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Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
Patel PA, Hegert JV, Cristian I, Kerr A, LaConte LEW, Fox MA, Srivastava S, Mukherjee K. Patel PA, et al. Among authors: srivastava s. J Med Genet. 2022 Nov;59(11):1044-1057. doi: 10.1136/jmedgenet-2021-108115. Epub 2022 Feb 11. J Med Genet. 2022. PMID: 35149592 Free PMC article.
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways.
Patel PA, Liang C, Arora A, Vijayan S, Ahuja S, Wagley PK, Settlage R, LaConte LEW, Goodkin HP, Lazar I, Srivastava S, Mukherjee K. Patel PA, et al. Among authors: srivastava s. Exp Neurol. 2020 Jul;329:113319. doi: 10.1016/j.expneurol.2020.113319. Epub 2020 Apr 17. Exp Neurol. 2020. PMID: 32305418 Free PMC article.
6,134 results