Browsing publications by Dr Anna Sarkozy

Newcastle AuthorsTitleYear
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 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 myopathy2013
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Anna Sarkozy
Skeletal muscle involvement in cardiomyopathies2013
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Professor Katherine Bushby
et al.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)2012
Professor Volker Straub
Professor Hanns Lochmuller
Dr Anna Sarkozy
Dr Fiona Norwood
Professor Katherine Bushby
et al.
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies2012
Dr Amina Chaouch
Dr Anna Sarkozy
Professor Hanns Lochmuller
Professor Katherine Bushby
FSHD extended deletion analysis using the D4Z4 1kb probe - a case study2012
Dr Anna Sarkozy
Dr Debbie Hicks
Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Muscle MRI findings in limb girdle muscular dystrophy type 2L2012
Dr Debbie Hicks
Dr Anna Sarkozy
Professor Hanns Lochmuller
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis2012
Dr Anna Sarkozy
Dr Tuomo Polvikoski
Dr Michelle Eagle
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene2012
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