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Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Brain Communications(2025)10.1093/braincomms/fcaf369Source: DataRank Database

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency is a research paper published in Brain Communications (2025). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Enrichment:Funding (38 grants)OA: goldTopics (8)IDs (PubMed, PMC)Annotations (1)

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Authors (28)

Lucie S Taylor,Sahar Sedighzadeh ORCID,Dalila Moualek,Mariasavina Severino ORCID,Daniel N. Grba ORCID

Live enrichment

PubMed:41069424 PMC:PMC12507085

Translational Neuroscience Intermediate Clinical Fellowship

Grant: BRC1287/TN/FM/101410

Edmond J. Safra Movement Disorders Research Career Development Award

Grant: MJFF-023893

Parkinson's UK

Grant: G-2401

American Parkinson Disease Association

Grant: 1282403

David Pearlman Charitable Foundation

Grant: MC_UU_00015/2

David Pearlman Charitable Foundation

Grant: MC_UU_00028/1

National Institute for Health Research

Grant: PDF-2018-11-ST2-021

Wellcome Centre for Mitochondrial Research

Grant: 203105/Z/16/Z

Mitochondrial Disease Patient Cohort

Grant: G0800674

Medical Research Council

Grant: MR/W019027/1

Pleiotropic disorders of mitochondrial translation

Alzheimer's Research UK

Friedreich's Ataxia Research Alliance

Multiple System Atrophy (MSA) Trust

Cerebral Palsy Alliance

European Academy of Neurology

Multiple System Atrophy (MSA) Coalition, Parkinson's UK

National Institutes of Health (NIH) NeuroBioBank

Edmond J. Safra Fellowship in Movement Disorders

Lily Foundation

Parkinson's Foundation

Michael J. Fox Foundation

Biomedical Research Centre

UK National Institute for Health and Care Research

University College London Hospitals

Victorian Brain Bank

Wellcome Trust

Queen Square Brain Bank

The Medical Research Council (MRC) Brain Bank Network

Dolby Family fund

LifeArc

Medical Research Council

Newcastle upon Tyne Foundation Hospitals National Health Service (NHS) Trust

UK National Health Service

Fidelity Trust

National Institute for Health and Care Research

Pathological Society

Rosetrees Trust

The Guarantors of Brain

goldLicense: cc-by

publisherhttps://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcaf369/64356002/fcaf369.pdf

publisherhttps://academic.oup.com/braincomms/article-pdf/7/5/fcaf369/64356002/fcaf369.pdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12507085

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12507085/

Europe_PMChttps://europepmc.org/articles/PMC12507085

Fields of Study

0303 health sciences03 medical and health sciences

Keywords

SeizuresSpasticityLeigh SyndromeLactic AcidosisMutational HotspotReport

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

FAIR Checklist

Authors (28)

Funding (38 grants)

Open Access

Topics

Annotations (Europe PMC)