Flora Barghuti

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

H. Mandel, S. Korman, Ann Saada, 2010, Journal of Medical Genetics.

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Rutger O. Vogel, M. Huynen, H. Venselaar, 2009, American journal of human genetics.

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

J. Gomori, Ann Saada, S. Edvardson, 2008, Molecular genetics and metabolism.