Publications by Emerita Professor Katherine Bushby - ePrints

Browsing publications by Emerita Professor Katherine Bushby.

Newcastle Authors	Title	Year
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 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 Marianela Schiava Dr Henriette van Ruiten Dr Anna Mayhew Emerita Professor Elaine McColl Dr Tracey Willis et al.	Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.	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
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 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 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
Dr John Bourke Gillian Watson Andrew Bryant Dr Thomas Chadwick Ruth Wood et al.	Preventing Cardiomyopathy in DMD	2021
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
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
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
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 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 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 John Bourke Gillian Watson Professor Michela Guglieri Chris Speed Emerita 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 study	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
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 diagnosis	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
Professor Michela Guglieri Dr Alex Murphy Emerita Professor Katherine Bushby Dr John Bourke	Cardiac involvement in female carriers of duchenne or becker 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
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
Professor Hanns Lochmuller Emerita Professor Katherine Bushby Rachel Thompson Victoria Hedley	Improved diagnosis and care for rare diseases through implementation of precision public health framework	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
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 caveolinopathies	2016
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 diagnosis	2016
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
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 Union	2016
Dr Ursula Moore Meredith James Dr Anna Mayhew Dr Fiona Smith Dr Lizzie Harris et al.	Clinical outcome study for dysferlinopathy: One-year follow-up	2016
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
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
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 gene	2016
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
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
Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby	Quantifying the burden of caregiving in Duchenne muscular dystrophy	2016
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 cohort	2016
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
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
Dr Lizzie Harris Dr Catherine Bladen Dr Anna Mayhew Meredith James Karen Bettinson et al.	The Clinical Outcome Study for dysferlinopathy: An international multicenter study	2016
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 Networks	2016
Dr Rita Barresi Emerita Professor Katherine Bushby	The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility	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
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
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
Sunil Rodger Dr Catherine Bladen Emerita Professor Katherine Bushby Professor Hanns Lochmuller	Adult care for Duchenne muscular dystrophy in the UK	2015
Rebecca Crow Professor Michela Guglieri Emerita 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 DMD	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 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 period	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
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 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 dystroglycanopathies	2015
Emerita Professor Katherine Bushby	First drug registry in Duchenne muscular dystrophy (DMD) to assess Translarna (Ataluren) use, safety, and effectiveness in routine clinical practice	2015
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
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
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
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
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 dystroglycanopathies	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 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
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 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 dysferlinopathy	2015
Professor Michela Guglieri Emerita 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 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
Dr Alex Murphy Professor 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 analysis	2015
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 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
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
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
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
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
Emerita Professor Katherine Bushby Dr Michelle Eagle	Ataluren treatment of patients with nonsense mutation dystrophinopathy	2014
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
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
Emerita Professor Katherine Bushby Dr Debbie Hicks	Collagen Type VI Myopathies	2014
Emerita Professor Katherine Bushby Dr Debbie Hicks	Collagen type VI myopathies	2014
Dr Michelle Eagle Emerita Professor Katherine Bushby	Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients	2014
