Nadine Gigarel
Hôpital Necker-Enfants Malades(FR)Inserm(FR)Université Paris Cité(FR)Institut Necker Enfants Malades(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Prenatal Screening and Diagnostics, RNA modifications and cancer, Congenital Anomalies and Fetal Surgery
Most-Cited Works
- → Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy(2000)1,421 cited
- → Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy(2000)353 cited
- → Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling(2006)129 cited
- → Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system(2010)115 cited
- → Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis(2013)79 cited
- → Multiple displacement amplification improves PGD for fragile X syndrome(2006)64 cited