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Browsing publications by Dr Monika Olahova

Newcastle AuthorsTitleYearFull text
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 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 Monika Olahova
Professor Bobby McFarland
Professor Robert Taylor
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I2020
Jack Collier
Ruth Glasgow
Dr Fiona Robertson
Dr Angela Pyle
Dr Monika Olahova
et al.
Recent advances in understanding the molecular genetic basis of mitochondrial disease2020
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Tuomo Polvikoski
Professor Roger Whittaker
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
Professor Bobby McFarland
Professor Grainne Gorman
et al.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy2019
Dr Monika Olahova
Jack Collier
Dr Noel Edwards
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
Dr Monika Olahova
Dr Nichola Lax
Dr Fiona Robertson
Dr Steven Hardy
Professor Bobby McFarland
et al.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect2018
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