Éléonore Eymard-Pierre
Inserm(FR)Université Clermont Auvergne(FR)Clermont Université(FR)Génétique Médicale & Génomique Fonctionelle(FR)Imagerie Moléculaire et Stratégies Théranostiques
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, RNA regulation and disease, Prenatal Screening and Diagnostics, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene(2002)223 cited
- → Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations(2003)195 cited
- → The effect of genotype on the natural history of eIF2B-related leukodystrophies(2004)166 cited
- → Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus(2002)127 cited
- → Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation(2018)86 cited
- → Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease(2003)84 cited