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Browsing publications by Dr Michela Guglieri.

Newcastle AuthorsTitleYearFull text
Meredith James
Dr Michelle Eagle
Robert Muni Lofra
Dr ursula Moore
Dr Michela Guglieri
et al.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale2022
Dr Anna Mayhew
Meredith James
Dr ursula Moore
Helen Sutherland
Robert Muni Lofra
et al.
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach2022
Dr ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Lizzie Harris
et al.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study2022
Dr Anna Mayhew
Dr Michela Guglieri
Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation2022
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Chris Speed
Jennifer Wilkinson
et al.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial2022
Dr Michela Guglieri
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial2022
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 dystrophy2022
Dr ursula Moore
Professor Volker Straub
Dr Rita Barresi
Dr Michela Guglieri
Dr Hannah Hayhurst
et al.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy2022
Professor Volker Straub
Dr Michela Guglieri
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial2022
Dr 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 trial2022
Dr Michela Guglieri
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab2022
Emma Heslop
Catherine Turner
Anna Irvin
Professor Volker Straub
Dr Michela Guglieri
et al.
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead2021
Professor Elaine McColl
Dr Michela Guglieri
Professor Volker Straub
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy2021
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Dr Michela Guglieri
Roberto Fernandez-Torron
et al.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease2021
Dr John Bourke
Gillian Watson
Andrew Bryant
Dr Thomas Chadwick
Ruth Wood
et al.
Preventing Cardiomyopathy in DMD2021
Dr Claire Wood
Dr Kieren Hollingsworth
Dr Eric Hughes
Dr Sadha Punniyakodi
Robert Muni Lofra
et al.
Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area2021
Dr Michela Guglieri
Professor Volker Straub
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy2021
Dr Claire Wood
Dr Michela Guglieri
Professor Volker Straub
Professor Timothy Cheetham
The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy2021
Dr Michela Guglieri
Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study2020
Dr Michela Guglieri
Multi-omics identifies circulating mirna and protein biomarkers for facioscapulohumeral dystrophy2020
Dr Michela Guglieri
Professor Volker Straub
Dr Anna Sarkozy
Dr Jana Haberlova
Roberto Fernandez-Torron
et al.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020
Dr Michela Guglieri
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy2020
Dr Michela Guglieri
The CINRG Becker Natural History Study: Baseline Characteristics2020
Dr John Bourke
Dr 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 20182019
Dr Anna Mayhew
Dr Michela Guglieri
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy2019
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Professor Volker Straub
Fractures and Linear Growth in a Nationwide Cohort of Boys with Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results from the UK NorthStar Database2019
Dr Claire Wood
Professor Timothy Cheetham
Dr Kieren Hollingsworth
Dr Michela Guglieri
Dr Anna Mayhew
et al.
Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy2019
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Michela Guglieri
A multinational study on motor function in early-onset FSHD2018
Dr Michela Guglieri
Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug2018
Dr John Bourke
Gillian Watson
Dr Michela Guglieri
Chris Speed
Professor Elaine McColl
et al.
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study2018
Dr Michela Guglieri
Dr Alex Murphy
Emerita Professor Katherine Bushby
Dr John Bourke
Cardiac involvement in female carriers of duchenne or becker muscular dystrophy2017
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy2017
Dr Cecilia Jimenez Moreno
Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr 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
Dr Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015)2016
Libby Wood
Roberto Fernandez-Torron
Dr John Hudson
Dr Fiona Norwood
Dr Michela Guglieri
et al.
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry2016
Dr Andreas Roos
Daniel Cox
Dr Mojgan Reza
Dr Michela Guglieri
Professor Volker Straub
et al.
MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience2016
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2016
Dr Michelle Eagle
Dr Anna Mayhew
Dr Michela Guglieri
Professor Volker Straub
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials2016
Dr Michela Guglieri
Dr Teresinha Evangelista
Professor Volker Straub
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness2016
David Rawlings
Dr Claire Wood
Professor Timothy Cheetham
Dr Cecilia Jimenez Moreno
Dr Anna Mayhew
et al.
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Dr Claire Wood
Professor Volker Straub
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Timothy Cheetham
et al.