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
Professor Michela Guglieri Dr Henriette van Ruiten Professor Volker Straub Emerita Professor Katherine Bushby	Improving the diagnosis of Duchenne muscular dystrophy	2014
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 patients	2014
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
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy	2014
Dr Debbie Hicks Dr Steven Laval Dr Anna Sarkozy Elena Martoni Professor Hanns Lochmuller et al.	Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy	2014
Dr Amina Chaouch Daniel Cox Dr Steven Laval Dr Helen Griffin Dr Teresinha Evangelista et al.	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission	2014
Dr Michelle Eagle Emerita Professor Katherine Bushby	One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development	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
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
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
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 Research	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
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 Richard Charlton Emerita Professor Katherine Bushby Dr Rita Barresi	The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle	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
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
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation	2013
Dr 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
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 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 scales	2013
Dr Debbie Hicks Emerita Professor Katherine Bushby	Collagen type VI myopathies	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
Emerita Professor Elaine McColl Emerita Professor Katherine Bushby	Corticosteroids in Duchenne muscular dystrophy: Major variations in practice	2013
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 diagnosis	2013
Dr Anna Mayhew Dr Michelle Eagle Emerita Professor Katherine Bushby	Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy	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
Emerita Professor Helen McConachie Professor Ann Le Couteur Professor Michela Guglieri Emerita Professor Katherine Bushby	Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy	2013
Dr Amina Chaouch Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller	Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome	2013
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
Dr Debbie Hicks Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family	2013
Dr 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
Dr Mark Hornsey Dr Steven Laval Dr Rita Barresi Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Muscular dystrophy in dysferlin-deficient mouse models	2013
Dr 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 trials	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
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
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
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 abnormalities	2013
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
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
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
Dr Liesbeth De Waele Emerita Professor Katherine Bushby Dr Rita Barresi	Autosomal recessive desminopathy with desmin-null mutations presenting in childhood	2012
Dr Rita Barresi Dr Liesbeth De Waele Emerita Professor Katherine Bushby	Autosomal recessive desminopathy with desmin-null mutations presenting in childhood	2012
alasdair Wood Pia Cumine Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish	2012
Dr Alison Blain Liz Greally Dr Guy MacGowan Dr Steven Laval Professor Andrew Blamire et al.	Beta-blocker/ACE-inhibitor combination treatment in mdx mice	2012
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
Sunil Rodger Emerita Professor Katherine Bushby Professor Hanns Lochmuller	CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy	2012
Sunil Rodger Professor Hanns Lochmuller Emerita Professor Katherine Bushby	CARE-NMD: Improving care for Duchenne muscular dystrophy	2012
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 dystrophy	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 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 Myopathies	2012
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
Dr Anne Lampe Emerita Professor Katherine Bushby Dr Debbie Hicks	Collagen Type VI-related disorders	2012
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
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 survey	2012
Dr Amina Chaouch Dr Anna Sarkozy Professor Hanns Lochmuller Emerita Professor Katherine Bushby	FSHD extended deletion analysis using the D4Z4 1kb probe - a case study	2012
Sunil Rodger Professor Hanns Lochmuller Emerita Professor Katherine Bushby	How reference networks develop, implement, and monitor guidelines	2012
Dr Debbie Hicks Elena Martoni Professor Volker Straub Professor Hanns Lochmuller Dr Steven Laval et al.	Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing	2012
Dr Alasdair Wood Dr Juliane Mueller Dr Steven Laval Professor Hanns Lochmuller Emerita Professor Katherine Bushby et al.	Investigating basement membranes in FKRP and fukutin deficient zebrafish	2012
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
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
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
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 dystropy	2012
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al.	A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy	2011
