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NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility.
Nat Commun. 2022 Jun 13;13(1):3380. doi: 10.1038/s41467-022-31098-6.
Nat Commun. 2022.
PMID: 35697676
Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.
Gorman KM, et al.
Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.
Am J Hum Genet. 2019.
PMID: 30982612
Free PMC article.
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