H. Spelbrink

The V368i mutation in Twinkle does not segregate with adPEO

V. Tiranti, M. Zeviani, J. Arenas, 2003, Annals of neurology.

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia

V. Tiranti, M. Zeviani, E. Lamantea, 2002, Annals of neurology.

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

A. Hoischen, H. Venselaar, R. Wevers, 2020, Journal of inherited metabolic disease.