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Published in 2018 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2018.04.006
Abstract: Biallelic nonsense mutations of SYNE1 underlie a variable array of cerebellar and non-cerebellar pathologies of unknown molecular etiology. SYNE1 encodes multiple isoforms of Nesprin1 that associate with the nuclear envelope, with large cerebellar synapses and…
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Keywords:
isoform nesprin1;
rootlets ependymal;
ciliary rootlets;
associates ciliary ... See more keywords