Anne Lombès

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani et al. · New England Journal of Medicine · 1989 · 1K citations

Medicine, Genetics, Ophthalmology +17

Mitochondrial Fusion in Human Cells Is Efficient, Requires the Inner Membrane Potential, and Is Mediated by Mitofusins

Frédéric Legros, Anne Lombès, Paule Frachon et al. · Molecular Biology of the Cell · 2002 · 662 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

Manuel Rojo, Frédéric Legros, Danielle Château et al. · Journal of Cell Science · 2002 · 543 citations

Life Sciences, Biochemistry, Cell Biology +15

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Michio Hirano, Gabriella Silvestri, D. M. Blake et al. · Neurology · 1994 · 407 citations

Life Sciences, Neurology, Neuroscience +17