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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I. Mechaussier S, et al. Among authors: duenas rey a. Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28. Am J Hum Genet. 2020. PMID: 32470375 Free PMC article.
The MHC class II transactivator modulates seeded alpha-synuclein pathology and dopaminergic neurodegeneration in an in vivo rat model of Parkinson's disease.
Jimenez-Ferrer I, Bäckström F, Dueñas-Rey A, Jewett M, Boza-Serrano A, Luk KC, Deierborg T, Swanberg M. Jimenez-Ferrer I, et al. Among authors: duenas rey a. Brain Behav Immun. 2021 Jan;91:369-382. doi: 10.1016/j.bbi.2020.10.017. Epub 2020 Oct 22. Brain Behav Immun. 2021. PMID: 33223048 Free article.