Nadine Gigarel

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

Neurodegenerative Diseases, Mitochondrial Function, Ophthalmology +9

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel et al. · The American Journal of Human Genetics · 2000 · 353 citations · Full text

Hepatology, Mitochondrial Function, Biochemistry +11

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin et al. · Human Mutation · 2006 · 129 citations · Full text

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

Sophie Monnot, Nadine Gigarel, David C. Samuels et al. · Human Mutation · 2010 · 115 citations · Full text

Genetic Testing, Dna, Cytogenetics +22

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis

Sophie Monnot, David C. Samuels, Laëtitia Hesters et al. · Human Molecular Genetics · 2013 · 79 citations

Dna, Genetics, Human Embryogenesis +22