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Preclinical research in Rett syndrome: setting the foundation for translational success.
Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, Schaevitz LR, St Hillaire-Clarke C, Young JL, Zoghbi HY, Mamounas LA. Katz DM, et al. Dis Model Mech. 2012 Nov;5(6):733-45. doi: 10.1242/dmm.011007. Dis Model Mech. 2012. PMID: 23115203 Free PMC article. Review.
Mapping pathological phenotypes in a mouse model of CDKL5 disorder.
Amendola E, Zhan Y, Mattucci C, Castroflorio E, Calcagno E, Fuchs C, Lonetti G, Silingardi D, Vyssotski AL, Farley D, Ciani E, Pizzorusso T, Giustetto M, Gross CT. Amendola E, et al. PLoS One. 2014 May 16;9(5):e91613. doi: 10.1371/journal.pone.0091613. eCollection 2014. PLoS One. 2014. PMID: 24838000 Free PMC article.
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group. Pini G, et al. Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430159
Blocking ADAM10 synaptic trafficking generates a model of sporadic Alzheimer's disease.
Epis R, Marcello E, Gardoni F, Vastagh C, Malinverno M, Balducci C, Colombo A, Borroni B, Vara H, Dell'Agli M, Cattabeni F, Giustetto M, Borsello T, Forloni G, Padovani A, Di Luca M. Epis R, et al. Brain. 2010 Nov;133(11):3323-35. doi: 10.1093/brain/awq217. Epub 2010 Aug 30. Brain. 2010. PMID: 20805102 Free article.
25 results