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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2017Antenatal suppression of il-1 protects against inflammation-induced fetal injury and improves neonatal and developmental outcomes in miceNadeau-Vallée, M.; Chin, P.; Belarbi, L.; Brien, M.; Pundir, S.; Berryer, M.; Beaudry-Richard, A.; Madaan, A.; Sharkey, D.; Lupien-Meilleur, A.; Hou, X.; Quiniou, C.; Beaulac, A.; Boufaied, I.; Boudreault, A.; Carbonaro, A.; Doan, N.; Joyal, J.; Lubell, W.; Olson, D.; et al.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2015p75NTR ectodomain is a physiological neuroprotective molecule against amyloid-beta toxicity in the brain of Alzheimer's diseaseYao, X.Q.; Jiao, S.S.; Saadipour, K.; Zeng, F.; Wang, Q.H.; Zhu, C.; Shen, L.L.; Zeng, G.H.; Liang, C.R.; Wang, J.; Liu, Y.H.; Hou, H.Y.; Xu, X.; Su, Y.P.; Fan, X.T.; Xiao, H.L.; Lue, L.F.; Zeng, Y.Q.; Giunta, B.; Zhong, J.H.; et al.
2015Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneIshibashi, M.; Manning, E.; Shoubridge, C.; Krecsmarik, M.; Hawkins, T.; Giacomotto, J.; Zhao, T.; Mueller, T.; Bader, P.; Cheung, S.; Stankiewicz, P.; Bain, N.; Hackett, A.; Reddy, C.; Mechaly, A.; Peers, B.; Wilson, S.; Lenhard, B.; Bally-Cuif, L.; Gecz, J.; et al.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.