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Browsing publications by Dr Marta Bertoli

Newcastle AuthorsTitleYearFull text
Dr Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period2017
Dr Ana Topf
Dr Jelena Nikodinovic Glumac
Dr Marta Bertoli
Dr Katherine Johnson
Lauren Phillips
et al.
A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort2016
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al.
Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations2016
Lauren Phillips
Dr Ana Topf
Dr Katherine Johnson
Dr Marta Bertoli
Professor Volker Straub
et al.
Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing2016
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al.
The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin2016
Professor Volker Straub
Dr Marta Bertoli
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?2016
Dr Marta Bertoli
Dr Ana Topf
Dr Lizzie Harris
Dr Steven Laval
Dr Anna Sarkozy
et al.
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism2015
Dr Anna Sarkozy
Dr Marta Bertoli
Dr John Hudson
Professor Katherine Bushby
Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period2015
Professor Volker Straub
Olav Veldhuizen
Dr Marta Bertoli
Dr Michelle Eagle
Consortium for Products Across Europe in Duchenne Muscular Dystrophy (SCOPE-DMD)2015
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
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