Joanna Poulton
University of Oxford
H-index: 70
Europe-United Kingdom
Top articles of Joanna Poulton
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability | EMBO Molecular Medicine | Direnis Erdinc Alejandro Rodríguez‐Luis Mahmoud R Fassad Sarah Mackenzie Christopher M Watson | 2023/5/8 |
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome | Frontiers in Cell and Developmental Biology | Eszter Dombi Tony Marinaki Paolo Spingardi Val Millar Nastasia Hadjichristou | 2024/4/2 |
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis | Heliyon | Calum Harvey Marcel Weinreich James AK Lee Allan C Shaw Laura Ferraiuolo | 2024/2/15 |
The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases | Journal of Lasers in Medical Sciences | Richard Baskerville Nykle Krijgsveld Patrick Esser Glen Jeffery Joanna Poulton | 2023 |
Mitochondrial function determines severity but not risk of amyotrophic lateral sclerosis | bioRxiv | Calum Harvey Marcel Weinreich Sai Zhang Paul J Hop Ramona AJ Zwamborn | 2022/6/1 |
Forecasting stroke-like episodes and outcomes in mitochondrial disease | Brain | Yi Shiau Ng Nichola Z Lax Alasdair P Blain Daniel Erskine Mark R Baker | 2022/2/1 |
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy | The Journal of Clinical Investigation | Mario K Shammas Xiaoping Huang Beverly P Wu Evelyn Fessler Insung Y Song | 2022/7/15 |
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease | Human Molecular Genetics | Florian A Rosenberger Jia Xin Tang Kate Sergeant Marco F Moedas Charlotte M Zierz | 2022/6/15 |
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 | Daniel J Klionsky Amal Kamal Abdel-Aziz Sara Abdelfatah Mahmoud Abdellatif Asghar Abdoli | 2021/1/2 | |
Acetyl-leucine slows disease progression in lysosomal storage disorders | Brain Communications | Ecem Kaya David A Smith Claire Smith Lauren Morris Tatiana Bremova-Ertl | 2021 |
The role of mitophagy during oocyte aging in human, mouse, and Drosophila: implications for oocyte quality and mitochondrial disease | Rachel T Cox Joanna Poulton Suzannah A Williams | 2021/11/1 | |
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy | Fertility and Sterility | Katharina Spath Dhruti Babariya Michalis Konstantinidis Jo Lowndes Tim Child | 2021/6/1 |
Entrainment of fish eggs and larvae at an operating nuclear generating station using improved methodology | Lake and Reservoir Management | Paul H Patrick Marilena Di Giuseppe Helen Manolopoulos Mo-Ki Tai J Scott Poulton | 2021/5/25 |
Detection of pathogenic splicing events from RNA-sequencing data using dasper | BioRxiv | David Zhang Regina H Reynolds Sonia Garcia-Ruiz Emil K Gustavsson Sid Sethi | 2021/3/30 |
Loss of CHCHD2 and CHCHD10 Activates Oma1 Peptidase to Disrupt Mitochondrial Cristae Phenocopying Patient Mutations | Human Molecular Genetics | Yi-Ting Liu Xiaoping Huang Diana Nguyen Mario K Shammas Beverly P Wu | 2020/5/1 |
Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C | Life Science Alliance | Alexandria Colaco Maria E Fernandez-Suarez Dawn Shepherd Lihi Gal Chen Bibi | 2020/7/1 |
Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report | Seizure-European Journal of Epilepsy | Michael CH Li Mkael Symmonds Pieter M Pretorius Fintan Sheerin Kannan Nithi | 2020/3/1 |
Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy | Journal of Neuro-Ophthalmology | Claudia B Catarino Bettina von Livonius Claudia Priglinger Rudrani Banik Selma Matloob | 2020/12/1 |
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency | The EMBO journal | Denisa Hathazi Helen Griffin Matthew J Jennings Michele Giunta Christopher Powell | 2020/12/1 |
