Publications by Roberto Fernandez-Torron - ePrints

Browsing publications by Roberto Fernandez-Torron

Newcastle Authors	Title	Year
Roberto Fernandez-Torron	Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease	2020
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 study	2019
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 dystrophy	2018
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 weakness	2018
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 trials	2018
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 study	2018
Roberto Fernandez-Torron	Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain	2017
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 registry	2016
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 genes	2016