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Professor Patrick Chinnery et al.	A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy	2011
Dr Alasdair Wood Dr Juliane Mueller Catherine Jepson Dr Steven Laval Professor Hanns Lochmuller et al.	Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency	2011
Dr 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 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 dystrophinopathy	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
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 disease	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 Alasdair Wood Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Generating stable FKRP mutant zebrafish lines with zinc finger nucleases	2011
Dr Juliane Mueller Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller et al.	Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect	2011
Dr Rita Barresi Emerita Professor Katherine Bushby	Infantile onset myofibrillar myopathy due to recessive CRYAB mutations	2011
Dr Louise Jorgensen Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire et al.	Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle	2011
Dr Alison Blain Liz Greally Dr Steven Laval Professor Andrew Blamire Professor Hanns Lochmuller et al.	Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouse	2011
Dr 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
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
Dr Anna Sarkozy Dr Debbie Hicks Professor Hanns Lochmuller Emerita Professor Katherine Bushby Professor Volker Straub et al.	Muscle MRI findings in LGMD2L	2011
Emerita Professor Katherine Bushby	Neuromuscular diseases: Milestones in development of treatments	2011
Dr Hacer Durmus Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients	2011
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
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
Mafalda Cacciottolo Dr Steven Laval Emerita Professor Katherine Bushby	Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins	2011
Emerita Professor Katherine Bushby	166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands	2010
Emerita Professor Katherine Bushby	170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27-29 November 2009, Naarden, The Netherlands	2010
Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al.	Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency	2010
Dr 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
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
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
Emerita Professor Katherine Bushby Dr Rita Barresi	Calpainopathy presenting as foot drop in a 41 year old	2010
Emerita Professor Katherine Bushby Dr Michelle Eagle	Consensus Statement on Standard of Care for Congenital Muscular Dystrophies	2010
Emerita Professor Katherine Bushby	Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management	2010
Emerita Professor Katherine Bushby	Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care	2010
Dr Juliane Mueller Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Volker Straub et al.	Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes	2010
Dr Lars Klinge Dr Richard Charlton Dr Steven Laval Dr Mark Hornsey Professor Volker Straub et al.	Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle	2010
Professor Michela Guglieri Emerita 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 MRI	2010
Professor Volker Straub Emerita Professor Katherine Bushby	Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations	2010
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
Dr Ralf Bauer Dr Alison Blain Liz Greally Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Intolerance to beta-blockade in a mouse model of delta-sarcoglycan-deficient muscular dystrophy cardiomyopathy	2010
Catherine Jepson Dr Steven Laval Emerita Professor Katherine Bushby Professor Hanns Lochmuller Dr Rita Barresi et al.	Modelling the role of dystroglycan glycosylation in angiogenesis using zebrafish	2010
Professor Michela Guglieri Emerita Professor Katherine Bushby	Molecular treatments in Duchenne muscular dystrophy	2010
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
Dr Anna Sarkozy Dr Debbie Hicks Professor Hanns Lochmuller Emerita Professor Katherine Bushby Professor Volker Straub et al.	Muscle MRI findings in anoctaminopathy	2010
Dr Richard Charlton Dr Anna Sarkozy Dr Debbie Hicks Emerita Professor Katherine Bushby Dr Rita Barresi et al.	Muscle protein profile in Anoctaminopathies	2010
Dr Debbie Hicks Dr Anna Sarkozy Dr Nuria Muelas Gomez Professor Gavin Hudson Dr Rita Barresi et al.	Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy	2010
Dr 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
Emerita Professor Katherine Bushby Professor Volker Straub	One gene, one or many diseases?: Simplifying dysferlinopathy	2010
Professor Volker Straub Emerita Professor Katherine Bushby Professor Michela Guglieri	Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion	2010
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
Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby	Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials	2010
Emerita Professor Katherine Bushby Emma Heslop Dr Pauline McCormack Emeritus 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 2009	2010
Dr Anna Sarkozy Dr Rumaisa Bashir Dr Debbie Hicks Dr Rita Barresi Dr Steven Laval et al.	The first UK family with Ano5-associated myopathy	2010
Emerita Professor Katherine Bushby Dr Michelle Eagle	The Respiratory Management of Patients With Duchenne Muscular Dystrophy: A DMD Care Considerations Working Group Specialty Article	2010
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
