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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication.
Bozdagi O, Sakurai T, Papapetrou D, Wang X, Dickstein DL, Takahashi N, Kajiwara Y, Yang M, Katz AM, Scattoni ML, Harris MJ, Saxena R, Silverman JL, Crawley JN, Zhou Q, Hof PR, Buxbaum JD. Bozdagi O, et al. Among authors: sakurai t. Mol Autism. 2010 Dec 17;1(1):15. doi: 10.1186/2040-2392-1-15. Mol Autism. 2010. PMID: 21167025 Free PMC article.
Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders.
Sakurai T, Ramoz N, Barreto M, Gazdoiu M, Takahashi N, Gertner M, Dorr N, Gama Sosa MA, De Gasperi R, Perez G, Schmeidler J, Mitropoulou V, Le HC, Lupu M, Hof PR, Elder GA, Buxbaum JD. Sakurai T, et al. Biol Psychiatry. 2010 May 1;67(9):887-94. doi: 10.1016/j.biopsych.2009.08.042. Epub 2009 Dec 16. Biol Psychiatry. 2010. PMID: 20015484 Free PMC article.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Glessner JT, et al. Among authors: sakurai t. Nature. 2009 May 28;459(7246):569-73. doi: 10.1038/nature07953. Epub 2009 Apr 28. Nature. 2009. PMID: 19404257 Free PMC article.
3,559 results