Leber's hereditary optic neuropathy with dystonia in a Japanese family

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Laurie J. Ozelius, Jeffrey Hewett, Curtis E. Page et al. · Nature Genetics · 1997 · 1K citations

Life Sciences, Genetics, Neuroscience +7

MITOMAP: a human mitochondrial genome database--2004 update

Martin Brandon · Nucleic Acids Research · 2004 · 572 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.

Eeva Nikoskelainen, R. J. Marttila, Kirsi Huoponen et al. · Journal of Neurology Neurosurgery & Psychiatry · 1995 · 270 citations · Full text

Life Sciences, Genetics, Neurology +17

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Neil Howell, Iwona Kubacka, Meifen Xu et al. · PubMed · 1991 · 242 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Daniëlle de Vries, L.N. Went, G.W. Bruyn et al. · PubMed · 1996 · 192 citations

Life Sciences, Genetics, Molecular Genetics +16