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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K… See abstract for full author list ➔ Küry S, et al. Among authors: proietti onori m. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
CAMK2-Dependent Signaling in Neurons Is Essential for Survival.
Kool MJ, Proietti Onori M, Borgesius NZ, van de Bree JE, Elgersma-Hooisma M, Nio E, Bezstarosti K, Buitendijk GHS, Aghadavoud Jolfaei M, Demmers JAA, Elgersma Y, van Woerden GM. Kool MJ, et al. Among authors: proietti onori m. J Neurosci. 2019 Jul 10;39(28):5424-5439. doi: 10.1523/JNEUROSCI.1341-18.2019. Epub 2019 May 7. J Neurosci. 2019. PMID: 31064859 Free PMC article.
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF, Kousi M, van Woerden GM, Klein M, Bralten J, Mancini GMS, van Essen T, Proietti-Onori M, Smeets EEJ, van Gastel M, Stegmann APA, Stevens SJC, Lelieveld SH, Gilissen C, Pfundt R, Tan PL, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner HG. Reijnders MRF, et al. Among authors: proietti onori m. Nat Commun. 2017 Oct 20;8(1):1052. doi: 10.1038/s41467-017-00933-6. Nat Commun. 2017. PMID: 29051493 Free PMC article.
Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model.
Koene LMC, van Grondelle SE, Proietti Onori M, Wallaard I, Kooijman NHRM, van Oort A, Schreiber J, Elgersma Y. Koene LMC, et al. Among authors: proietti onori m. Ann Clin Transl Neurol. 2019 Jul;6(7):1273-1291. doi: 10.1002/acn3.50829. Epub 2019 Jun 24. Ann Clin Transl Neurol. 2019. PMID: 31353861 Free PMC article.
Protein Phosphatase 2B Dual Function Facilitates Synaptic Integrity and Motor Learning.
Lin Z, Wu B, Paul MW, Li KW, Yao Y, Smal I, Proietti Onori M, Hasanbegovic H, Bezstarosti K, Demmers J, Houtsmuller AB, Meijering E, Hoebeek FE, Schonewille M, Smit AB, Gao Z, De Zeeuw CI. Lin Z, et al. Among authors: proietti onori m. J Neurosci. 2021 Jun 30;41(26):5579-5594. doi: 10.1523/JNEUROSCI.1741-20.2021. Epub 2021 May 21. J Neurosci. 2021. PMID: 34021041 Free PMC article.
17 results