professor Katherine Bushby
Dr Rita Barresi
Autosomal recessive desminopathy with desmin-null mutations presenting in childhood2012
Dr Rita Barresi
Dr Liesbeth De Waele
Emerita Professor Katherine Bushby
Autosomal recessive desminopathy with desmin-null mutations presenting in childhood2012
alasdair Wood
Pia Cumine
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish2012
Dr Alison Blain
Liz Greally
Dr Guy MacGowan
Dr Steven Laval
Professor Andrew Blamire
et al.
Beta-blocker/ACE-inhibitor combination treatment in mdx mice2012
Dr Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy2012
Sunil Rodger
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy2012
Sunil Rodger
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
CARE-NMD: Improving care for Duchenne muscular dystrophy2012
Sunil Rodger
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Emerita Professor Katherine Bushby
et al.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Emerita Professor Katherine Bushby
et al.
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies2012
Julia Tonge
Professor Volker Straub
Professor Hanns Lochmuller
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
Clinical research activity in Newcastle MRC centre2012
Dr Anne Lampe
Emerita Professor Katherine Bushby
Dr Debbie Hicks
Collagen Type VI-related disorders2012
Dr Nuria Muelas Gomez
Professor Michael Hanna
Dr Amina Chaouch
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations2012
Sunil Rodger
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Current care practice in Duchenne Muscular Dystrophy in Europe - results of the CARE-NMD cross-sectional survey2012
Dr Amina Chaouch
Dr Anna Sarkozy
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
FSHD extended deletion analysis using the D4Z4 1kb probe - a case study2012
Sunil Rodger
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
How reference networks develop, implement, and monitor guidelines2012
Dr Debbie Hicks
Elena Martoni
Professor Volker Straub
Professor Hanns Lochmuller
Dr Steven Laval
et al.
Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing2012
Dr Alasdair Wood
Dr Juliane Mueller
Dr Steven Laval
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Investigating basement membranes in FKRP and fukutin deficient zebrafish2012
Dr Mojgan Reza
Daniel Cox
Dr Steven Laval
Dr Amina Chaouch
Dr Rita Barresi
et al.
MRC NMD Centre Biobank: An overview2012
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Muscle MRI findings in limb girdle muscular dystrophy type 2L2012
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Debbie Hicks
Dr Anna Sarkozy
et al.
NOVEL ANO5 GENE MUTATIONS, C.989DUPT AND C.2018A -> G CAUSING LIMB GIRDLE MUSCULAR DYSTROPHY 2L2012
Dr Anna Sarkozy
Dr Tuomo Polvikoski
Dr Michelle Eagle
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene2012
Dr Anna Mayhew
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Trial readiness: Clinical interpretability of change scores of the North Star Ambulatory Assessment in Duchenne muscular dystropy2012
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy2011
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy2011
Dr Alasdair Wood
Dr Juliane Mueller
Catherine Jepson
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency2011
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Assessing muscle pathology by MRI in LGMD2I2011
Dr Michela Guglieri
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD)2011
Ewan Mercer
Emerita Professor Katherine Bushby
Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathy2011
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.2011
Dr Anna Sarkozy
Emerita Professor Katherine Bushby
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease2011
Dr Michela Guglieri
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.2011
Dr Alasdair Wood
Catherine Jepson
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Generating stable FKRP mutant zebrafish lines with zinc finger nucleases2011
Dr Juliane Mueller
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect2011
Dr Rita Barresi
Emerita Professor Katherine Bushby
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations2011
Dr Louise Jorgensen
Dr Alison Blain
Liz Greally
Dr Steven Laval
Professor Andrew Blamire
et al.
Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle2011
Dr Alison Blain
Liz Greally
Dr Steven Laval
Professor Andrew Blamire
Professor Hanns Lochmuller
et al.
Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse2011
Dr Anna Mayhew
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Anna Sarkozy
et al.
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy2011
Dr Michela Guglieri
Dr Kieren Hollingsworth
Ewan Mercer
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Muscle histology vs MRI in Duchenne muscular dystrophy2011
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in LGMD2L2011
Emerita Professor Katherine Bushby
Neuromuscular diseases: Milestones in development of treatments2011
Dr Hacer Durmus
Dr Steven Laval
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients2011
Dr Anna Sarkozy
Dr Michelle Eagle
Dr Richard Charlton
Dr Rita Barresi
Professor Hanns Lochmuller
et al.
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene2011
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Emerita Professor Katherine Bushby
et al.
Quantitative MRI in LGMD2I; a longitudinal study2011
Mafalda Cacciottolo
Dr Steven Laval
Emerita Professor Katherine Bushby
Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins2011
Emerita Professor Katherine Bushby
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands2010
Emerita Professor Katherine Bushby
170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27-29 November 2009, Naarden, The Netherlands2010
Catherine Jepson
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Rita Barresi
et al.
Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency2010
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Assessing muscle pathology by MRI in LGMD2I2010
Dr Ralf Bauer
Dr Alison Blain
Liz Greally
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism2010
Dr Alison Blain
Liz Greally
Dr Louise Jorgensen
Dr Steven Laval
Emerita Professor Katherine Bushby
et al.