Yen-Hui Chiu Dr Mark Hornsey Dr Lars Klinge Dr Louise Jorgensen Dr Steven Laval et al.	Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy	2009
Dr Steven Laval Dr Louise Jorgensen Dr Mark Hornsey Dr Lars Klinge Dr Richard Charlton et al.	Attenuated muscle regeneration is a key factor in dysferlinopathy	2009
Dr Alison Blain Dr Ralf Bauer Dr Guy MacGowan Liz Greally Dr Steven Laval et al.	Attenuation of adverse effects of prednisolone on delta-sarcoglycandeficient cardiomyopathy by mineralocorticoid-receptorant-agonism	2009
Dr 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
Emerita Professor Katherine Bushby Dr Stephen Lynn Professor Volker Straub	Collaborating to bring new therapies to the patient - The TREAT-NMD model	2009
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
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
Emerita Professor Katherine Bushby	Diagnosis and management of the limb girdle muscular dystrophies	2009
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 heterogeneity	2009
Dr Ralf Bauer Dr John Hudson Dr John Bourke Daniel Routledge Emerita Professor Katherine Bushby et al.	G.P.10.02: Does delta-sarcoglycan-associated autosomal dominant cardiomyopathy exist?	2009
Emerita Professor Katherine Bushby	G.P.13.05: The diagnosis and management of Duchenne muscular dystrophy: Internationally generated care recommendations	2009
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
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 clinic	2009
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
Liz Greally Dr Benjamin Davison Dr Alison Blain Dr Steven Laval Professor Hanns Lochmuller et al.	Magnetic resonance imaging of cardiac function in mouse models for muscular dystrophy associated cardiomyopathy	2009
Dr 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
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
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
Dr Debbie Hicks Dr Anne Lampe Dr Steven Laval Professor Volker Straub Professor Hanns Lochmuller et al.	Response to letter from Bernardi	2009
Dr Mark Hornsey Yen-Hui Chiu Dr Louise Jorgensen Dr Lars Klinge Dr Steven Laval et al.	The evaluation of novel therapeutic strategies for the treatment of dysferlinopathy	2009
Dr Louise Jorgensen Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	The stretch-activated calcium channel candidate proteins TRPC1 and 3 present a distinctly different expression pattern in mdx mice	2009
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
Emerita Professor Katherine Bushby Professor Hanns Lochmuller	157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands	2008
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
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
Professor Volker Straub Emerita Professor Katherine Bushby	Brain involvement in muscular dystrophies with defective dystroglycan glycosylation	2008
Emerita Professor Katherine Bushby	Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle	2008
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
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
Emerita Professor Katherine Bushby Dr Tom Shakespeare Emeritus Professor Simon Woods	Consent, Choice and Children in Genetic Research	2008
Dr Ross Henderson Dr Tom Shakespeare Emerita Professor Katherine Bushby Emeritus 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 projects	2008
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
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
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
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
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
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 amyloidosis	2008
Dr Michelle Eagle Emerita Professor Elaine McColl Geoff Bell Emerita Professor Katherine Bushby	Equipoise concerning corticosteroid use in boys with Duchenne muscular dystrophy: persistent wide variations in practice	2008
Dr Anne Lampe Dr Debbie Hicks Dr Steven Laval Dr Richard Charlton Professor Volker Straub et al.	Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance	2008
Dr Lars Klinge Dr Steven Laval Dr Rita Barresi Professor Hanns Lochmuller Professor Volker Straub et al.	G.P.10.05:Preclinical drug trials in vestigating potential treatments for dysferlin deficiency	2008
Dr Lars Klinge Dr Steven Laval Dr Mark Hornsey Yen-Hui Chiu Professor Volker Straub et al.	G.P.10.06: Abnormal T-tubule morphology in dysferlin deficient muscle	2008
Dr Julie Murphy Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby Professor Robert Taylor et al.	G.P.10.09 Mitochondrial dysfunction in dysferlinopathy	2008
Dr Richard Charlton Emerita Professor Katherine Bushby Dr Rita Barresi	G.P.14.01: Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A	2008
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 analysis	2008
Professor Michela Guglieri Emerita Professor Katherine Bushby	How to go about diagnosing and managing the limb-girdle muscular dystrophies	2008
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
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
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
Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller	Limb-girdle muscular dystrophies	2008
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
Dr Penelope Garrood Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub	Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy	2008
Dr Paul Thornhill Emerita Professor Katherine Bushby Professor Volker Straub Professor Hanns Lochmuller	Neuromuscular junction formation in Dok-7 deficient zebrafish embryos	2008
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
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 2B	2008
