Publications by Dr Veronika Boczonadi - ePrints

Browsing publications by Dr Veronika Boczonadi.

Newcastle Authors	Title	Year
Dr Veronika Boczonadi Emeritus Professor Clarke Slater	Confocal endomicroscopy of neuromuscular junctions stained with physiologically inert protein fragments of tetanus toxin	2021
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 deficiency	2020
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 syndrome	2019
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 myopathies	2018
Dr Veronika Boczonadi Giulia Ricci Professor Rita Horvath	Mitochondrial DNA transcription and translation: clinical syndromes	2018
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 disease	2018
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 neurons	2018
Dr Veronika Boczonadi Matt Jennings Professor Rita Horvath	The role of tRNA synthetases in neurological and neuromuscular disorders	2018
Dr Boglárka Bánsági Dr Helen Griffin Professor Roger Whittaker Dr Teresinha Evangelista Dr James Miller et al.	Genetic heterogeneity of motor neuropathies	2017
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 neuropathy	2016
Dr Veronika Boczonadi Professor Rita Horvath	Amyloid-beta in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing	2016
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 reperfusion	2016
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 Deficiencies	2016
Dr Veronika Boczonadi	Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins	2016
Maria Lane Dr Veronika Boczonadi Dr Aurora Gomez Duran Professor Rita Horvath	Mitochondrial dysfunction in liver failure requiring transplantation	2016
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 neurons	2016
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 neurons	2016
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 Deficiency	2016
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 deficiencies	2016
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 disease	2015
Dr Veronika Boczonadi Dr Boglarka Bansagi Professor Rita Horvath	Reversible infantile mitochondrial diseases	2015
Dr Veronika Boczonadi Dr Angela Pyle Dr Boglarka Bansagi Marie Appleton Professor Hanns Lochmuller et al.	ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency	2014
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 hypoplasia	2014
Dr Veronika Boczonadi Professor Rita Horvath	Mitochondria: Impaired mitochondrial translation in human disease	2014
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 myocardium	2014
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 Neuropathy	2014
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 deficiency	2013
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 MTFMT	2013
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 deficiency	2013
Dr Veronika Boczonadi	Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes	2012
Professor Deborah Henderson Dr Veronika Boczonadi Dr Bill Chaudhry	Conditional deletion of Scrib gene in the developing myocardium leads to congenital heart defects	2012
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 deficiency	2012
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 morphogenesis	2009
Dr Veronika Boczonadi Professor Deborah Henderson Dr Bill Chaudhry	Cell traction force microscopy in cardiac morphogenesis	2009
Dr Veronika Boczonadi Dr Arto Maatta	Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in Keratin 8 down-regulated epithelial sheets	2006