Blocking calcium influx with streptomycin worsens myocardial pathology in the mdx mouse model of muscular dystrophy2010
Emerita Professor Katherine Bushby
Dr Rita Barresi
Calpainopathy presenting as foot drop in a 41 year old2010
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies2010
Emerita Professor Katherine Bushby
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management2010
Emerita Professor Katherine Bushby
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care2010
Dr Juliane Mueller
Catherine Jepson
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes2010
Dr Lars Klinge
Dr Richard Charlton
Dr Steven Laval
Dr Mark Hornsey
Professor Volker Straub
et al.
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle2010
Dr Michela Guglieri
Professor Elaine McColl
Dr Michelle Eagle
Dr Karen Rafferty
Emerita Professor Katherine Bushby
et al.
FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)2010
Dr Michelle Eagle
Dr Anna Mayhew
Dr Tracey Willis
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Functional outcome measures in limb girdle muscular dystrophy 21: Correlations with MRI2010
Professor Volker Straub
Emerita Professor Katherine Bushby
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations2010
Dr Anna Sarkozy
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation2010
Dr Ralf Bauer
Dr Alison Blain
Liz Greally
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Intolerance to beta-blockade in a mouse model of delta-sarcoglycan-deficient muscular dystrophy cardiomyopathy2010
Catherine Jepson
Dr Steven Laval
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Rita Barresi
et al.
Modelling the role of dystroglycan glycosylation in angiogenesis using zebrafish2010
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Molecular treatments in Duchenne muscular dystrophy2010
Dr Tracey Willis
Dr Kieren Hollingsworth
Professor Andrew Blamire
Dr Michelle Eagle
Emerita Professor Katherine Bushby
et al.
MRI in LGMD21: a qualitative and quantitative analysis using the 3 point Dixon technique2010
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Muscle MRI findings in anoctaminopathy2010
Dr Richard Charlton
Dr Anna Sarkozy
Dr Debbie Hicks
Emerita Professor Katherine Bushby
Dr Rita Barresi
et al.
Muscle protein profile in Anoctaminopathies2010
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Nuria Muelas Gomez
Dr Gavin Hudson
Dr Rita Barresi
et al.
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy2010
Dr Lars Klinge
Dr Michelle Eagle
Dr John Hudson
Dr Anna Sarkozy
Dr Richard Charlton
et al.
New aspects on patients affected by dysferlin deficient muscular dystrophy2010
Emerita Professor Katherine Bushby
Professor Volker Straub
One gene, one or many diseases?: Simplifying dysferlinopathy2010
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion2010
Dr Anna Sarkozy
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Recurrent BAG3 gene mutation in a British family with two siblings with severe myofibrillar myopathy2010
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials2010
Emerita Professor Katherine Bushby
Emma Heslop
Dr Pauline McCormack
Professor Simon Woods
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 20092010
Dr Anna Sarkozy
Dr Rumaisa Bashir
Dr Debbie Hicks
Dr Rita Barresi
Dr Steven Laval
et al.
The first UK family with Ano5-associated myopathy2010
Emerita Professor Katherine Bushby
Dr Michelle Eagle
The Respiratory Management of Patients With Duchenne Muscular Dystrophy: A DMD Care Considerations Working Group Specialty Article2010
Dr Tracey Willis
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
An international registry for FKRP (fukutin-related protein) patients-the first international registry2009
Yen-Hui Chiu
Dr Mark Hornsey
Dr Lars Klinge
Dr Louise Jorgensen
Dr Steven Laval
et al.
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy2009
Dr Steven Laval
Dr Louise Jorgensen
Dr Mark Hornsey
Dr Lars Klinge
Dr Richard Charlton
et al.
Attenuated muscle regeneration is a key factor in dysferlinopathy2009
Dr Alison Blain
Dr Ralf Bauer
Dr Guy MacGowan
Liz Greally
Dr Steven Laval
et al.
Attenuation of adverse effects of prednisolone on delta-sarcoglycandeficient cardiomyopathy by mineralocorticoid-receptorant-agonism2009
Dr Richard Charlton
Dr Debbie Hicks
Dr Mojgan Reza
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Chain-specific antibody testing of collagen VI: An additional pre-screening strategy for the diagnosis of Bethlem myopathy2009
Emerita Professor Katherine Bushby
Dr Stephen Lynn
Professor Volker Straub
Collaborating to bring new therapies to the patient - The TREAT-NMD model2009
Professor Volker Straub
Dr Alison Blain
Emerita Professor Katherine Bushby
Dr Guy MacGowan
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue2009
Emerita Professor Katherine Bushby
Diagnosis and management of the limb girdle muscular dystrophies2009
Dr Ralf Bauer
Dr John Bourke
Daniel Routledge
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?2009
Dr Debbie Hicks
Dr Anna Sarkozy
Dr Anne Lampe
Dr Fiona Norwood
Professor Volker Straub
et al.
EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity2009
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
Emerita Professor Katherine Bushby
G.P.13.05: The diagnosis and management of Duchenne muscular dystrophy: Internationally generated care recommendations2009
Dr Richard Charlton
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Rita Barresi
Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A2009
Professor Patrick Chinnery
Professor Volker Straub
Emerita Professor Katherine Bushby
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.2009
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Stephen Lynn
Professor Volker Straub
Interventions for muscular dystrophy:molecular medicines entering the clinic2009
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study2009
Liz Greally
Dr Benjamin Davison
Dr Alison Blain
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Magnetic resonance imaging of cardiac function in mouse models for muscular dystrophy associated cardiomyopathy2009
Dr Penelope Garrood
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Benjamin Aribisala
Dr Daniel Birchall
et al.
