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Browsing publications by Roberto Fernandez-Torron.

Newcastle AuthorsTitleYearFull text
Dr ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Lizzie Harris
et al.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study2022
Roberto Fernandez-Torron
Dr ursula Moore
Dr German Moris
Dr Nuria Muelas Gomez
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis2022
Dr Fiona Smith
Dr Ian Wilson
Roberto Fernandez-Torron
Meredith James
Dr Ursula Moore
et al.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy2022
Dr Ursula Moore
Meredith James
Dr Anna Mayhew
Professor Michela Guglieri
Roberto Fernandez-Torron
et al.
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease2021
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Professor Andrew Blamire
et al.
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy2020
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 sarcoglycanopathy2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Charlotte Phillips Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Roberto Fernandez-Torron
Professor Jordi Diaz Manera
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease2020
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a 1 year cohort study2019
Dr German Moris
Libby Wood
Roberto Fernandez-Torron
Dr Adela Cora
Dr Fiona Norwood
et al.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness2018
Professor Jordi Diaz Manera
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Fiona Smith
et al.
Muscle MRI in dysferlinopathy patients: Pattern recognition and implications for clinical trials2018
Dr Ursula Moore
Roberto Fernandez-Torron
Meredith James
Dr Anna Mayhew
Dr Michelle Eagle
et al.
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study2018
Roberto Fernandez-Torron
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain2017
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 registry2016
Professor Jordi Diaz Manera
Aida Alejaldre
Dr Nuria Muelas Gomez
Roberto Fernandez-Torron
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes2016