Beate Leo‐Kottler

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Christiane Alexander, Marcela Votruba, Ulrike E. A. Pesch et al. · Nature Genetics · 2000 · 1.3K citations

Mendelian Disorder, Dynamin-related Gtpase, Genetic Disorder +6

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Alessandro Achilli, Luisa Iommarini, Anna Olivieri et al. · PLoS ONE · 2012 · 105 citations · Full text

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations

Sascha Fauser, Janina Luberichs, Dorothea Besch et al. · Biochemical and Biophysical Research Communications · 2002 · 66 citations

Neurodegenerative Diseases, Mendelian Disorder, Ophthalmology +11

Mutation Analysis of the ND6 Gene in Patients with Lebers Hereditary Optic Neuropathy

Bernd Wissinger, Dorothea Besch, Britta Baumann et al. · Biochemical and Biophysical Research Communications · 1997 · 60 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +10

Genomic rearrangements in <i>OPA1</i> are frequent in patients with autosomal dominant optic atrophy

Nico Fuhrmann, Marcel V. Alavi, Pierre Bitoun et al. · Journal of Medical Genetics · 2009 · 57 citations