Dr Ralf Bauer Dr Guy MacGowan Dr Alison Blain Emerita Professor Katherine Bushby Professor Volker Straub et al.	Steroid treatment causes deterioration of myocardial function in the δ-sarcoglycan-deficient mouse model for dilated cardiomyopathy	2008
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
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
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 myopathy	2008
Professor Volker Straub Emerita Professor Katherine Bushby	Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies	2008
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 Netherlands	2007
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 mutations	2007
Dr Steven Laval Dr Louise VB Anderson Professor Volker Straub Emerita Professor Katherine Bushby	AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration	2007
Dr 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
Dr Lars Klinge Professor Robin Harris Dr Richard Charlton Professor Volker Straub Dr Rita Barresi et al.	Dysferlin in muscle regeneration	2007
Dr Lars Klinge Dr Richard Charlton Dr Rita Barresi Emerita Professor Katherine Bushby	Dysferlinopathy with very late onset and untypical clinical presentation	2007
Dr Fiona Norwood Professor Hanns Lochmuller Emerita Professor Katherine Bushby	EFNS guideline on diagnosis and management of limb girdle muscular dystrophies	2007
Dr Lars Klinge Dr Steven Laval Sharon Foster Faye Haldane Professor Volker Straub et al.	From T-tubule to sarcolemma: Damage-induced dysferlin translocation in early myogenesis	2007
Emerita Professor Katherine Bushby	Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia: Clinical features of a large pedigree	2007
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
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
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
Hongwei Zhou Emerita Professor Katherine Bushby Professor Volker Straub Rachel Appleton	Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies	2007
Dr Iain McKinnon Emerita Professor Katherine Bushby Professor Patrick Chinnery Dr Daniel Birchall	MRI for the demonstration of subclinical muscle involvement in muscular dystrophy	2007
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
Dr Penelope Garrood Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub	Myoglobinuria in steroid-treated Duchenne muscular dystrophy	2007
Professor Volker Straub Emerita Professor Katherine Bushby	Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan	2007
Emerita Professor Katherine Bushby	Report on the 149th ENMC International Workshop and 1st TREAT-NMD Workshop	2007
Professor Volker Straub Emerita Professor Katherine Bushby	Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies	2007
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	The functional involvement of lamin A and LAPa in human ageing: the role for lamina protein redox modifications in senescence signaling	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
Emerita Professor Katherine Bushby	[abstract] Congenital arthrogryposis and dilated cardiomyopathy associated with a R644C substitution in the Lamin A/C gene	2006
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 mutations	2006
Emerita Professor Katherine Bushby	A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium	2006
Emerita Professor Katherine Bushby	A practical guide to diagnosis and management in the limb-girdle muscular dystrophies	2006
Dr Steven Laval Emerita Professor Katherine Bushby	Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3	2006
Professor Volker Straub Emerita Professor Katherine Bushby	Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene	2006
Emerita Professor Katherine Bushby	COL6A1 genomic deletions in bethlem myopathy and ullrich muscular dystrophy	2006
Dr Inderbir Gill Dr Michelle Eagle Emerita Professor Katherine Bushby Dr Robert Bullock	Correction of neuromuscular scoliosis in patients with preexisting respiratory failure	2006
Dr Lars Klinge Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby	Damage-induced dysferlin translocation in C2C12 myotubes requires the full length protein	2006
Dr Anne Lampe Dr Debbie Hicks Dr John Hudson Dr Steven Laval Dr Richard Charlton et al.	Development of a diagnostic algorithm for patients with a Bethlem myopathy clinical phenotype	2006
Dr Steven Laval Emerita Professor Katherine Bushby	Dysferlin interacts with AHNAK: secondary reduction of AHNAK in dysferlinopathy patients	2006
Emerita Professor Katherine Bushby	Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy	2006
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 mice	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
Emerita Professor Katherine Bushby	Muscular dystrophy campaign funded workshop on management of scoliosis in Duchenne muscular dystrophy 24 January 2005, London, UK	2006
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
Emerita Professor Katherine Bushby Professor Ann Le Couteur Emerita Professor Helen McConachie	Survey of behaviour problems in children with neuromuscular diseases	2006
Professor Volker Straub Emerita Professor Katherine Bushby	The Childhood Limb-Girdle Muscular Dystrophies	2006
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 Netherlands	2005
Emerita Professor Katherine Bushby	134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands	2005
Emerita Professor Katherine Bushby	A novel locus for congenital muscular dystrophy maps to chromosome 4p16.3	2005
Emeritus Professor Clarke Slater Dr Steven Laval Professor Volker Straub Emerita Professor Katherine Bushby Dr Louise VB Anderson et al.	Altered protein localisation during muscle regeneration in humans and rats	2005
Dr Anne Lampe Dr Steven Laval Katarzyna Swoboda Emerita Professor Katherine Bushby	Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy	2005
