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Browsing publications by Dr Monika Olahova.

Newcastle AuthorsTitleYearFull text
Dr Jack Collier
Dr Oliver Russell
Dr Charlotte Alston
Professor Bobby McFarland
Professor Robert Taylor
et al.
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms2022
Dr Monika Olahova
Dr Ewen Sommerville
Dr Jack Collier
Professor Grainne Gorman
Professor Robert Taylor
et al.
POLRMT mutations impair mitochondrial transcription causing neurological disease2021
Jack Collier
Dr Monika Olahova
Professor Robert Taylor
ATG7 safeguards human neural integrity2021
Jack Collier
Dr Monika Olahova
Dr Nuria Martinez Lopez
Dr Tuomo Polvikoski
Dr Andrew Schaefer
et al.
Developmental consequences of defective Atg7-mediated autophagy in humans2021
Dr Jack Collier
Dr Monika Olahova
Professor Robert Taylor
Emerging roles of ATG7 in human health and disease2021
Yasmin Tang
Dr Angela Pyle
Professor Robert Taylor
Dr Monika Olahova
Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing2021
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al.
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I2020
Dr Kyle Thompson
Jack Collier
Ruth Glasgow
Dr Fiona Robertson
Dr Angela Pyle
et al.
Recent advances in understanding the molecular genetic basis of mitochondrial disease2020
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 Ewen Sommerville
Dr Monika Olahova
Dr Angela Pyle
Dr Langping He
Professor Bobby McFarland
et al.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy2019
Dr Monika Olahova
Jack Collier
Dr Charlotte Alston
Dr Noel Edwards
Dr Langping He
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
Dr Kyle Thompson
Dr Monika Olahova
Dr Filippo Scialo
Dr Nichola Lax
Dr Fiona Robertson
et al.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect2018
Dr Monika Olahova
Dr Kyle Thompson
Professor Bobby McFarland
Professor Robert Taylor
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder2018
Dr Monika Olahova
Dr Charlotte Alston
Professor Robert Taylor
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function2018
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 Monika Olahova
Dr Kyle Thompson
Dr Charlotte Alston
Professor Patrick Chinnery
Professor Zofia Chrzanowska-Lightowlers
et al.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies2017
Dr Monika Olahova
Dr Kyle Thompson
Dr Steven Hardy
Maria-Eleni Anagnostou
Dr Kathryn White
et al.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria2017
Syeda Ahmed
Charlotte Alston
Sila Hopton
Dr Langping He
Gavin Falkous
et al.
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency2017
Dr Charlotte Alston
Dr Monika Olahova
Dr Steven Hardy
Dr Langping He
Professor Robert Taylor
et al.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype2016
Dr Charlotte Alston
Dr Monika Olahova
Dr John Yarham
Dr Langping He
Professor Robert Taylor
et al.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype2016
Dr Monika Olahova
Dr Steven Hardy
Dr John Yarham
William Wilson
Dr Charlotte Alston
et al.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population2015
Dr Monika Olahova
Dr Elizabeth Veal
A peroxiredoxin, PRDX-2, is required for insulin secretion and Insulin/IIS-dependent regulation of stress resistance and longevity2015
Dr Monika Olahova
Dr Charlotte Alston
Jess Houghton
Dr Langping He
Dr Andrew Morris
et al.
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency2015
Dr Monika Olahova
Emma Button
Johnathan Winter
Dr Elizabeth Veal
Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals2014
Dr Elizabeth Veal
Dr Monika Olahova
Translating a Low-Sugar Diet into a Longer Life by Maintaining Thioredoxin Peroxidase Activity of a Peroxiredoxin2011
Dr Elizabeth Veal
Dr Monika Olahova
Sarah Taylor
Dr Siavash Khazaipoul
Dr Helen Crook
et al.
Redox-sensitive peroxiredoxins play multiple roles in the oxidative stress resistance of Caenorhabditis elegans2009
Dr Monika Olahova
Sarah Taylor
Dr Siavash Khazaipoul
Professor Brian Morgan
Dr Elizabeth Veal
et al.
A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance.2008