Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Saved in:
| Title: | Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency. |
|---|---|
| Authors: | Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Taylor LS; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom., Sedighzadeh S; Department of Biological Science, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Dr Shahrooei Laboratory, Tehran 1476693993, Iran., Moualek D; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy., Grba DN; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, United Kingdom., Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom., Champion M; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, United Kingdom., Tavasoli AR; Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1419733151, Iran., Lascelles K; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London SE1 7EH, United Kingdom., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India., Fateh ST; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran 1416634793, Iran., Kordi-Tamandani M; Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan 9816745785, Iran., Khajeh A; Children and Adolescent Health Research Center, School of Medicine, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran., Yaghoubi S; Department of Pediatrics, School of Medicine, Children and Adolescents Health Research Center, Research Institute of Cellular and Molecular Science in Infectious Diseases, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom., Babaei M; Department of Pediatrics, North Khorasan University of Medical Science, Bojnourd 9417694735, Iran., Javadzadeh M; Department of Pediatric Neurology, Shahid Beheshti University of Medical Sciences, Tehran 1983969367, Iran., Varaghchi JR; Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand 9719866879, Iran., Miryounesi M; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran 1985717413, Iran.; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran., Ghayoor Karimiani E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom., Tazir M; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria., Ali Pacha L; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom. |
| Source: | Brain communications [Brain Commun] 2025 Sep 23; Vol. 7 (5), pp. fcaf369. Date of Electronic Publication: 2025 Sep 23 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 2632-1297 |
|---|---|
| DOI: | 10.1093/braincomms/fcaf369 |
