Sabine Defoort-Delhemmes
Centre Hospitalier Universitaire de Lille(FR)Lille’s Cardiology Hospital(FR)Hôpital Roger Salengro(FR)
Publications by Year
Research Areas
Retinal Diseases and Treatments, Retinal Development and Disorders, Chromosomal and Genetic Variations, Microtubule and mitosis dynamics, Lysosomal Storage Disorders Research
Most-Cited Works
- → Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy(2012)145 cited
- → AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation(2012)102 cited
- → Extensive macular atrophy with pseudodrusen‐like appearance (EMAP), a new clinical entity(2009)
- Antisense Oligonucleotide-mediated Exon Skipping Improves Primary Cilia Assembly In Fibroblasts Harbouring The Common Lca Cep290 C.2991+1655g>A Mutation(2012)
- Subretinal Deposits and Abnormal ERG Findings in Extensive Macular Atrophy With Pseudodrusen-Like Appearance (EMAP)(2010)