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Browsing publications by Dr Katherine Johnson

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure2019
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
Dr Teresinha Evangelista
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.		Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness2018
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Dr James Miller
et al.		Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2018
Sarah Moore
Dr Katherine Johnson
Dr Teresinha Evangelista
Professor Volker Straub
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation2018
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
Limb girdle muscular dystrophy due to mutations in POMT22018
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
Lauren Phillips
Dr Katherine Johnson
Dr Marta Bertoli
Professor Hanns Lochmuller
Professor Volker Straub
et al.		A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population2017
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