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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: morimoto ri. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
Protecting the future: balancing proteostasis for reproduction.
Sala AJ, Morimoto RI. Sala AJ, et al. Among authors: morimoto ri. Trends Cell Biol. 2022 Mar;32(3):202-215. doi: 10.1016/j.tcb.2021.09.009. Epub 2021 Oct 12. Trends Cell Biol. 2022. PMID: 34654604 Free PMC article. Review.
Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease.
Teixeira-Castro A, Jalles A, Esteves S, Kang S, da Silva Santos L, Silva-Fernandes A, Neto MF, Brielmann RM, Bessa C, Duarte-Silva S, Miranda A, Oliveira S, Neves-Carvalho A, Bessa J, Summavielle T, Silverman RB, Oliveira P, Morimoto RI, Maciel P. Teixeira-Castro A, et al. Among authors: morimoto ri. Brain. 2015 Nov;138(Pt 11):3221-37. doi: 10.1093/brain/awv262. Epub 2015 Sep 15. Brain. 2015. PMID: 26373603 Free PMC article.
281 results