Delphine Simon
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities, Ubiquitin and proteasome pathways
Most-Cited Works
- → Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits(2001)730 cited
- → Friedreich ataxia: the oxidative stress paradox(2004)214 cited
- → Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia(2004)200 cited
- → A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia(2010)93 cited
- → Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients(2007)56 cited
- → SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism(2013)44 cited
- → Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype(2016)43 cited
- → 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene(2009)41 cited
- → Economic Analysis of the Potential of Cellulosic Biomass Available in France from Agricultural Residue and Energy Crops(2009)40 cited
- → High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene(2013)28 cited