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Browsing publications by Dr Veronika Boczonadi.

Newcastle AuthorsTitleYearFull text
Dr Joseph Collin
Dr Agata Rozanska
Dr Veronika Boczonadi
Marina Moya Molina
Adrienne Unsworth
et al.
Deciphering the spatio-temporal transcriptional and chromatin accessibility of human retinal organoid development at the single cell level2024
Dr Veronika Boczonadi
Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons2024
Dr Rachel Queen
Moira Crosier
Dr Lorraine Eley
Dr Janet Kerwin
Jasmin Turner
et al.
Spatial transcriptomics reveals novel genes during the remodelling of the embryonic human arterial valves2023
Dr Marzena Kurzawa-Akanbi
Dr Florence Burte
Dr Birthe Hilgen
Dr Rachel Queen
Dr Jonathan Coxhead
et al.
Retinal pigment epithelium extracellular vesicles are potent inducers of age-related macular degeneration disease phenotype in the outer retina2022
Dr Veronika Boczonadi
Emeritus Professor Clarke Slater
Confocal endomicroscopy of neuromuscular junctions stained with physiologically inert protein fragments of tetanus toxin2021
Dr Helen Griffin
Dr Michele Giunta
Benjamin Munro
Dr Wei Wei
Dr Veronika Boczonadi
et al.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency2020
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
Dr Grace McMacken
Dr Sally Spendiff
Professor Roger Whittaker
Emily O'Connor
Rachel Howarth
et al.
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome2019
Marina Bartsakoulia
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
Dr Veronika Boczonadi
et al.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies2018
Dr Veronika Boczonadi
Giulia Ricci
Professor Rita Horvath
Mitochondrial DNA transcription and translation: clinical syndromes2018
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglarka Bansagi
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease2018
Dr Veronika Boczonadi
Dr Helen Griffin
Dr Andreas Roos
Marina Bartsakoulia
Dr Boglarka Bansagi
et al.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons2018
Dr Veronika Boczonadi
Matt Jennings
Professor Rita Horvath
The role of tRNA synthetases in neurological and neuromuscular disorders2018
Dr Boglárka Bánsági
Dr Helen Griffin
Professor Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Dr Michele Giunta
Dr Aurora Gomez Duran
Dr Veronika Boczonadi
Professor Rita Horvath
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy2016
Dr Veronika Boczonadi
Professor Rita Horvath
Amyloid-beta in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing2016
Andrew Griffiths
Dr Veronika Boczonadi
Professor Rita Horvath
Dr Faryal Afridi
David Talbot
et al.
Changes in Mitochondrial electron transport chain complex expression in ischaemia and reperfusion2016
Marina Bartsakoulia
Dr Juliane Mueller
Dr Aurora Gomez Duran
Dr Patrick Yu Wai Man
Dr Veronika Boczonadi
et al.
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies2016
Dr Veronika Boczonadi
Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins2016
Maria Lane
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Professor Rita Horvath
Mitochondrial dysfunction in liver failure requiring transplantation2016
Dr Veronika Boczonadi
Marina Bartsakoulia
Dr Boglarka Bansagi
Dr Francesco Bruni
Dr Juliane Mueller
et al.
Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons2016
Dr Veronika Boczonadi
Marina Bartsakoulia
Dr Boglarka Bansagi
Dr Francesco Bruni
Dr Juliane Mueller
et al.
Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons2016
Dr Veronika Boczonadi
Dr Angela Pyle
Professor Patrick Chinnery
Professor Tiina Tyni
Professor Rita Horvath
et al.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency2016
Marina Bartsakoulia
Dr Juliane Mueller
Dr Aurora Gomez Duran
Dr Veronika Boczonadi
Professor Rita Horvath
et al.
Supplementation with L-cysteine improves mitochondrial protein synthesis in a subgroup of mitochondrial translation deficiencies2016
Dr Veronika Boczonadi
Michele Giunta
Maria Lane
Professor Rita Horvath
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease2015
Dr Veronika Boczonadi
Dr Boglarka Bansagi
Professor Rita Horvath
Reversible infantile mitochondrial diseases2015
Dr Veronika Boczonadi
Dr Angela Pyle
Dr Boglarka Bansagi
Marie Appleton
Professor Hanns Lochmuller
et al.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency2014
Dr Veronika Boczonadi
Dr Juliane Mueller
Dr Angela Pyle
Dr Jennifer Munkley
Michele Giunta
et al.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia2014
Dr Veronika Boczonadi
Professor Rita Horvath
Mitochondria: Impaired mitochondrial translation in human disease2014
Dr Veronika Boczonadi
Dr Iain Keenan
Dr Simon Ramsbottom
Charlotte Donald-Wilson
Dr Bill Chaudhry
et al.
Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium2014
Professor Rita Horvath
Professor Roger Whittaker
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Veronika Boczonadi
et al.
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy2014
Dr Veronika Boczonadi
Dr Paul Smith
Dr Angela Pyle
Dr Aurora Gomez Duran
Professor Patrick Chinnery
et al.
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency2013
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Veronika Boczonadi
Dr Paul Smith
Professor Patrick Chinnery
Professor Rita Horvath
Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency2013
Dr Veronika Boczonadi
Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes2012
Professor Deborah Henderson
Dr Veronika Boczonadi
Dr Bill Chaudhry
Conditional deletion of Scrib gene in the developing myocardium leads to congenital heart defects2012
Dr Veronika Boczonadi
Dr Paul Smith
Kamil Sitarz
Professor Zofia Chrzanowska-Lightowlers
Professor Robert Lightowlers
et al.
Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency2012
Dr Helen Phillips
Dr Veronika Boczonadi
Dr Bill Chaudhry
Professor Deborah Henderson
03-P015: Rho kinase is required for cohesive behaviour of neural crest cells during outflow tract morphogenesis2009
Dr Veronika Boczonadi
Professor Deborah Henderson
Dr Bill Chaudhry
Cell traction force microscopy in cardiac morphogenesis2009
Dr Veronika Boczonadi
Dr Arto Maatta
Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in Keratin 8 down-regulated epithelial sheets2006