Publications by Dr Katherine Johnson - ePrints

Browsing publications by Dr Katherine Johnson.

Newcastle Authors	Title	Year
Dr Katherine Johnson Dr Peter Leary Dr Olivier Govaere Dr Matthew Barter Sarah Charlton et al.	Increased serum miR-193a-5p during non-alcoholic fatty liver disease progression: Diagnostic and mechanistic relevance	2022
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 pattern	2020
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 FLNC	2020
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 Myopathies	2020
Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al.	Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	2020
Dr Katherine Johnson Professor Volker Straub	The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification	2020
Dr Olivier Govaere Dr Simon Cockell Dr Dina Tiniakos Dr Rachel Queen Dr Massimo Younes et al.	Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis	2020
Dr Katherine Johnson Dr Ana Topf Professor Jordi Diaz Manera Professor Volker Straub	POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy	2019
Dr Katherine Johnson Dr Ana Topf Professor Volker Straub	ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure	2019
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 protein	2019
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al.	Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population	2019
Dr Katherine Johnson	Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia	2019
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 domain	2019
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 pair	2018
Dr Katherine Johnson Dr Marta Bertoli Lauren Charlotte Phillips 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 weakness	2018
Sarah Moore Dr Katherine Johnson Dr Teresinha Evangelista Professor Volker Straub	FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation	2018
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub	Limb girdle muscular dystrophy due to mutations in POMT2	2018
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 dystrophy	2017
Lauren Charlotte Phillips 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 population	2017
Dr Katherine Johnson Lauren Charlotte Phillips Phillips Dr Ana Topf Professor Volker Straub	Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]	2017
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Phillips Professor Volker Straub et al.	Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness	2017
Dr Katherine Johnson	Therapeutic potential of shark anti-ICOSL VNAR domains is exemplified in a murine model of autoimmune non-infectious uveitis	2017
Dr Eugen-Matthias Strehle Dr Katherine Johnson Professor Volker Straub	Two novel mutations in the FHL1 gene extending the phenotypic spectrum	2017
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 dystrophy	2016
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 cohort	2016
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 mutations	2016
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub	Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy	2016
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 sequencing	2016
Dr Ana Topf Dr Katherine Johnson Professor Volker Straub	Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings	2016
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 origin	2016
Dr Katherine Johnson Dr Louise Reynard Professor John Loughlin	Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591	2015
Dr Katherine Johnson Dr Louise Reynard Professor John Loughlin	Functional analysis of the osteoarthritis susceptibility locus marked by the polymorphism rs10492367	2014