MR Imaging in Duchenne Muscular Dystrophy: Quantification of T-1-Weighted Signal, Contrast Uptake, and the Effects of Exercise2009
Dr Timothy Cheetham
Professor Simon Pearce
David Rawlings
Dr Michelle Eagle
Dr Michela Guglieri
et al.
Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy2009
Dr Fiona Norwood
Professor Patrick Chinnery
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population2009
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Response to letter from Bernardi2009
Dr Mark Hornsey
Yen-Hui Chiu
Dr Louise Jorgensen
Dr Lars Klinge
Dr Steven Laval
et al.
The evaluation of novel therapeutic strategies for the treatment of dysferlinopathy2009
Dr Louise Jorgensen
Dr Steven Laval
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
The stretch-activated calcium channel candidate proteins TRPC1 and 3 present a distinctly different expression pattern in mdx mice2009
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Dr Eugen-Matthias Strehle
Professor Volker Straub
13th International WMS Congress, 29th September - 2nd October 2008, Newcastle Gateshead, UK2008
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands2008
Emerita Professor Katherine Bushby
Dr Michelle Eagle
Professor Volker Straub
A phase I/II trial of MYO-029 in adult subjects with muscular dystrophy2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Rita Barresi
Dr Richard Charlton
Professor Hanns Lochmuller
et al.
A refined diagnostic algorithm for Bethlem myopathy2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation2008
Emerita Professor Katherine Bushby
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle2008
Dr Richard Charlton
Dr Rita Barresi
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Caveolinopathy - New mutations and additional symptoms2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Clinical follow up in a large cohort of patients affected by Myotonic Dystrophy type2008
Emerita Professor Katherine Bushby
Dr Tom Shakespeare
Professor Simon Woods
Consent, Choice and Children in Genetic Research2008
Dr Ross Henderson
Dr Tom Shakespeare
Emerita Professor Katherine Bushby
Professor Simon Woods
Consent, choice and children in research: Exploring decision making by parents of children with Duchenne muscular dystrophy considering participation in genetic research projects2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.02: Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.03: Clinical follow up in a large cohort of patients affected by myotonic dystrophy type 12008
Dr Rita Barresi
Dr Richard Charlton
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
D.P.3.09: Caveolinopathy - New mutations and additional symptoms2008
Dr Michela Guglieri
Dr Michelle Eagle
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Delayed development and learning difficulties as a predominant symptom in female carriers of Duchenne and Becker muscular dystrophy2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Paul Thornhill
Dr David Bassett
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Dysferlin-deficient muscular dystrophy features amyloidosis2008
Dr Michelle Eagle
Professor Elaine McColl
Geoff Bell
Emerita Professor Katherine Bushby
Equipoise concerning corticosteroid use in boys with Duchenne muscular dystrophy: persistent wide variations in practice2008
Dr Anne Lampe
Dr Debbie Hicks
Dr Steven Laval
Dr Richard Charlton
Professor Volker Straub
et al.
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance2008
Dr Lars Klinge
Dr Steven Laval
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Volker Straub
et al.
G.P.10.05:Preclinical drug trials in vestigating potential treatments for dysferlin deficiency2008
Dr Lars Klinge
Dr Steven Laval
Dr Mark Hornsey
Yen-Hui Chiu
Professor Volker Straub
et al.
G.P.10.06: Abnormal T-tubule morphology in dysferlin deficient muscle2008
Dr Julie Murphy
Dr Richard Charlton
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Robert Taylor
et al.
G.P.10.09 Mitochondrial dysfunction in dysferlinopathy2008
Dr Richard Charlton
Emerita Professor Katherine Bushby
Dr Rita Barresi
G.P.14.01: Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A2008
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
G.P.14.12: Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) - Exclusion of all known LGMD loci with microsatellite analysis2008
Dr Michela Guglieri
Emerita Professor Katherine Bushby
How to go about diagnosing and managing the limb-girdle muscular dystrophies2008
Dr Ralf Bauer
Professor Volker Straub
Dr Alison Blain
Emerita Professor Katherine Bushby
Dr Guy MacGowan
et al.
In-vivo direct and indirect myocardial effects of captopril in the mdx mouse2008
Dr Michela Guglieri
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Is assessment of respiratory function a good outcome measure for SMA II and III?2008
Dr Lars Klinge
Dr Richard Charlton
Dr Juliane Mueller
Dr Louise VB Anderson
Professor Volker Straub
et al.
Late onset in dysferlinopathy widens the clinical spectrum2008
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Limb-girdle muscular dystrophies2008
Dr Penelope Garrood
Dr Kieren Hollingsworth
Dr Benjamin Aribisala
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
MRI in Duchenne muscular dystrophy: Tracking progression2008
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy2008
Dr Paul Thornhill
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Neuromuscular junction formation in Dok-7 deficient zebrafish embryos2008
Dr Anna Sarkozy
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Phenotypic characterization of two unrelated UK families with X-linked myopathy and an identical mutation in the FHL1 gene2008
Dr Lars Klinge
Dr Richard Charlton
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?2008
Dr Eugen-Matthias Strehle
Emerita Professor Katherine Bushby
Solution Structure of the Inner DysF Domain of Myoferlin and Implications for Limb Girdle Muscular Dystrophy Type 2B2008
Dr Ralf Bauer
Dr Guy MacGowan
Dr Alison Blain
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy2008
Dr Ralf Bauer
Dr Guy MacGowan
Dr Alison Blain
Emerita Professor Katherine Bushby
Professor Volker Straub
et al.
