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Browsing publications by Dr Katherine Johnson

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020
Dr Katherine Johnson
Dr Ana Topf
Rachel Thompson
Professor Hanns Lochmuller
Professor Volker Straub
et al.		Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Phillips
Dr Marta Bertoli
et al.		Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy2019
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
Dr Marta Bertoli
Lauren Phillips
Dr James Miller
et al.		Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2019
Dr Katherine Johnson
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia2019
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
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