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VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
Passemard S, El Ghouzzi V, Nasser H, Verney C, Vodjdani G, Lacaud A, Lebon S, Laburthe M, Robberecht P, Nardelli J, Mani S, Verloes A, Gressens P, Lelièvre V. Passemard S, et al. Among authors: nasser h. J Clin Invest. 2011 Aug;121(8):3071-87. doi: 10.1172/JCI43824. J Clin Invest. 2011. PMID: 21737879 Free PMC article.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A, Tabet AC. Lévy J, et al. Among authors: nasser h. Clin Genet. 2021 Oct;100(4):396-404. doi: 10.1111/cge.14017. Epub 2021 Jul 1. Clin Genet. 2021. PMID: 34176129
Felbamate for infantile spasms syndrome resistant to first-line treatments.
Dozières-Puyravel B, Nasser H, Bellavoine V, Ilea A, Delanoe C, Auvin S. Dozières-Puyravel B, et al. Among authors: nasser h. Dev Med Child Neurol. 2020 May;62(5):581-586. doi: 10.1111/dmcn.14427. Epub 2019 Dec 18. Dev Med Child Neurol. 2020. PMID: 31850517 Free article.
Focal epilepsy due to de novo SCN1A mutation.
Laur D, Dozières-Puyravel B, Iléa A, Nava C, Delanoë C, Nasser H, Le Guern E, Auvin S. Laur D, et al. Among authors: nasser h. Epileptic Disord. 2021 Jun 1;23(3):459-465. doi: 10.1684/epd.2021.1285. Epileptic Disord. 2021. PMID: 34106054
225 results