Concepedia
Statistics
Publications
6
Citations
152
H-Index
Active since
2017
Affiliations
University College London(Current)
National Hospital for Neurology and Neurosurgery
Great Ormond Street Hospital
Olivia V. Poole is an author at University College London.
Publications per year
2017–2021
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
Enrico Bugiardini, Alice Mitchell, Ilaria Dalla Rosa et al. · Human Molecular Genetics · 2019 · 44 citations · Full text
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutations
Enrico Bugiardini, Emanuela Bottani, Silvia Marchet et al. · Neurology Genetics · 2020 · 31 citations · Full text
Clinicopathologic and molecular spectrum of <i>RNASEH1</i> -related mitochondrial disease
Enrico Bugiardini, Olivia V. Poole, Andreea Manole et al. · Neurology Genetics · 2017 · 24 citations · Full text
Mitochondrial <scp>D</scp><scp>NA</scp> Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
Olivia V. Poole, Chiara Pizzamiglio, David Murphy et al. · Annals of Neurology · 2021 · 23 citations · Full text
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases
Enrico Bugiardini, Simon Pope, René G. Feichtinger et al. · Journal of Clinical Medicine · 2019 · 18 citations · Full text
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