Publication
Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
Francesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, Dalila Moualek, Mariasavina Severino, Daniel N Grba, Charlotte L Alston, Michael Champion, Ali Reza Tavasoli, Karine Lascelles, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Sahand Tehrani Fateh, Mohammad Kordi-Tamandani, Ali Khajeh, Saeedeh Yaghoubi, Natalia Dominik, Meisam Babaei, Mohsen Javadzadeh, Jamileh Rezazadeh Varaghchi, Mohammad Miryounesi, Ehsan Ghayoor Karimiani, Meriem Tazir, Lamia Ali Pacha, Kailash P Bhatia, Robert W Taylor, Henry Houlden, Reza Maroofian
Brain Communications, January 2025, Oxford University Press (OUP)
DOI: 10.1093/braincomms/fcaf369