ArticleAnnals of clinical and translational neurology2019
Leigh syndrome caused by mutations in
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.1field-weighted citation impact, top 23% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- N-terminal formylmethionine as a degron and a specific signal in proteostasis and stress adaptation.Experimental & molecular medicine · 2026Review
- Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Science advances · 2026Article
- Mechanisms of human mitochondrial leaderless mRNA translation initiation.Nature communications · 2026Article
- Methionine Improves Boar Sperm Quality by Promoting Mitochondrial Translation during Liquid Storage.Animals : an open access journal from MDPI · 2024Article
- Advances in brain epitranscriptomics research and translational opportunities.Molecular psychiatry · 2024Review
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- Reply to Letter: "Movement disorders clinical practice · 2023Article
- Mitochondrial Methionyl-tRNA Formyltransferase Deficiency Alleviates Metaflammation by Modulating Mitochondrial Activity in Mice.International journal of molecular sciences · 2023Article
- Article
- Nonprogressive Mobile Dystonia inMovement disorders clinical practice · 2023Article
- Improved methods for RNAseq-based alternative splicing analysis.Scientific reports · 2021Article
- Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.Frontiers in cell and developmental biology · 2021Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.Molecular genetics and metabolism reports · 2020Article
- Erratum: Leigh syndrome caused by mutations inAnnals of clinical and translational neurology · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
29 authors at 8 institutions in 5 countries.
Hannah HayhurstWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Irenaeus F M de CooDepartment of Neurology Erasmus Medical Centre Rotterdam Netherlands.ORCID 0000-0003-0533-7422
Dorota Piekutowska-AbramczukDepartment of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.ORCID 0000-0002-9786-3704
Charlotte L AlstonWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Sunil SharmaWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Kyle ThompsonWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Rocio RiusVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.ORCID 0000-0002-9871-3126
Langping HeWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Sila HoptonWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Rafal PloskiDepartment of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
Elzbieta CiaraDepartment of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.ORCID 0000-0002-1065-7968
Nicole J LakeVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.ORCID 0000-0003-4103-6387
Alison G ComptonVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.ORCID 0000-0002-2725-7055
Martin B DelatyckiVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
Aad VerripsDepartment of Neurology Canisius Wilhelmina Hospital Nijmegen The Netherlands.ORCID 0000-0003-2163-1891
Penelope E BonnenDepartment of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
Simon A JonesManchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.
Andrew A MorrisManchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.ORCID 0000-0002-7854-4396
David ShakespeareNeuro-Rehabilitation Unit Royal Preston Hospital Preston United Kingdom.
John ChristodoulouVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.ORCID 0000-0002-8431-0641
Dorota Wesol-KucharskaDepartment of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.
Dariusz RokickiDepartment of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.ORCID 0000-0002-9736-2838
Hubert J M SmeetsDepartment of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.ORCID 0000-0003-3859-8522
Ewa PronickaDepartment of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.ORCID 0000-0002-5705-4814
David R ThorburnVictorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.ORCID 0000-0002-7725-9470
Grainne S GormanWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Robert McFarlandWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
Robert W TaylorWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.ORCID 0000-0002-7768-8873
Yi Shiau NgWellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.ORCID 0000-0002-7591-2034
Wellcome Centre for Mitochondrial Research · GBChildren's Memorial Health Institute · PLThe University of Melbourne · AUMaastricht University · NLManchester Academic Health Science Centre · GBBaylor College of Medicine · USCanisius-Wilhelmina Ziekenhuis · NLRoyal Preston Hospital · GB
Funding
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1MBiotechnology and Biological Sciences Research CouncilMedical Research Council G0800674Medical Research Council L016354Medical Research Council MR/K000608/1NINDS NIH HHS R01 NS083726Wellcome Trust
Abstract
Objectives: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis Methods: Retrospective cohort study combining new cases and previously published cases. Results: Thirty-eight patients with pathogenic variants in Interpretation: Patients that harbour pathogenic variants in
Indexed as
AdolescentBiopsyChildChild, PreschoolCohort StudiesFemaleFibroblastsGenomic Structural VariationHumansHydroxymethyl and Formyl TransferasesInfantInfant, NewbornLeigh DiseaseMaleMitochondriaMitochondrial DiseasesHydroxymethyl and Formyl Transferasesmethionyl-tRNA formyltransferaseMitochondrial Proteins
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.