Éléonore Eymard-Pierre

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Éléonore Eymard-Pierre, Gaëtan Lesca, Sandra Dollet et al. · The American Journal of Human Genetics · 2002 · 223 citations · Full text

Life Sciences, Genetics, Neurology +12

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Anne Fogli, Diana Rodriguez, Éléonore Eymard-Pierre et al. · The American Journal of Human Genetics · 2003 · 196 citations · Full text

Medicine, Genetics, Molecular Biology +14

The effect of genotype on the natural history of eIF2B-related leukodystrophies

Anne Fogli, Raphael Schiffmann, Enrico Bertini et al. · Neurology · 2004 · 166 citations

Life Sciences, Genetics, Neurology +16

Cree leukoencephalopathy and CACH/VWM disease are allelic at the <i>EIF2B5</i> locus

Anne Fogli, Kondi Wong, Éléonore Eymard-Pierre et al. · Annals of Neurology · 2002 · 127 citations · Full text

Life Sciences, Genetics, Neurology +17

Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Imen Dorboz, Hélène Dumay‐Odelot, Yosra Bouyacoub et al. · Neurology Genetics · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17