Laurence Reutenauer

Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

Mireille Cossée, M. Schmitt, Victoria Campuzano et al. · Proceedings of the National Academy of Sciences · 1997 · 328 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

L Cavalier, Karim Ouahchi, Herbert J. Kayden et al. · The American Journal of Human Genetics · 1998 · 310 citations · Full text

Life Sciences, Genetics, Neurology +16

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Morgane Perdomini, Brahim Belbellaa, Laurent Monassier et al. · Nature Medicine · 2014 · 230 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

Stéphane Schmucker, Alain Martelli, Florent Colin et al. · PLoS ONE · 2011 · 227 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Friedreich ataxia: the oxidative stress paradox

H. Seznec, Delphine Simon, Cécile Bouton et al. · Human Molecular Genetics · 2004 · 215 citations · Full text

Life Sciences, Biochemistry, Neurobiology +17