OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

(2010) Patrick Yu-Wai-Man et al.   HUMAN MOLECULAR GENETICS

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

OPA1 functions in mitochondria and dysfunctions in optic nerve

(2009) Guy Lenaers et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

(2008) M. Zeviani   BRAIN

Pilot Study of Peripheral Muscle Function in Primary Biliary Cirrhosis: Potential Implications for Fatigue Pathogenesis

(2008) Kieren G. Hollingsworth et al.   Clinical Gastroenterology and Hepatology

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN