Browsing publications by Dr Anna Sarkozy

Newcastle AuthorsTitleYearFull text
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
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
Dr Timothy Walls
Dr Anna Sarkozy
Dr Marta Bertoli
Dr Andrew Schaefer
Professor Katherine Bushby
et al.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies2015
Professor Volker Straub
Professor Katherine Bushby
Dr Anna Sarkozy
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease2015
Dr Michela Guglieri
Dr Anna Sarkozy
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy2014
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy2014
Dr Anna Sarkozy
David Rawlings
Dr Michela Guglieri
Dr Kate Owen
Professor Volker Straub
et al.
Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience2014
Dr Rita Barresi
Dr Anna Sarkozy
Dr Gerald Pfeffer
Dr Teresinha Evangelista
Professor Patrick Chinnery
et al.
Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles2014
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