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mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M. Krochmalnek E, et al. Among authors: st onge j. Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 37900581 Free PMC article.
A mutation that creates a pseudoexon in SOD1 causes familial ALS.
Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA. Valdmanis PN, et al. Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. doi: 10.1111/j.1469-1809.2009.00546.x. Ann Hum Genet. 2009. PMID: 19847927 No abstract available.
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P. Fassio A, et al. Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25. Hum Mol Genet. 2011. PMID: 21441247
122 results