Browsing publications by Dr Katherine Johnson

Newcastle AuthorsTitleYearFull text
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 dystrophy2017
Dr Katherine Johnson
Therapeutic potential of shark anti-ICOSL VNAR domains is exemplified in a murine model of autoimmune non-infectious uveitis2017
Dr Eugen-Matthias Strehle
Dr Katherine Johnson
Professor Volker Straub
Two novel mutations in the FHL1 gene extending the phenotypic spectrum2017
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 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
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings2016
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
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