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Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYearFull text
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr Rita Barresi
Calpainopathy with macrophage-rich, regional inflammatory infiltrates2017
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 Rita Barresi
Diagnostic Pitfalls of an Atypical Form of Congenital Muscular Dystrophy - Partial Merosin Deficiency - Case Reports2017
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 Rita Barresi
Professor Katherine Bushby
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies2016
Dr Rita Barresi
Professor Volker Straub
Professor Hanns Lochmuller
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy2016
Dr Hannah Steele
Dr Lizzie Harris
Dr Rita Barresi
Dr John Bourke
Professor Volker Straub
et al.
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study2016
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