1.
Marques C, Held A, Dorfman K, et al. Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia. Acta neuropathologica. 2024;147(1):56. doi:10.1007/s00401-024-02688-z.
1.
Ross JP, Akçimen F, Liao C, et al. Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100967. doi:10.1016/j.gim.2023.100967.
1.
Dilliott AA, Kwon S, Rouleau GA, Iqbal S, Farhan SMK. Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes. Brain : a journal of neurology. 2023. doi:10.1093/brain/awad224.
1.
Kaivola K, Chia R, Ding J, et al. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell genomics. 2023;3(6):100316. doi:10.1016/j.xgen.2023.100316.
1.
Bjornevik K, O’Reilly Éilis J, Berry JD, et al. Prediagnostic plasma branched-chain amino acids and the risk of amyotrophic lateral sclerosis. Neurology. 2019;92(18):e2081-e2088. doi:10.1212/WNL.0000000000006669.
1.
Wainger BJ, Lagier-Tourenne C. Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS. Cell Stem Cell. 2018;23(4):466-467. doi:10.1016/j.stem.2018.09.015.
1.
Fay MM, Anderson PJ, Ivanov P. ALS/FTD-Associated C9ORF72 Repeat RNA Promotes Phase Transitions In Vitro and in Cells. Cell Rep. 2017;21(12):3573-3584. doi:10.1016/j.celrep.2017.11.093.
1.
Tabet R, Schaeffer L, Freyermuth F, et al. CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts. Nat Commun. 2018;9(1):152. doi:10.1038/s41467-017-02643-5.
1.
Li N, Lagier-Tourenne C. Nuclear pores: the gate to neurodegeneration. Nat Neurosci. 2018;21(2):156-158. doi:10.1038/s41593-017-0066-0.
1.
Nicolas A, Kenna KP, Renton AE, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018;97(6):1268-1283.e6. doi:10.1016/j.neuron.2018.02.027.