Short stature and pubertal delay in Duchenne muscular dystrophy2016
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Michela Guglieri
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials2016
Dr Henriette van Ruiten
Dr Chiara Marini Bettolo
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 England2016
Rebecca Crow
Dr Michela Guglieri
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
et al.
Anticipating and overcoming obstacles in setting up NIH funded academic led, international clinical trials in rare disease - learning from for DMD2015
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT)2015
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study2015
Dr Oksana Pogoryelova
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy2015
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials2015
Dr Henriette van Ruiten
Dr Michela Guglieri
Dr Michelle Eagle
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England2015
Dr Michela Guglieri
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Emerita Professor Katherine Bushby
et al.
Recruitment in the FOR-DMD study - double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)2015
Dr Claire Wood
Professor Timothy Cheetham
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr Catherine Owen
et al.
Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy2015
Dr Alex Murphy
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Dr John Bourke
The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis2015
Dr Richard Charlton
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy2015
Dr Michela Guglieri
Dr Anna Sarkozy
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
et al.
Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations2014
Dr Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping2014
Dr Amina Chaouch
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Fibronectin is a serum biomarker for Duchenne muscular dystrophy2014
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review2014
Dr Michela Guglieri
Dr Henriette van Ruiten
Professor Volker Straub
Emerita Professor Katherine Bushby
Improving the diagnosis of Duchenne muscular dystrophy2014
Dr Anna Sarkozy
David Rawlings
Dr Michela Guglieri
Dr Kate Owen
Professor Volker Straub
et al.
Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience2014
Professor Volker Straub
Dr Michelle Eagle
Dr Michela Guglieri
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study2014
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Emerita Professor Katherine Bushby
The burden of Duchenne muscular dystrophy: An international, cross-sectional study2014
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Lizzie Harris
et al.
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation2013
Dr Anna Sarkozy
Dr Debbie Hicks
Dr Steven Laval
Dr Rita Barresi
Dr Michela Guglieri
et al.
Clinical and molecular analysis of a large cohort of patients with anoctaminopathy2013
Dr Mattia Calissano
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy2013
Emerita Professor Helen McConachie
Professor Ann Le Couteur
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy2013
Dr Michela Guglieri
Dr Rita Barresi
Emerita Professor Katherine Bushby
Professor Volker Straub
Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy2012
Dr Michela Guglieri
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD)2011
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Professor Volker Straub
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.2011
Dr Michela Guglieri
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.2011
Dr Michela Guglieri
Dr Kieren Hollingsworth
Ewan Mercer
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Muscle histology vs MRI in Duchenne muscular dystrophy2011
Dr Mojgan Reza
Dr Michela Guglieri
Professor Hanns Lochmuller
Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines2011
Dr Michela Guglieri
Professor Elaine McColl
Dr Michelle Eagle
Dr Karen Rafferty
Emerita Professor Katherine Bushby
et al.
FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)2010
Dr Michela Guglieri
Emerita Professor Katherine Bushby
Molecular treatments in Duchenne muscular dystrophy2010
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Michela Guglieri
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion2010
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials2010
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study2009
Professor Timothy Cheetham
Professor Simon Pearce
David Rawlings
Dr Michelle Eagle
Dr Michela Guglieri
et al.
Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy2009
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Clinical follow up in a large cohort of patients affected by Myotonic Dystrophy type2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.02: Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
D.P.2.03: Clinical follow up in a large cohort of patients affected by myotonic dystrophy type 12008
Dr Michela Guglieri
Dr Michelle Eagle
Dr John Bourke
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Delayed development and learning difficulties as a predominant symptom in female carriers of Duchenne and Becker muscular dystrophy2008
Dr Michela Guglieri
Geoff Bell
Dr John Bourke
Dr Michelle Eagle
Professor Patrick Chinnery
et al.
Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 12008
Dr Michela Guglieri
Emerita Professor Katherine Bushby
How to go about diagnosing and managing the limb-girdle muscular dystrophies2008
Dr Michela Guglieri
Dr Michelle Eagle
Emerita Professor Katherine Bushby
Professor Volker Straub
Is assessment of respiratory function a good outcome measure for SMA II and III?2008
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
Limb-girdle muscular dystrophies2008
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Emerita Professor Katherine Bushby
Long term steroid use in non-ambulatory patients with Duchenne muscular dystrophy2007
Dr Michelle Eagle
Dr 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