T.P.4.09: Left ventricular remodeling after steroid therapy in the mdx mouse2008
Dr Debbie Hicks
Dr Anne Lampe
Dr Steven Laval
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Testing therapies in neuromuscular disease: Oral presentations2008
Professor Bobby McFarland
Dr Helen Swalwell
Emeritus Professor Doug Turnbull
Emerita Professor Katherine Bushby
Professor Robert Taylor
et al.
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies2008
Professor Volker Straub
Emerita Professor Katherine Bushby
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity...2008
Emerita Professor Katherine Bushby
145th ENMC International Workshop: Planning for an International Trial of Steroid Dosage Regimes in DMD (FOR DMD) 22-24th October 2006, Naarden, The Netherlands2007
Dr Helen Swalwell
Professor Bobby McFarland
Dr Joanna Elson
Dr Langping He
Emerita Professor Katherine Bushby
et al.
A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations2007
Dr Steven Laval
Dr Louise VB Anderson
Professor Volker Straub
Emerita Professor Katherine Bushby
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration2007
Dr Richard Charlton
Dr Rita Barresi
Dr Louise VB Anderson
Dr Michelle Eagle
Dr Mauro Santibanez Koref
et al.
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A2007
Dr Lars Klinge
Professor Robin Harris
Dr Richard Charlton
Professor Volker Straub
Dr Rita Barresi
et al.
Dysferlin in muscle regeneration2007
Dr Lars Klinge
Dr Richard Charlton
Dr Rita Barresi
Emerita Professor Katherine Bushby
Dysferlinopathy with very late onset and untypical clinical presentation2007
Dr Fiona Norwood
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies2007
Dr Lars Klinge
Dr Steven Laval
Sharon Foster
Faye Haldane
Professor Volker Straub
et al.
From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis2007
Emerita Professor Katherine Bushby
Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia: Clinical features of a large pedigree2007
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Long term steroid use in non-ambulatory patients with Duchenne muscular dystrophy2007
Dr Michelle Eagle
Dr John Bourke
Dr Robert Bullock
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Managing Duchenne muscular dystrophy - The additive effect of spinal surgery and home nocturnal ventilation in improving survival2007
Dr Lars Klinge
Dr Steven Laval
Professor Volker Straub
Dr Rita Barresi
Emerita Professor Katherine Bushby
et al.
Membrane damage induces dysferlin translocation in early myogenesis2007
Hongwei Zhou
Emerita Professor Katherine Bushby
Professor Volker Straub
Rachel Appleton
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies2007
Dr Iain McKinnon
Emerita Professor Katherine Bushby
Professor Patrick Chinnery
Dr Daniel Birchall
MRI for the demonstration of subclinical muscle involvement in muscular dystrophy2007
Dr Penelope Garrood
Dr Kieren Hollingsworth
Professor Peter Thelwall
Dr Daniel Birchall
Dr Michelle Eagle
et al.
MRI in Duchenne muscular dystrophy: Quantification of fat infiltration and gadolinium uptake using whole-muscle regions of interest2007
Professor Volker Straub
Dr Rita Barresi
Emerita Professor Katherine Bushby
Muscle biopsy immunoanalysis and genetic outcome2007
Dr Penelope Garrood
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Myoglobinuria in steroid-treated Duchenne muscular dystrophy2007
Professor Volker Straub
Emerita Professor Katherine Bushby
Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan2007
Emerita Professor Katherine Bushby
Report on the 149th ENMC International Workshop and 1st TREAT-NMD Workshop2007
Professor Volker Straub
Emerita Professor Katherine Bushby
Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies2007
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Steroids in Duchenne muscular dystrophy (DMD): Natural history and clinical evaluation using the North Star Ambulatory Assessment (NSAA)2007
Emerita Professor Katherine Bushby
The functional involvement of lamin A and LAPa in human ageing: the role for lamina protein redox modifications in senescence signaling2007
Emerita Professor Katherine Bushby
Dr Fiona Norwood
Professor Volker Straub
The limb-girdle muscular dystrophies-Diagnostic strategies2007
Emerita Professor Katherine Bushby
Dr Fiona Norwood
Professor Volker Straub
The limb-girdle muscular dystrophies--diagnostic strategies2007
Emerita Professor Katherine Bushby
[abstract] Congenital arthrogryposis and dilated cardiomyopathy associated with a R644C substitution in the Lamin A/C gene2006
Dr Anne Lampe
Emerita Professor Katherine Bushby
Dr Debbie Hicks
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations2006
Emerita Professor Katherine Bushby
A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium2006
Emerita Professor Katherine Bushby
A practical guide to diagnosis and management in the limb-girdle muscular dystrophies2006
Dr Steven Laval
Emerita Professor Katherine Bushby
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-32006
Professor Volker Straub
Emerita Professor Katherine Bushby
Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene2006
Emerita Professor Katherine Bushby
COL6A1 genomic deletions in bethlem myopathy and ullrich muscular dystrophy2006
Dr Inderbir Gill
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Dr Robert Bullock
Correction of neuromuscular scoliosis in patients with preexisting respiratory failure2006
Dr Lars Klinge
Dr Steven Laval
Professor Volker Straub
Emerita Professor Katherine Bushby
Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein2006
Dr Anne Lampe
Dr Debbie Hicks
Dr John Hudson
Dr Steven Laval
Dr Richard Charlton
et al.
Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype2006
Dr Steven Laval
Emerita Professor Katherine Bushby
Dysferlin interacts with AHNAK: secondary reduction of AHNAK in dysferlinopathy patients2006
Emerita Professor Katherine Bushby
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy2006
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice2006
Emerita Professor Katherine Bushby
Professor Volker Straub
Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations2006
Emerita Professor Katherine Bushby
Muscular dystrophy campaign funded workshop on management of scoliosis in Duchenne muscular dystrophy 24 January 2005, London, UK2006
Dr Anna Sarkozy
Dr Richard Charlton
Dr Michelle Eagle
Professor Patrick Chinnery
Professor Volker Straub
et al.
Phenotypic variability associated with desmin gene mutations2006
Professor Volker Straub
Emerita Professor Katherine Bushby
RYR1 genotype-phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations2006
Dr Richard Charlton
Dr Lars Klinge
Emerita Professor Katherine Bushby
Professor Volker Straub
Sarcoglycanopathy - Can immunoanalyses accurately predict the genotype?2006
Dr Lars Klinge
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Severe phenotype in infantile facioscapulohumeral muscular dystrophy2006
Emerita Professor Katherine Bushby
Professor Ann Le Couteur
Emerita Professor Helen McConachie
Survey of behaviour problems in children with neuromuscular diseases2006
Professor Volker Straub
Emerita Professor Katherine Bushby
The Childhood Limb-Girdle Muscular Dystrophies2006
Emerita Professor Katherine Bushby
128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands2005
Emerita Professor Katherine Bushby
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands2005
Emerita Professor Katherine Bushby
A novel locus for congenital muscular dystrophy maps to chromosome 4p16.32005
Emeritus Professor Clarke Slater
Dr Steven Laval
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Louise VB Anderson
et al.
Altered protein localisation during muscle regeneration in humans and rats2005
Dr Anne Lampe
Dr Steven Laval
Katarzyna Swoboda
Emerita Professor Katherine Bushby
Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy2005
Dr Anne Lampe
Dr Michelle Eagle
Dr Mark Buddles
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes2005
Dr Michelle Eagle
David Rawlings
Professor Volker Straub
Emerita Professor Katherine Bushby
Bone density in patients with Duchenne muscular dystrophy (DMD)2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Collagen VI related muscle disorders2005
Emerita Professor Katherine Bushby
Continued need for caution in the diagnosis of Duchenne muscular dystrophy2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy2005
Emerita Professor Katherine Bushby
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy2005
Dr Steven Laval
Emerita Professor Katherine Bushby
Functional analysis of the dysferlin protein complex by phage display derived heavy chain antibody fragments2005
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Limb girdle muscular dystrophies - Dominant forms; Poster presentations2005
Emerita Professor Katherine Bushby
Limb-girdle muscular dystrophy - Lessons from the clinic2005
Emerita Professor Katherine Bushby
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.32005
Emerita Professor Katherine Bushby
Louise Anderson (1953-2005) - Obituary2005
Emerita Professor Katherine Bushby
Dr Daniel Birchall
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures2005
Emerita Professor Katherine Bushby
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy2005
Emerita Professor Katherine Bushby
Professor Volker Straub
Nonmolecular treatment for muscular dystrophies2005
Dr Fiona Norwood
Professor Patrick Chinnery
Emerita Professor Katherine Bushby
Professor Volker Straub
On the classification, natural history and treatment of the myopathies' 50 years on: population study of muscle disease in the Northern region of England2005
Dr Anne Lampe
Emerita Professor Katherine Bushby
Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes2005
Faye Haldane
Dr Steven Laval
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display2005
Emerita Professor Katherine Bushby
Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention2005
Emerita Professor Katherine Bushby
SOX2 anophthalmia syndrome2005
Emerita Professor Katherine Bushby
SOX2 anophthalmia syndrome2005
Dr Daniel Birchall
Emeritus Professor David Bates
Emerita Professor Katherine Bushby
Professor Patrick Chinnery
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure2005
Dr Steven Laval
Dr Lynsey Cree
Faye Haldane
Ilka Wappler
Dr Heiko Peters
et al.
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice2005
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
The impact of corticosteroids on forced vital capacity in Duchenne muscular dystrophy2005
Emerita Professor Katherine Bushby
Professor Volker Straub
The most common mutation in FKRP causing limb girdle muscular dystrophy type 21 (LGMD2I) may have occurred only once and is present in Hutterites and other populations2005
Emerita Professor Katherine Bushby
Dr John Bourke
Dr Robert Bullock
Dr Michelle Eagle
Mark Gibson
et al.
