Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Émilie Riou"'
Autor:
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Background Mutations in the GATOR1 complex genes, DEPDC5 and NPRL3, play a major role in the development of lesional and non-lesional focal epilepsy through increased mTORC1 signalling. We aimed to assess the effects of mTORC1 hyperactivatio
Externí odkaz:
https://doaj.org/article/d58bfc4718b74897a9a1d20383163883
Autor:
Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D’Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkemaladze, Laura Adang, Roberta La Piana, Geneviève Bernard, Nancy Braverman
Publikováno v:
Neurogenetics. 23(2)
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. Compared to other PEX-related disorders, some PEX16 defects
Autor:
Marilyn Aita, Gwenaëlle De Clifford Faugère, Andréane Lavallée, Nancy Feeley, Robyn Stremler, Émilie Rioux, Marie-Hélène Proulx
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-17 (2021)
Abstract Background As preterm infants’ neurodevelopment is shaped by NICU-related factors during their hospitalization, it is essential to evaluate which interventions are more beneficial for their neurodevelopment at this specific time. The objec
Externí odkaz:
https://doaj.org/article/279a2d238e8f45668be3541e796f5925
Publikováno v:
Pediatric Neurology. 41:77-78