I.F.M. de Coo
Maastricht University Medical Centre(NL)Erasmus MC(NL)Maastricht University(NL)Erasmus University Rotterdam(NL)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, RNA modifications and cancer, Genomics and Rare Diseases
Most-Cited Works
- → Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background(2007)356 cited
- → Gene–environment interactions in Leber hereditary optic neuropathy(2009)345 cited
- → The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature(2015)312 cited
- → Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I(2004)310 cited
- → Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome(2016)283 cited
- → A multicenter study on Leigh syndrome: disease course and predictors of survival(2014)243 cited