The multidisciplinary management of Duchenne muscular dystrophy2005
Emerita Professor Katherine Bushby
Titinopathies: What happens when a big gene mutates in a big family?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 Netherlands2004
Emerita Professor Katherine Bushby
117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders - Congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands2004
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Professor Volker Straub
A new mutation in the transmembrane domain of Caveolin-3 in a patient with percussion-induced rapid muscle contractions2004
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Abnormalities in alpha-Dystroglycan Expression in MDC1C and LGMD21 Muscular Dystrophies2004
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 32004
Dr John Bourke
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I2004
Dr Steven Laval
Dr Lynsey Cree
Faye Haldane
Ilka Wappler
Professor Hanns Lochmuller
et al.
Cell culture, biochemical and microarray analyses of dysferlin2004
Dr Steven Laval
Emerita Professor Katherine Bushby
Characterisation of the dysferlin skeletal muscle promoter2004
Dr Anne Lampe
Professor Volker Straub
Dr Michael Wright
Dr Sara Brown
Emerita Professor Katherine Bushby
et al.
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity2004
Dr Michelle Eagle
Professor Volker Straub
Emerita Professor Katherine Bushby
Experience of applying the UK consensus on the use of corticosteroids in DMD2004
Dr John Bourke
Emerita Professor Katherine Bushby
Extreme Variability of Phenotype in Patients with an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset with Severe Phenotype to Milder Classic Emery-Dreifuss Variant2004
Dr Steven Laval
Ilka Wappler
Dr Lynsey Cree
Faye Haldane
Dr Heiko Peters
et al.
Gene expression profiling in dysferlin-deficient marine muscle: differential gene expression in proximal and distal muscle groups2004
Wheldon Houlsby
Emerita Professor Katherine Bushby
Dr Timothy Cheetham
Hypercalcaemia in infancy; A presenting feature of spinal muscular atrophy2004
Dr Steven Laval
Emerita Professor Katherine Bushby
Limb-girdle muscular dystrophies - From genetics to molecular pathology2004
Dr Anne Lampe
Emerita Professor Katherine Bushby
Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations2004
Dr Anne Lampe
Emerita Professor Katherine Bushby
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry2004
Faye Haldane
Emerita Professor Katherine Bushby
Dr Louise VB Anderson
Problems associated with the detection and interpretation of dysferlin deficiency2004
Emerita Professor Katherine Bushby
Recent advances in paediatric muscular dystrophies2004
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Report of a Muscular Dystrophy Campaign funded workshop to review the prevalence of osteoporosis in DMD and its treatment and prevention2004
Emerita Professor Katherine Bushby
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2-4 April 2004, Naarden, The Netherlands2004
Dr Jennifer Soutter
Neil Hamilton
Peter Russell
Emerita Professor Katherine Bushby
Professor Kim Bartlett
et al.
The golden freeway: A preliminary evaluation of a pilot study advancing information technology as a social Intervention for boys with Duchenne muscular dystrophy and their families2004
Emerita Professor Katherine Bushby
Professor Volker Straub
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once2004
Emerita Professor Katherine Bushby
Dr John Bourke
107th ENMC International Workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands2003
Emerita Professor Katherine Bushby
Dr John Bourke
107th ENMC sponsored workshop - the management of cardiac involvement in muscular dystrophy2003
Emerita Professor Katherine Bushby
Professor Volker Straub
114th ENMC Internation Workshop on Congenital Muscular Dystrophy (CMD)2003
Emerita Professor Katherine Bushby
Professor Volker Straub
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)2003
Professor Volker Straub
Emerita Professor Katherine Bushby
A common founder mutation in FKRP causes limb girdle muscular dystrophy type 21 (LGMD21) in both Hutterite and European populations2003
Dr Michelle Eagle
Dr Robert Bullock
Emerita Professor Katherine Bushby
By simple non-invasive monitoring, the need for ventilation in Duchenne muscular dystrophy can be predicted2003
Dr Michelle Eagle
Dr John Bourke
Emerita Professor Katherine Bushby
Experience of spinal surgery and ventilation in 91 patients with Duchenne muscular dystrophy born between 1970 and 19882003
Emerita Professor Katherine Bushby
Professor Pamela Shaw
Hereditary Spastic Paraparesis: Disrupted Intracellular Transport Associated with Spastin Mutation2003
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)2003
Professor Robert Taylor
Christopher Hayes
Emerita Professor Katherine Bushby
Emeritus Professor Doug Turnbull
Professor Pamela Shaw
et al.
Investigation of mitochondrial function in hereditary spastic paraparesis2003
Emerita Professor Katherine Bushby
Mutations Spectrum of the GNE in Hereditary Inclusion Body Myopathy Sparing the Quadriceps2003
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Rapid direct sequence analysis of the three genes encoding collagen VI2003
Dr Anne Lampe
Dr Steven Laval
Emerita Professor Katherine Bushby
Rapid direct sequence analysis of the three genes encoding collagen VI2003
Dr Janine Tomkins
Emerita Professor Katherine Bushby
Professor Pamela Shaw
Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)2003
Emerita Professor Katherine Bushby
The 105th ENMC sponsored workshop: Pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 20022003
Dr Lynsey Cree
Dr John Bourke
Dr Michelle Eagle
Dr Louise VB Anderson
Dr Daniel Birchall
et al.
