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Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells.
Levite M, Zelig D, Friedman A, Ilouz N, Eilam R, Bromberg Z, Ramadhan Lasu AA, Arbel-Alon S, Edvardson S, Tarshish M, Riek LP, Lako RL, Reubinoff B, Lebendiker M, Yaish D, Stavsky A, Galun E. Levite M, et al. Among authors: edvardson s. J Autoimmun. 2020 Aug;112:102462. doi: 10.1016/j.jaut.2020.102462. Epub 2020 Apr 10. J Autoimmun. 2020. PMID: 32561150
Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove.
Benedek G, Abed El Latif M, Miller K, Rivkin M, Ramadhan Lasu AA, Riek LP, Lako R, Edvardson S, Alon SA, Galun E, Levite M. Benedek G, et al. Among authors: edvardson s. PLoS Negl Trop Dis. 2020 Jul 8;14(7):e0008436. doi: 10.1371/journal.pntd.0008436. eCollection 2020 Jul. PLoS Negl Trop Dis. 2020. PMID: 32639997 Free PMC article.
Macrophage migration inhibitory factor in Nodding syndrome.
Benedek G, Abed El Latif M, Miller K, Rivkin M, Ahmed Ramadhan Lasu A, P Riek L, Lako R, Edvardson S, Arbel-Alon S, Galun E, Levite M. Benedek G, et al. Among authors: edvardson s. PLoS Negl Trop Dis. 2021 Oct 18;15(10):e0009821. doi: 10.1371/journal.pntd.0009821. eCollection 2021 Oct. PLoS Negl Trop Dis. 2021. PMID: 34662363 Free PMC article.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. Boczonadi V, et al. Among authors: edvardson s. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T. Sheffer R, et al. Among authors: edvardson s. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976113 Free PMC article.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Chaouch A, et al. Among authors: edvardson s. J Neuromuscul Dis. 2014;1(1):75-90. doi: 10.3233/JND-140021. J Neuromuscul Dis. 2014. PMID: 26870663 Free PMC article.
101 results