Publications by Roberto Fernandez-Torron - ePrints

Browsing publications by Roberto Fernandez-Torron

Newcastle Authors	Title	Year
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 weakness	2020
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