The phenotype of limb-girdle muscular dystrophy type 2I2003
Emerita Professor Katherine Bushby
Treatment for the here and now - cardiac and respiratory management in muscular dystrophy2003
Dr John Bourke
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Unusual phenotype in a case of laminopathy with childhood onset, short stature, mid-face hypoplasia and early respiratory failure2003
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
X-linked Emery-Dreifuss muscular dystrophy in a female with 45X/46XX mosaic constitution2003
Emerita Professor Katherine Bushby
104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies2002
Emerita Professor Katherine Bushby
James Hewitt
Professor Volker Straub
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD)2002
Emerita Professor Katherine Bushby
Professor Volker Straub
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE26-28th October, 2001, Naarden, The Netherlands2002
Dr Anne Lampe
Dr Niamh Leonard
Emerita Professor Katherine Bushby
A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes2002
Emerita Professor Katherine Bushby
Bethlem myopathy (BETHLEM) 86th ENMC International Workshop2002
Emerita Professor Katherine Bushby
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, NLD2002
Emerita Professor Katherine Bushby
Cardiac and pulmonary investigations in Bethlem myopathy2002
Professor John Kirby
Fiona Menzies
Dr Mark Cookson
Emerita Professor Katherine Bushby
Professor Pamela Shaw
et al.
Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease2002
Emerita Professor Katherine Bushby
Solene Lefebvre
Electrophysiological findings in X-linked myopathy with excessive autophagy2002
Professor Robert Taylor
Christine Hayes
Emerita Professor Katherine Bushby
Emeritus Professor Doug Turnbull
Professor Pamela Shaw
et al.
Investigation of mitochondrial function in hereditary spastic paraparesis2002
Emerita Professor Katherine Bushby
Solene Lefebvre
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q132002
Emerita Professor Katherine Bushby
Mutations in the nebulin gene can cause severe congenital nemaline myopathy2002
Dr Michelle Eagle
Dr John Bourke
Dr Robert Bullock
Dr Lynsey Cree
Dr Mark Buddles
et al.
Respiratory and cardiac involvement are a primary part of limb-girdle muscular dystrophy 2I2002
Emerita Professor Katherine Bushby
The limb-girdle muscular dystrophies2002
Dr Anne Lampe
Dr Niamh Leonard
Mary Johnson
Emerita Professor Katherine Bushby
Ullrich-like congenital muscular dystrophy without linkage to collagen VI2002
Professor Patrick Chinnery
Mary Johnson
Dr Timothy Walls
Dr Peter Fawcett
Sheila Jamieson
et al.
A novel autosomal dominant distal myopathy with early respiratory failure2001
Professor Patrick Chinnery
Dr Margaret Johnson
Dr Timothy Walls
Emeritus Professor John Gibson
Dr Peter Fawcett
et al.
A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci2001
Professor Patrick Chinnery
Dr Timothy Walls
Dr Peter Fawcett
Sheila Jamieson
Dr Michael Cullen
et al.
A novel autosomal dominant inclusion body myopathy with early respiratory failure links to chromosome 6q2001
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Analysis of skeletal muscle from patients with facioscapulohumeral dystrophy2001
Emerita Professor Katherine Bushby
Dr Louise VB Anderson
Autosomal dominant limb-girdle muscular dystrophy: description of a phenotype2001
Dr John Bourke
Emerita Professor Katherine Bushby
Cardiac status of dystrophinopathy carriers: how significant is the problem?2001
Rebecca Harrison
Dr Steven Laval
Dr Rumaisa Bashir
Emerita Professor Katherine Bushby
Characterisation of the dysferlin muscle promoter2001
Dr Elizabeth Vafiadaki
Dr Alexandra Reis
Ruth Harrison
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
et al.
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation2001
Emerita Professor Katherine Bushby
Dr Louise VB Anderson
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations2001
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Facioscapulohumeral muscular dystrophy: gait analysis and effectiveness of ankle foot orthoses (AFOs)2001
Emerita Professor Katherine Bushby
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy2001
Dr Janet Lindsey
Dr Meryl Lusher
Emerita Professor Katherine Bushby
Professor Pamela Shaw
Genotype-phenotype correlation in hereditary spastic paraparesis2001
Dr Louise VB Anderson
Dr Rumaisa Bashir
Professor Volker Straub
Emerita Professor Katherine Bushby
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C2001
Emerita Professor Katherine Bushby
Novel dysferlin mutations in Brazilian LGMD2B patients2001
Dr Meryl Lusher
Dr Janet Lindsey
Emeritus Professor Doug Turnbull
Emerita Professor Katherine Bushby
Professor Pamela Shaw
et al.
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.2001
Dr Julie Gray
Rebecca Harrison
Dr Elizabeth Vafiadaki
Dr Robert Pogue
Emerita Professor Katherine Bushby
et al.
Secondary changes in dysferlin expression2001
Dr Robert Pogue
Dr Louise VB Anderson
Dr Angela Pyle
Jennifer Moss
Emerita Professor Katherine Bushby
et al.
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies2001
Emerita Professor Katherine Bushby
The limb-girdle muscular dystrophies2001
Dr Louise VB Anderson
Dr Robert Pogue
Dr Angela Pyle
Emerita Professor Katherine Bushby
The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach2001
Emerita Professor Katherine Bushby
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene2000
Dr Kathleen White
Dr Meryl Lusher
Dr Janet Lindsey
Professor Pamela Shaw
Emerita Professor Katherine Bushby
et al.
