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Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

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Title: Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Authors: Kaiyrzhanov R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160019, Kazakhstan., Thompson K; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Mukushev A; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215-5400, USA., Zharylkassyn A; The Institute of Childhood Neurology, Almaty 050000, Kazakhstan., Prasad C; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9., Ghayoor Karimiani E; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK., Alvi JR; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Niyazov D; Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA., Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 9413813965, Iran., Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde 541 28, Sweden., Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait., Alaqeel A; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait., Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; Genetic and Immuno-Cell Therapy Team, Mohammed First University, Oujda 60000, Morocco., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran., Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran., Kalantar SM; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran., Lenaers G; Angers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers 49035, France.; Department of Neurology, University Hospital of Angers, Angers 49035, France., Vahidi Mehrjardi MY; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India., Mirabutalebi SH; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran., Carere DA; GeneDx Inc., Gaithersburg, MD 20877, USA., Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Napier M; GeneDx Inc., Gaithersburg, MD 20877, USA., Belanger-Quintana A; Servicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid 28034, Spain., Prasad AN; Division of Pediatric Neurology, Department of Pediatrics, Western University, London, ON, Canada N6A 5W9., Jakobczyk J; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9., Roubertie A; Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier 34091, France., Rupar T; Department of Pediatrics, University of Western Ontario, London, ON, Canada N6A5W9.; Departments of Biochemistry, Pathology and Laboratory Medicine, University of Western Ontario, London, ON, Canada N6A5W9., Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran., Sazanov L; Institute of Science and Technology Austria, Klosterneuburg A-3400, Austria., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Source: Brain communications [Brain Commun] 2024 Dec 17; Vol. 7 (1), pp. fcae453. Date of Electronic Publication: 2024 Dec 17 (Print Publication: 2025).
Publication Type: Journal Article; Comment
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
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Description
ISSN:2632-1297
DOI:10.1093/braincomms/fcae453