Browsing publications by Dr Chiara Marini Bettolo

Newcastle AuthorsTitleYearFull text
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
Dr Oksana Pogoryelova
Dr Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Libby Wood
Dr Isabell Cordts
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
et al.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research2017
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Hanns Lochmuller
et al.
The UK Myotonic Dystrophy Patient Registry2016
Dr Henriette van Ruiten
Dr Chiara Marini Bettolo
Dr Timothy Cheetham
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England2016