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2 resultsUpdated August 16, 2026
1

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Brain Communications 7(5) (2025)

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

2

Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient

Clinical Case Reports 11(5) (2023)

Forough Shabannejadian; Seyedeh Zahra Masoomizadeh; Behnaz Andashti