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Browsing publications by Dr Anna Sarkozy

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Dr Anna Sarkozy
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy2025
Professor Michela Guglieri
Dr Anna Sarkozy
Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade2025
Dr William Macken
Dr Mahmoud Fassad
Dr Fei Gao
Krutik Patel
Dr Ana Topf
et al.		Neuromuscular disease genetics in under-represented populations: increasing data diversity2023
Professor Michela Guglieri
Professor Volker Straub
Dr Anna Sarkozy
Dr Jana Haberlova
Professor Giorgio Tasca
et al.		New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020
Dr Anna Sarkozy
Dr Marta Bertoli
Professor Volker Straub
Emerita 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 Claire Wood
Emerita Professor Katherine Bushby
Professor Volker Straub
David Rawlings
Dr Anna Sarkozy
et al.		Bisphosphonate use in Duchenne Muscular Dystrophy - why, when to start and when to stop?2016
Dr Anna Sarkozy
Professor Hanns Lochmuller
Clinical features of the myasthenic syndrome arising from mutations in GMPPB2016
David Rawlings
Dr Claire Wood
Professor Timothy Cheetham
Dr Cecilia Jimenez Moreno
Dr Anna Mayhew
et al.		Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy2016
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
Emerita 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
Emerita 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
Emerita Professor Katherine Bushby
et al.		Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies2015
Professor Volker Straub
Emerita Professor Katherine Bushby
Dr Anna Sarkozy
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease2015
Professor Michela Guglieri
Dr Anna Sarkozy
Dr Rita Barresi
Professor Hanns Lochmuller
Emerita 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
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