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

Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration

(2010) Amy K. Reeve et al.   Annals of the New York Academy of Sciences

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

(2010) P. Yu-Wai-Man et al.   BRAIN

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

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

Training response of mitochondrial transcription factors in human skeletal muscle

(2009) J. Norrbom et al.   Acta Physiologica

The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons

(2009) Amy K. Reeve et al.   AGING CELL

Emerging roles of mitochondrial proteases in neurodegeneration

(2009) Paola Martinelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Transcriptional and post-transcriptional regulation of mitochondrial biogenesis in skeletal muscle: Effects of exercise and aging

(2009) Vladimir Ljubicic et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

OPA1 functions in mitochondria and dysfunctions in optic nerve

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

OPA1-associated disorders: Phenotypes and pathophysiology

(2009) Patrizia Amati-Bonneau et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

(2008) Amy K. Reeve et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary optic neuropathies share a common mitochondrial coupling defect

(2008) Arnaud Chevrollier et al.   ANNALS OF NEUROLOGY

Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1

(2008) Silvio Ferraris et al.   ARCHIVES OF NEUROLOGY

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

(2008) M. Zeviani   BRAIN

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

(2008) Marco Spinazzi et al.   HUMAN MOLECULAR GENETICS

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

155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands

(2007) Patrick F. Chinnery et al.   NEUROMUSCULAR DISORDERS