Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYearFull text
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
Amy Vincent
Hannah Rosa
Charlotte Alston
Dr John Grady
Dr Karolina Rygiel
et al.
Dysferlin mutations and mitochondrial dysfunction2016
Dr Rita Barresi
Focal, macrophage rich myopathy as a manifestation of calpain-3 mutations: are there modifiers of histological phenotype?2016
Amy Vincent
Dr John Grady
Dr Mariana Rocha
Charlotte Alston
Dr Karolina Rygiel
et al.
Mitochondrial dysfunction in myofibrillar myopathy2016
Dr Rita Barresi
Professor Katherine Bushby
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility2016
Dr Rita Barresi
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients2015
Dr Lizzie Harris
Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Dr Rita Barresi
et al.
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome2015
Dr Rita Barresi
Caveolinopathy presenting with muscle pain and rhabdomyolysis2015
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