Dr Monika Olahova
Professor Robert Taylor
| Mitochondrial signalling and homeostasis: from cell biology to neurological disease | 2023 |
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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 |
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Dr Monika Olahova
Professor Robert Taylor
| A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families | 2022 |
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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 |
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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 |
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Jack Collier
Dr Monika Olahova
Professor Robert Taylor
| ATG7 safeguards human neural integrity | 2021 |
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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 |
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Dr Jack Collier
Dr Monika Olahova
Professor Robert Taylor
| Emerging roles of ATG7 in human health and disease | 2021 |
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Yasmin Tang
Dr Angela Pyle
Professor Robert Taylor
Dr Monika Olahova
| Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing | 2021 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Dr Elizabeth Veal
Dr Monika Olahova
| Translating a Low-Sugar Diet into a Longer Life by Maintaining Thioredoxin Peroxidase Activity of a Peroxiredoxin | 2011 |
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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 |
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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 |
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