Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYearFull text
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
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G2015
Dr Jana Haberlova
Dr Rita Barresi
Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations - A case report of affected father and his son2015
Dr Anna Sarkozy
Dr Rita Barresi
Dr Marta Bertoli
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies2015
Amy Vincent
Dr Mariana Rocha
Dr Karolina Rygiel
Dr John Grady
Georgia Campbell
et al.
Mitochondrial dysfunction: A key player in myofibrillar myopathy?2015
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2015
Dr Rita Barresi
Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy2015
Dr Richard Charlton
Dr Michela Guglieri
Professor Katherine Bushby
Professor Volker Straub
Dr Rita Barresi
et al.
The importance of dosage analysis in dysferlinopathy2015
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