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Browsing publications by Roberto Fernandez-Torron

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Roberto Fernandez-Torron
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 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
Dr 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