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation2000
Emerita Professor Katherine Bushby
Professor Raj Kalaria
Professor David Burn
Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL2000
Emerita Professor Katherine Bushby
Dysferlin and muscular dystrophy2000
Emerita Professor Katherine Bushby
Genetics and the muscular dystrophies2000
Dr Kathleen White
Emerita Professor Katherine Bushby
Professor Pamela Shaw
Hereditary spastic paraparesis: a review of new developments2000
Dr Christopher Morris
Emerita Professor Katherine Bushby
Professor Raj Kalaria
Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families2000
Dr Christopher Morris
Emerita Professor Katherine Bushby
Professor David Burn
Professor Raj Kalaria
Hereditary vascular dementia linked to Notch 3 mutations: CADASIL in British families2000
Professor Raj Kalaria
Natalie Cookson
Arthur Oakley
Dr Christopher Morris
Emerita Professor Katherine Bushby
et al.
Microvascular pathology in familial multi-infarct dementia or CADASIL: implications for cerebral blood flow.2000
Emerita Professor Katherine Bushby
Dr Margaret Johnson
Minicore myopathy in children: A clinical and histopathological study of 19 cases2000
Emerita Professor Katherine Bushby
Dr Margaret Johnson
Minicore myopathy in children: a clinical and histopathological study of 19 cases2000
Dr Michelle Eagle
Dr Robert Bullock
Emerita Professor Katherine Bushby
Multicore myopathy: Respiratory failure and paraspinal muscle contractures are important complications2000
Dr Rumaisa Bashir
Emerita Professor Katherine Bushby
Muscular dystrophy due to dysferlin deficiency in Libyan Jews - Clinical and genetic features2000
Dr Rumaisa Bashir
Emerita Professor Katherine Bushby
Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features.2000
Dr Janet Lindsey
Dr Meryl Lusher
Dr Kathleen White
Dr Rumaisa Bashir
Professor Pamela Shaw
et al.
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis2000
Dr Louise VB Anderson
Ruth Harrison
Dr Robert Pogue
Dr Elizabeth Vafiadaki
Jennifer Moss
et al.
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)2000
Stephen Britton
Dr Elizabeth Vafiadaki
Sharon Foster
Rebecca Harrison
Emerita Professor Katherine Bushby
et al.
The third human FER-1-like protein is highly similar to dysferlin2000
Emerita Professor Katherine Bushby
66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands1999
Dr Robert Pogue
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Calpainopathy - A survey of mutations and polymorphisms1999
Dr Robert Pogue
Emerita Professor Katherine Bushby
Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?1999
Dr Robert Pogue
Emerita Professor Katherine Bushby
Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: a role for coronary dysfunction?1999
Dr Louise VB Anderson
Emerita Professor Katherine Bushby
Dr Robert Pogue
Dr Angela Pyle
Definition of the phenotype in limb-girdle muscular dystrophy (LGMD) 2A, (calpainopathy)1999
Emerita Professor Katherine Bushby
Dysferlin and muscular dystrophy1999
Dr Louise VB Anderson
Dr Rumaisa Bashir
Dr Elizabeth Vafiadaki
Rebecca Harrison
Emerita Professor Katherine Bushby
et al.
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B1999
Dr Louise VB Anderson
Jennifer Moss
Dr Michael Cullen
Dr Margaret Johnson
Dr Rumaisa Bashir
et al.
Dysferlin is a plasma membrane protein and is expressed early in human development1999
Emerita Professor Katherine Bushby
Emeritus Professor Jimmy Steele CBE
Failure of early diagnosis in symptomatic Duchenne muscular dystrophy1999
Dr Rumaisa Bashir
Dr Louise VB Anderson
Jennifer Moss
Stephen Britton
Dr Elizabeth Vafiadaki
et al.
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)1999
Dr Rumaisa Bashir
Emerita Professor Katherine Bushby
Identical mutation in the dysferlin gene can cause either a limb girdle muscular dystrophy Type 2B or a Miyoshi myopathy phenotype.1999
Emerita Professor Katherine Bushby
Making sense of the limb-girdle muscular dystrophies1999
Emerita Professor Katherine Bushby
Dr Louise VB Anderson
Dr Rumaisa Bashir
Merosin-positive congenital muscular dystrophy: a large inbred family1999
Daniel Haggerty
Emerita Professor Katherine Bushby
Professor Patrick Chinnery
Dr Ann Curtis
Molecular diagnostic testing for Facioscapulohumeral muscular dystrophy, the Newcastle experience1999
Dr Louise VB Anderson
Dr Rumaisa Bashir
Dr Elizabeth Vafiadaki
Jennifer Moss
Rebecca Harrison
et al.
Redesignation of the SJL mouse (SJL-dysf) as a model for human dysferlin-deficient muscle disorders1999
Dr Robert Pogue
Dr Angela Pyle
Rebecca Harrison
Dr Louise VB Anderson
Dr Ann Curtis
et al.
Strategy for mutation analysis in the autosomal recessive limb girdle muscular dystrophies1999
Emerita Professor Katherine Bushby
The limb-girdle muscular dystrophies - multiple genes, multiple mechanisms1999
Emerita Professor Katherine Bushby
The limb-girdle muscular dystrophies [directory], Child, Human, Muscular Dystrophies/*genetics1999