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Browsing publications by Roberto Fernandez-Torron

Newcastle AuthorsTitleYearFull text
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 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
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