Publications by Roberto Fernandez-Torron - ePrints

Browsing publications by Roberto Fernandez-Torron.

Newcastle Authors	Title	Year
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 study	2022
Roberto Fernandez-Torron Dr ursula Moore Dr German Moris Dr Nuria Muelas Gomez	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis	2022
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 dysferlinopathy	2022
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 disease	2021
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 Dysferlinopathy	2020
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 sarcoglycanopathy	2020
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 weakness	2020
Roberto Fernandez-Torron Professor Jordi Diaz Manera	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 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 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 Professor 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