Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Katherine Johnson.

Newcastle AuthorsTitleYearFull text
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 relevance2022
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 Charlotte Phillips Phillips
Dr Marta Bertoli
et al.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Katherine Johnson
Professor Volker Straub
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification2020
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 fibrosis2020
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 Charlotte Phillips 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
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 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 weakness2018
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 Charlotte Phillips 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 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 population2017
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 weakness2017
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
Dr Katherine Johnson
Dr Louise Reynard
Professor John Loughlin
Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs93505912015
Dr Katherine Johnson
Dr Louise Reynard
Professor John Loughlin
Functional analysis of the osteoarthritis susceptibility locus marked by the polymorphism rs104923672014