ArticleBrain communications2025
Biallelic
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Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
–field-weighted citation impact
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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.
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Who cites it
5 citing papers in PubMed.
- [Overexpressing NDUFA13 and CRIP1 improves B cell injury and lung Lesions in COPD mouse models].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2026Article
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Article
- Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum.Brain communications · 2025Article
- BiallelicBrain communications · 2025Article
Corrections and comments
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Authors and funding
43 authors.
Rauan KaiyrzhanovDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0003-1640-4010
Kyle ThompsonMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0003-4900-9877
Askhat MukushevDepartment of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215-5400, USA.ORCID 0000-0002-8588-4268
Akbota ZharylkassynThe Institute of Childhood Neurology, Almaty 050000, Kazakhstan.
Chitra PrasadDivision of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.
Ehsan Ghayoor KarimianiDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Javeria Raza AlviDepartment of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
Dmitriy NiyazovDepartment of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Ahmad AlahmadMolecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.
Meisam BabaeiDepartment of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 9413813965, Iran.
Homa TajsharghiSchool of Health Sciences, Division of Biomedicine, University of Skovde, Skovde 541 28, Sweden.
Buthaina AlbashKuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.
Ahmad AlaqeelKuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.
Majida CharifGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.
Narges HashemiDepartment of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.
Morteza HeidariMyelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran.
Seyed Mehdi KalantarAbortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.
Guy LenaersAngers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers 49035, France.
Mohammad Yahya Vahidi MehrjardiDiabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.
Varunvenkat M SrinivasanDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.
Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.ORCID 0000-0001-7244-0492
Seyed Hamidreza MirabutalebiAbortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.
Deanna Alexis CarereGeneDx Inc., Gaithersburg, MD 20877, USA.
Mojtaba MovahediniaChildren Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Robert McFarlandMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Mohamed S Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Rasha M ElhossiniClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
Shahryar AlaviDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Melanie NapierGeneDx Inc., Gaithersburg, MD 20877, USA.
Amaya Belanger-QuintanaServicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid 28034, Spain.
Asuri N PrasadDivision of Pediatric Neurology, Department of Pediatrics, Western University, London, ON, Canada N6A 5W9.
Jessica JakobczykDivision of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.
Agathe RoubertieDepartment of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier 34091, France.
Tony RuparDepartment of Pediatrics, University of Western Ontario, London, ON, Canada N6A5W9.
Tipu SultanDepartment of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
Mehran Beiraghi ToosiDepartment of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.
Leonid SazanovInstitute of Science and Technology Austria, Klosterneuburg A-3400, Austria.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.ORCID 0000-0003-4730-5322
Henry HouldenDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Robert W TaylorMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Reza MaroofianDepartment of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.ORCID 0000-0001-6763-1542
Funding
Wellcome Trust
Abstract
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13
Indexed as
complex I deficiencyLeigh syndromemitochondrial disordersNDUFA13neurodevelopmental disorder
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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.