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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
Raj N, McEachin ZT, Harousseau W, Zhou Y, Zhang F, Merritt-Garza ME, Taliaferro JM, Kalinowska M, Marro SG, Hales CM, Berry-Kravis E, Wolf-Ochoa MW, Martinez-Cerdeño V, Wernig M, Chen L, Klann E, Warren ST, Jin P, Wen Z, Bassell GJ. Raj N, et al. Cell Rep. 2021 Apr 13;35(2):108991. doi: 10.1016/j.celrep.2021.108991. Cell Rep. 2021. PMID: 33852833 Free PMC article.
Outcome measures for clinical trials in fragile X syndrome.
Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK; Outcome Measures Working Groups. Berry-Kravis E, et al. J Dev Behav Pediatr. 2013 Sep;34(7):508-22. doi: 10.1097/DBP.0b013e31829d1f20. J Dev Behav Pediatr. 2013. PMID: 24042082 Free PMC article.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, Zhou L, Brown WT, Berry-Kravis E, Kaufmann WE, Latham GJ. Budimirovic DB, et al. Brain Sci. 2020 Sep 30;10(10):694. doi: 10.3390/brainsci10100694. Brain Sci. 2020. PMID: 33008014 Free PMC article.
348 results