Efstathia Chronopoulou

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Publications

Citations

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Active since

2018

Affiliations

University Hospitals Bristol NHS Foundation Trust(Current)

University College London

Medical Research Council

National Hospital for Neurology and Neurosurgery

Dokuz Eylül University

Efstathia Chronopoulou is an author at University Hospitals Bristol NHS Foundation Trust specializing in lactic acidosis, melas syndrome, and genetic disorders.

Publications per year

2018–2024

Publications

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Yi Shiau Ng, Nichola Z. Lax, Paul Maddison et al. · EBioMedicine · 2018 · 68 citations · Full text

Life Sciences, Genetics, Neurology +17

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Berna Şeker Yılmaz, Julien Baruteau, Nur Arslan et al. · Life · 2022 · 14 citations · Full text

Life Sciences, Pediatrics, Neonatology +16

Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara et al. · Brain · 2024 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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