Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +13

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

Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier et al. · Brain · 2007 · 515 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

Vanessa Davies, Andrew J. Hollins, Małgorzata Piechota et al. · Human Molecular Genetics · 2007 · 442 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Marcel V. Alavi, Stefanie Bette, Simone Schimpf et al. · Brain · 2006 · 272 citations · Full text

Medicine, Genetics, Molecular Genetics +17