Browsing publications by Dr Rita Barresi

Newcastle AuthorsTitleYear
Dr Michela Guglieri
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping2014
Dr Richard Charlton
Professor Katherine Bushby
Dr Rita Barresi
The National Diagnostic and Advisory Service for Limb-Girdle Muscular Dystrophies in Newcastle2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Dr Richard Charlton
Professor Volker Straub
Professor Hanns Lochmuller
Professor Katherine Bushby
Dr Rita Barresi
et al.
A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance2012
Dr Rita Barresi
Dr Liesbeth De Waele
Professor Katherine Bushby
Autosomal recessive desminopathy with desmin-null mutations presenting in childhood2012
Dr Liesbeth De Waele
Professor Katherine Bushby
Dr Rita Barresi
Autosomal recessive desminopathy with desmin-null mutations presenting in childhood2012
alasdair Wood
Pia Cumine
Dr Steven Laval
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish2012
Dr Michela Guglieri
Dr Rita Barresi
Professor Katherine Bushby
Professor Volker Straub
Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy2012
Dr Rita Barresi
Characterisation of novel ANO5 antibodies2012
Dr Alasdair Wood
Dr Juliane Mueller
Dr Steven Laval
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
Investigating basement membranes in FKRP and fukutin deficient zebrafish2012
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