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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7.
Am J Hum Genet. 2023.
PMID: 37421948
Free PMC article.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A.
Pelorosso C, et al.
Hum Mol Genet. 2019 Nov 15;28(22):3755-3765. doi: 10.1093/hmg/ddz194.
Hum Mol Genet. 2019.
PMID: 31411685
Free PMC article.
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Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy.
Vasudevaraja V, Rodriguez JH, Pelorosso C, Zhu K, Buccoliero AM, Onozato M, Mohamed H, Serrano J, Tredwin L, Garonzi M, Forcato C, Zeck B, Ramaswami S, Stafford J, Faustin A, Friedman D, Hidalgo ET, Zagzag D, Skok J, Heguy A, Chiriboga L, Conti V, Guerrini R, Iafrate AJ, Devinsky O, Tsirigos A, Golfinos JG, Snuderl M.
Vasudevaraja V, et al. Among authors: pelorosso c.
J Neuropathol Exp Neurol. 2021 Jan 20;80(2):160-168. doi: 10.1093/jnen/nlaa137.
J Neuropathol Exp Neurol. 2021.
PMID: 33274363
Free PMC article.
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MEK1 is required for the development of NRAS-driven leukemia.
Nowacka JD, Baumgartner C, Pelorosso C, Roth M, Zuber J, Baccarini M.
Nowacka JD, et al. Among authors: pelorosso c.
Oncotarget. 2016 Dec 6;7(49):80113-80130. doi: 10.18632/oncotarget.12555.
Oncotarget. 2016.
PMID: 27741509
Free PMC article.
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