Browsing publications by Professor Volker Straub

Newcastle AuthorsTitleYearFull text
Dr Rita Barresi
Professor Volker Straub
Professor Hanns Lochmuller
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy2016
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy2016
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
Dr Claire Wood
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 Hannah Steele
Dr Lizzie Harris
Dr Rita Barresi
Dr John Bourke
Professor Volker Straub
et al.
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study2016
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015)2016
Elena Martoni
Professor Hanns Lochmuller
Professor Volker Straub
Professor Katherine Bushby
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy2016
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy2016
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
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