Publications by Dr Monika Olahova - ePrints

Browsing publications by Dr Monika Olahova.

Newcastle Authors	Title	Year
Yasmin Tang Dr Angela Pyle Dr Monika Olahova Professor Robert Taylor	Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease	2024
Dr Monika Olahova Professor Robert Taylor	Mitochondrial signalling and homeostasis: from cell biology to neurological disease	2023
Dr Kyle Thompson Dr Monika Olahova Dr Langping He Dr Thomas McCorvie Professor Wyatt Yue et al.	Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54	2023
Dr Monika Olahova Professor Robert Taylor	A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families	2022
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 mechanisms	2022
Dr Monika Olahova Dr Ewen Sommerville Dr Jack Collier Professor Grainne Gorman Professor Robert Taylor et al.	POLRMT mutations impair mitochondrial transcription causing neurological disease	2021
Jack Collier Dr Monika Olahova Professor Robert Taylor	ATG7 safeguards human neural integrity	2021
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 humans	2021
Dr Jack Collier Dr Monika Olahova Professor Robert Taylor	Emerging roles of ATG7 in human health and disease	2021
Yasmin Tang Dr Angela Pyle Professor Robert Taylor Dr Monika Olahova	Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing	2021
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 features	2020
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 I	2020
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 disease	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 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 cardiomyopathy	2019
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 disease	2019
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 defect	2018
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 Disorder	2018
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 Function	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 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 Deficiencies	2017
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 aciduria	2017
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 deficiency	2017
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 phenotype	2016
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 Phenotype	2016
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 population	2015
Dr Monika Olahova Dr Elizabeth Veal	A peroxiredoxin, PRDX-2, is required for insulin secretion and Insulin/IIS-dependent regulation of stress resistance and longevity	2015
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 deficiency	2015
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 animals	2014
Dr Elizabeth Veal Dr Monika Olahova	Translating a Low-Sugar Diet into a Longer Life by Maintaining Thioredoxin Peroxidase Activity of a Peroxiredoxin	2011
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 elegans	2009
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