Pierre Rustin

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Nils‐Göran Larsson, Jianming Wang, Hans Wilhelmsson et al. · Nature Genetics · 1998 · 1.6K citations

Life Sciences, Genetics, Molecular Biology +14

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Agnès Rötig, Pascale de Lonlay, Dominique Chrétien et al. · Nature Genetics · 1997 · 991 citations

Life Sciences, Biochemistry, Genetics +12

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Patrick J. Pollard, J.-J. Brière, Neyaz Alam et al. · Human Molecular Genetics · 2005 · 849 citations · Full text

Medicine, Genetics, Oncology +17

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

Éric Letouzé, Cosimo Martinelli, Céline Loriot et al. · Cancer Cell · 2013 · 768 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio, Delphine Simon, Mireille Cossée et al. · Nature Genetics · 2001 · 738 citations

Medicine, Neurology, Neuroscience +17