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

Mitochondrial changes within axons in multiple sclerosis

(2009) D. J. Mahad et al.   BRAIN

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

(2009) Marc Ferré et al.   HUMAN MUTATION

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

(2009) Margherita Milone et al.   MITOCHONDRION

Hereditary optic neuropathies share a common mitochondrial coupling defect

(2008) Arnaud Chevrollier et al.   ANNALS OF NEUROLOGY

Reversible optic neuropathy withOPA1exon 5b mutation

(2008) Karen Cornille 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

Oculopharyngeal muscular dystrophy: A polyalanine myopathy

(2008) Bernard Brais   Current Neurology and Neuroscience Reports

Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets

(2008) L. M. Cree et al.   DIABETOLOGIA

Resolving the clinical acuity categories “hand motion” and “counting fingers” using the Freiburg Visual Acuity Test (FrACT)

(2008) C. Lange et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

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

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation

(2008) M. Liguori et al.   JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

What causes mitochondrial DNA deletions in human cells?

(2008) Kim J Krishnan et al.   NATURE GENETICS

MULTIPLE SCLEROSIS-LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

(2008) C. Verny et al.   NEUROLOGY

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

(2008) J. D. Stewart et al.   NEUROLOGY

Myelin, mitochondria, and autoimmunity: What's the connection?

(2008) V. Carelli et al.   NEUROLOGY

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine

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