Pascale de Lonlay

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Agnès Rötig, Pascale de Lonlay, Dominique Chrétien et al. · Nature Genetics · 1997 · 987 citations

Mitochondrial Function, Biochemistry, Iron Metabolism +6

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 916 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +7

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Alice Bourdon, Limor Minai, Valérie Serre et al. · Nature Genetics · 2007 · 517 citations

Genome Instability, Mitochondrial Function, P53-controlled Ribonucleotide Reductase +10

Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia

Francesca Menni, Pascale de Lonlay, Caroline Sevin et al. · PEDIATRICS · 2001 · 344 citations

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos et al. · Nature Genetics · 2001 · 313 citations

Liver Failure, Mitophagy, Protein Quality Control +8