I.F.M. de Coo

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Gavin Hudson, Valério Carelli, Liesbeth Spruijt et al. · The American Journal of Human Genetics · 2007 · 356 citations · Full text

Neurodegenerative Diseases, Clinical Expression, Ophthalmology +10

Gene–environment interactions in Leber hereditary optic neuropathy

Matthew A. Kirkman, Patrick Yu‐Wai‐Man, Alex Korsten et al. · Brain · 2009 · 342 citations · Full text

Gene–environment Interactions, Visual Failure, Ophthalmology +15

Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I

Hermann Schägger, I.F.M. de Coo, Matthias Bauer et al. · Journal of Biological Chemistry · 2004 · 310 citations · Full text

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 278 citations · Full text

Disease Etiology, Genetics, Pseudo-torch Syndrome +17

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 243 citations · Full text