Dr 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 Anne Lampe Emerita Professor Katherine Bushby	Collagen VI related muscle disorders	2005
Emerita Professor Katherine Bushby	Continued need for caution in the diagnosis of Duchenne muscular dystrophy	2005
Dr Anne Lampe Emerita Professor Katherine Bushby	Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy	2005
Emerita Professor Katherine Bushby	Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy	2005
Dr Steven Laval Emerita Professor Katherine Bushby	Functional analysis of the dysferlin protein complex by phage display derived heavy chain antibody fragments	2005
Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub	Limb girdle muscular dystrophies - Dominant forms; Poster presentations	2005
Emerita Professor Katherine Bushby	Limb-girdle muscular dystrophy - Lessons from the clinic	2005
Emerita Professor Katherine Bushby	Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3	2005
Emerita Professor Katherine Bushby	Louise Anderson (1953-2005) - Obituary	2005
Emerita Professor Katherine Bushby Dr Daniel Birchall	Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures	2005
Emerita Professor Katherine Bushby	Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy	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
Dr Anne Lampe Emerita Professor Katherine Bushby	Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes	2005
Faye Haldane Dr Steven Laval Dr Louise VB Anderson Emerita Professor Katherine Bushby	Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display	2005
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 prevention	2005
Emerita Professor Katherine Bushby	SOX2 anophthalmia syndrome	2005
Emerita Professor Katherine Bushby	SOX2 anophthalmia syndrome	2005
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 failure	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
Emerita Professor Katherine Bushby Dr John Bourke Dr Robert Bullock Dr Michelle Eagle Mark Gibson et al.	The multidisciplinary management of Duchenne muscular dystrophy	2005
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 Netherlands	2004
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 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
Dr Louise VB Anderson Emerita Professor Katherine Bushby	Abnormalities in alpha-Dystroglycan Expression in MDC1C and LGMD21 Muscular Dystrophies	2004
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3	2004
Dr John Bourke Dr Michelle Eagle Professor Volker Straub Emerita Professor Katherine Bushby	Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I	2004
Dr Steven Laval Dr Lynsey Cree Faye Haldane Ilka Wappler Professor Hanns Lochmuller et al.	Cell culture, biochemical and microarray analyses of dysferlin	2004
Dr Steven Laval Emerita Professor Katherine Bushby	Characterisation of the dysferlin skeletal muscle promoter	2004
Dr 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 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 Variant	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
Wheldon Houlsby Emerita Professor Katherine Bushby Professor Timothy Cheetham	Hypercalcaemia in infancy; A presenting feature of spinal muscular atrophy	2004
Dr Steven Laval Emerita Professor Katherine Bushby	Limb-girdle muscular dystrophies - From genetics to molecular pathology	2004
Dr Anne Lampe Emerita Professor Katherine Bushby	Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations	2004
Dr Anne Lampe Emerita Professor Katherine Bushby	Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry	2004
Faye Haldane Emerita Professor Katherine Bushby Dr Louise VB Anderson	Problems associated with the detection and interpretation of dysferlin deficiency	2004
Emerita Professor Katherine Bushby	Recent advances in paediatric muscular dystrophies	2004
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 prevention	2004
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 Netherlands	2004
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 families	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 Dr John Bourke	107th ENMC International Workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands	2003
Emerita Professor Katherine Bushby Dr John Bourke	107th ENMC sponsored workshop - the management of cardiac involvement in muscular dystrophy	2003
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
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 predicted	2003
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 1988	2003
Emerita Professor Katherine Bushby Professor Pamela Shaw	Hereditary Spastic Paraparesis: Disrupted Intracellular Transport Associated with Spastin Mutation	2003
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 paraparesis	2003
Emerita Professor Katherine Bushby	Mutations Spectrum of the GNE in Hereditary Inclusion Body Myopathy Sparing the Quadriceps	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
Dr Anne Lampe Dr Steven Laval Emerita Professor Katherine Bushby	Rapid direct sequence analysis of the three genes encoding collagen VI	2003
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, 2002	2003
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 2I	2003
Emerita Professor Katherine Bushby	Treatment for the here and now - cardiac and respiratory management in muscular dystrophy	2003
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 failure	2003
Dr Louise VB Anderson Emerita Professor Katherine Bushby	X-linked Emery-Dreifuss muscular dystrophy in a female with 45X/46XX mosaic constitution	2003
Emerita Professor Katherine Bushby	104th European Neuromuscular Centre (ENMC) International Workshop: Distal myopathies	2002
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
