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2002 1
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Page 1
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N. Khazaei S, et al. Among authors: pizoli ce. Cell. 2023 Mar 16;186(6):1162-1178.e20. doi: 10.1016/j.cell.2023.02.023. Cell. 2023. PMID: 36931244 Free PMC article.
PURA Syndrome and Myotonia.
Trau SP, Pizoli CE. Trau SP, et al. Among authors: pizoli ce. Pediatr Neurol. 2020 Mar;104:62-63. doi: 10.1016/j.pediatrneurol.2019.09.008. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31911028 No abstract available.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT, Liu SW, Francescatto L, Behura A, Anneling M, Jackson DG, Deak KL, Hornik CD, ElMallah MK, Pizoli CE, Smith EC, Queenie Tan KG, McDonald MT. Cocanougher BT, et al. Among authors: pizoli ce. HGG Adv. 2024 Apr 1:100288. doi: 10.1016/j.xhgg.2024.100288. Online ahead of print. HGG Adv. 2024. PMID: 38566418 Free article.
Limited regional cerebellar dysfunction induces focal dystonia in mice.
Raike RS, Pizoli CE, Weisz C, van den Maagdenberg AM, Jinnah HA, Hess EJ. Raike RS, et al. Among authors: pizoli ce. Neurobiol Dis. 2013 Jan;49:200-10. doi: 10.1016/j.nbd.2012.07.019. Epub 2012 Jul 28. Neurobiol Dis. 2013. PMID: 22850483 Free PMC article.
Abnormal cerebellar signaling induces dystonia in mice.
Pizoli CE, Jinnah HA, Billingsley ML, Hess EJ. Pizoli CE, et al. J Neurosci. 2002 Sep 1;22(17):7825-33. doi: 10.1523/JNEUROSCI.22-17-07825.2002. J Neurosci. 2002. PMID: 12196606 Free PMC article.
13 results