Biallelic NDUFA13 Variants Lead to a Neurodevelopmental Phenotype with Gradual Neurological Impairment
Rauan Kaiyrzhanov,Kyle Thompson,Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn,Chitra Prasad,Ehsan Ghayoor Karimiani,Javeria Raza Alvi,Dmitriy Niyazov,Ahmad Alahmad,Meisam Babaei,Homa Tajsharghi,Buthaina Albash, Ahmad Alaqeel,Majida Charif,Narges Hashemi, Morteza Heidari, Seyed Mehdi Kalantar,Guy Lenaers,Mohammad Yahya Vahidi Mehrjardi,Varunvenkat M. Srinivasan,Vykuntaraju K. Gowda, Seyed Hamidreza Mirabutalebi,Deanna Alexis Carere,Mojtaba Movahedinia,David Murphy,Robert Mcfarland,Mohamed S. Abdel-Hamid,Rasha M. Elhossini,Shahryar Alavi,Melanie Napier, Amaya Belanger-Quintana,Asuri N. Prasad, Jessica Jakobczyk,Agathe Roubertie,Tony Rupar,Tipu Sultan,Mehran Beiraghi Toosi,Leonid Sazanov,Mariasavina Severino,Henry Houlden, Robert W. Taylor,Reza Maroofian BRAIN COMMUNICATIONS（2025）
关键词
complex I deficiency,mitochondrial disorders,NDUFA13,neurodevelopmental disorder,Leigh syndrome
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