Delphine Simon

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 · 729 citations

Intramitochondrial Iron Deposits, Sensory Nerve Defect, Iron Metabolism +9

Friedreich ataxia: the oxidative stress paradox

H. Seznec, Delphine Simon, Cécile Bouton et al. · Human Molecular Genetics · 2004 · 214 citations · Full text

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

Delphine Simon, H. Seznec, Anne Gansmüller et al. · Journal of Neuroscience · 2004 · 199 citations · Full text

Progressive Neurological Degeneration, Cell Death, Social Sciences +18

A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Delphine Simon, Benoît Laloo, Malika Barillot et al. · Human Molecular Genetics · 2010 · 93 citations · Full text

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

Marianne Stef, Delphine Simon, Béatrice Mardirossian et al. · European Journal of Human Genetics · 2007 · 56 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6