Dr Anne Lampe Dr Niamh Leonard Emerita Professor Katherine Bushby	A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes	2002
Emerita Professor Katherine Bushby	Bethlem myopathy (BETHLEM) 86th ENMC International Workshop	2002
Emerita Professor Katherine Bushby	Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, NLD	2002
Emerita Professor Katherine Bushby	Cardiac and pulmonary investigations in Bethlem myopathy	2002
Emeritus 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 disease	2002
Emerita Professor Katherine Bushby Solene Lefebvre	Electrophysiological findings in X-linked myopathy with excessive autophagy	2002
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 paraparesis	2002
Emerita Professor Katherine Bushby Solene Lefebvre	Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13	2002
Emerita Professor Katherine Bushby	Mutations in the nebulin gene can cause severe congenital nemaline myopathy	2002
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 2I	2002
Emerita Professor Katherine Bushby	The limb-girdle muscular dystrophies	2002
Dr Anne Lampe Dr Niamh Leonard Mary Johnson Emerita Professor Katherine Bushby	Ullrich-like congenital muscular dystrophy without linkage to collagen VI	2002
Professor Patrick Chinnery Mary Johnson Dr Timothy Walls Dr Peter Fawcett Sheila Jamieson et al.	A novel autosomal dominant distal myopathy with early respiratory failure	2001
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 loci	2001
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 6q	2001
Dr Louise VB Anderson Emerita Professor Katherine Bushby	Analysis of skeletal muscle from patients with facioscapulohumeral dystrophy	2001
Emerita Professor Katherine Bushby Dr Louise VB Anderson	Autosomal dominant limb-girdle muscular dystrophy: description of a phenotype	2001
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 promoter	2001
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 mutation	2001
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 mutations	2001
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 myopathy	2001
Dr Janet Lindsey Dr Meryl Lusher Emerita Professor Katherine Bushby Professor Pamela Shaw	Genotype-phenotype correlation in hereditary spastic paraparesis	2001
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
Emerita Professor Katherine Bushby	Novel dysferlin mutations in Brazilian LGMD2B patients	2001
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 expression	2001
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 dystrophies	2001
Emerita Professor Katherine Bushby	The limb-girdle muscular dystrophies	2001
Dr Louise VB Anderson Dr Robert Pogue Dr Angela Pyle Emerita Professor Katherine Bushby	The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach	2001
Emerita Professor Katherine Bushby	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene	2000
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 mutation	2000
Emerita Professor Katherine Bushby Professor Raj Kalaria Professor David Burn	Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL	2000
Emerita Professor Katherine Bushby	Dysferlin and muscular dystrophy	2000
Emerita Professor Katherine Bushby	Genetics and the muscular dystrophies	2000
Dr Kathleen White Emerita Professor Katherine Bushby Professor Pamela Shaw	Hereditary spastic paraparesis: a review of new developments	2000
Dr Christopher Morris Emerita Professor Katherine Bushby Professor Raj Kalaria	Hereditary vascular dementia linked to notch 3 mutations - CADASIL in British families	2000
Dr Christopher Morris Emerita Professor Katherine Bushby Professor David Burn Professor Raj Kalaria	Hereditary vascular dementia linked to Notch 3 mutations: CADASIL in British families	2000
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 cases	2000
Emerita Professor Katherine Bushby Dr Margaret Johnson	Minicore myopathy in children: a clinical and histopathological study of 19 cases	2000
Dr Michelle Eagle Dr Robert Bullock Emerita Professor Katherine Bushby	Multicore myopathy: Respiratory failure and paraspinal muscle contractures are important complications	2000
Dr Rumaisa Bashir Emerita Professor Katherine Bushby	Muscular dystrophy due to dysferlin deficiency in Libyan Jews - Clinical and genetic features	2000
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 paraparesis	2000
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 dysferlin	2000
Emerita Professor Katherine Bushby	66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands	1999
Dr Robert Pogue Dr Louise VB Anderson Emerita Professor Katherine Bushby	Calpainopathy - A survey of mutations and polymorphisms	1999
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 dystrophy	1999
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 2B	1999
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 development	1999
Emerita Professor Katherine Bushby Emeritus Professor Jimmy Steele CBE	Failure of early diagnosis in symptomatic Duchenne muscular dystrophy	1999
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 dystrophies	1999
Emerita Professor Katherine Bushby Dr Louise VB Anderson Dr Rumaisa Bashir	Merosin-positive congenital muscular dystrophy: a large inbred family	1999
Daniel Haggerty Emerita Professor Katherine Bushby Professor Patrick Chinnery Dr Ann Curtis	Molecular diagnostic testing for Facioscapulohumeral muscular dystrophy, the Newcastle experience	1999
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 disorders	1999
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 dystrophies	1999
Emerita Professor Katherine Bushby	The limb-girdle muscular dystrophies - multiple genes, multiple mechanisms	1999
Emerita Professor Katherine Bushby	The limb-girdle muscular dystrophies [directory], Child, Human, Muscular Dystrophies/*genetics	1999