Publications by Professor Michela Guglieri - ePrints

Browsing publications by Professor Michela Guglieri.

Newcastle Authors	Title	Year
Dr Marianela Schiava Professor Giorgio Tasca Dr Chiara Marini Bettolo Professor Michela Guglieri Professor Volker Straub et al.	Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis	2023
Professor Volker Straub Professor Michela Guglieri	DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials	2023
Dr Ursula Moore Esther Fernández-Simón Dr Marianela Schiava Daniel Cox Meredith James et al.	Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy	2023
Professor Volker Straub Professor Michela Guglieri	T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy	2023
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al.	The John Walton Muscular Dystrophy Research Centre Biobank	2023
Meredith James Dr Michelle Eagle Robert Muni Lofra Dr ursula Moore Professor Michela Guglieri et al.	Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale	2022
Dr Anna Mayhew Meredith James Dr ursula Moore Helen Sutherland Robert Muni Lofra et al.	Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach	2022
Dr ursula Moore Roberto Fernandez-Torron Meredith James Dr Anna Mayhew Dr Lizzie Harris et al.	Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study	2022
Dr John Bourke Catherine Turner Dr Marianela Schiava Professor Michela Guglieri	Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations	2022
Professor Michela Guglieri	Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy	2022
Dr Anna Mayhew Professor Michela Guglieri	Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation	2022
Professor Michela Guglieri Emerita Professor Katherine Bushby Emerita Professor Elaine McColl Chris Speed Jennifer Wilkinson et al.	Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial	2022
Professor Michela Guglieri	Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial	2022
Professor Michela Guglieri	Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial	2022
Dr Anna Mayhew Dionne Moat Dr Michelle Eagle Meredith James Robert Muni Lofra et al.	Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy	2022
Dr ursula Moore Professor Volker Straub Dr Rita Barresi Professor Michela Guglieri Dr Hannah Hayhurst et al.	Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy	2022
Professor Volker Straub Professor Michela Guglieri	Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial	2022
Professor Michela Guglieri Dr Anna Mayhew	Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial	2022
Professor Michela Guglieri	Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab	2022
Emma Heslop Catherine Turner Anna Irvin Professor Volker Straub Professor Michela Guglieri et al.	Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead	2021
Emerita Professor Elaine McColl Professor Michela Guglieri Professor Volker Straub	Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy	2021
Dr 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 Claire Wood Dr Kieren Hollingsworth Dr Eric Hughes Dr Sadha Punniyakodi Robert Muni Lofra et al.	Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area	2021
Professor Michela Guglieri Professor Volker Straub	The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy	2021
Dr Claire Wood Professor Michela Guglieri Professor Volker Straub Professor Timothy Cheetham	The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy	2021
Professor Michela Guglieri	Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study	2020
Professor Michela Guglieri	Multi-omics identifies circulating mirna and protein biomarkers for facioscapulohumeral dystrophy	2020
Professor Michela Guglieri Professor Volker Straub Dr Anna Sarkozy Dr Jana Haberlova Professor Giorgio Tasca et al.	New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy	2020
Professor Michela Guglieri	Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy	2020
Professor Michela Guglieri	The CINRG Becker Natural History Study: Baseline Characteristics	2020
Dr John Bourke Professor Michela Guglieri Professor Annemieke Aartsma-Rus Dr Guy MacGowan	238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018	2019
Dr Anna Mayhew Professor Michela Guglieri	Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy	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 Claire Wood Professor Timothy Cheetham Dr Kieren Hollingsworth Professor Michela Guglieri Dr Anna Mayhew et al.	Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy	2019
Dr 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 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
Professor Michela Guglieri	A multinational study on motor function in early-onset FSHD	2018
Professor Michela Guglieri	Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug	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
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
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 Cecilia Jimenez Moreno Cecilia Jimenez Moreno Dr Nikoletta Nikolenko Dr Jose Atalaia Professor Michela Guglieri et al.	Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)	2017
Dr Oksana Pogoryelova Professor Michela Guglieri Dr Chiara Marini Bettolo Professor Volker Straub Dr Teresinha Evangelista et al.	Reduced serum myostatin concentrations associated with genetic muscle disease progression	2017
Libby Wood Dr Chiara Marini Bettolo Professor Michela Guglieri Dr Grace McMacken Dr Anna Mayhew et al.	Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy	2017
Dr 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
Libby Wood Roberto Fernandez-Torron Dr John Hudson Dr Fiona Norwood Professor Michela Guglieri et al.	Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry	2016
Dr Andreas Roos Daniel Cox Dr Mojgan Reza Professor Michela Guglieri Professor Volker Straub et al.	MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience	2016
Sebastian Figueroa Bonaparte Dr Rita Barresi Dr Tuomo Polvikoski Dr Timothy Williams Dr Ana Topf et al.	Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK	2016
Dr Michelle Eagle Dr Anna Mayhew Professor Michela Guglieri Professor Volker Straub	Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials	2016
Professor Michela Guglieri Dr Teresinha Evangelista Professor Volker Straub	Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness	2016
David Rawlings Dr Claire Wood Professor Timothy Cheetham Dr Cecilia Jimenez Moreno Dr Anna Mayhew et al.	Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy	2016
Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby	Quantifying the burden of caregiving in Duchenne muscular dystrophy	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
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 Dr 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
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
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
Professor Michela Guglieri Professor Volker Straub Professor Giorgio Tasca	Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA	2015
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 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 Michelle Eagle Professor Michela Guglieri Professor Volker Straub	Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials	2015
Dr Henriette van Ruiten Professor Michela Guglieri Dr Michelle Eagle Professor Volker Straub Professor Hanns Lochmuller et al.	Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England	2015
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
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
Dr Amina Chaouch Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller	Fibronectin is a serum biomarker for Duchenne muscular dystrophy	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 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
Professor Volker Straub Dr Michelle Eagle Professor Michela Guglieri	Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study	2014
Professor Michela Guglieri Professor Volker Straub Professor Hanns Lochmuller Emerita Professor Katherine Bushby	The burden of Duchenne muscular dystrophy: An international, cross-sectional study	2014
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 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 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
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
Professor Michela Guglieri Dr Michelle Eagle Emerita Professor Katherine Bushby	Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD)	2011
Professor Giorgio Tasca Professor Michela Guglieri Emerita Professor Katherine Bushby Professor Volker Straub	Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.	2011
Professor Michela Guglieri Dr John Bourke Professor Volker Straub Emerita Professor Katherine Bushby	Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.	2011
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 Mojgan Reza Professor Michela Guglieri Professor Hanns Lochmuller	Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines	2011
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
Professor Michela Guglieri Emerita Professor Katherine Bushby	Molecular treatments in Duchenne muscular dystrophy	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
Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby	Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials	2010
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
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
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
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
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
Professor Michela Guglieri Emerita Professor Katherine Bushby	How to go about diagnosing and managing the limb-girdle muscular dystrophies	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
Professor Michela Guglieri Professor Volker Straub Emerita Professor Katherine Bushby Professor Hanns Lochmuller	Limb-girdle muscular dystrophies	2008
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 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