Julien Couthouis - Publications

University of Pennsylvania, Philadelphia, PA, United States 

24 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Napolioni V, Fredericks CA, Kim Y, Channappa D, Khan RR, Kim LH, Zafar F, Couthouis J, Davidzon GA, Mormino EC, Gitler AD, Montine TJ, Schüle B, Greicius MD. Phenotypic Heterogeneity among p.R202X Carriers in Lewy Body Spectrum Disorders. Biomedicines. 10. PMID 35052839 DOI: 10.3390/biomedicines10010160  0.503
2022 Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Confirming Pathogenicity of the F386L Variant in a South Asian Family With Early-Onset Alzheimer Disease. Neurology. Genetics. 8: e647. PMID 34901437 DOI: 10.1212/NXG.0000000000000647  0.517
2021 Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K, Ramaswami G, Simon DJ, Nof A, Santana M, Han K, et al. p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR). Cell. PMID 33482083 DOI: 10.1016/j.cell.2020.12.025  0.731
2020 Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J, Yu CE, Tsuang DW, Jayadev S, Kay MA, Gitler AD, et al. Evolution of a Human-Specific Tandem Repeat Associated with ALS. American Journal of Human Genetics. PMID 32750315 DOI: 10.1016/J.Ajhg.2020.07.004  0.61
2020 Guttenplan KA, Weigel MK, Adler DI, Couthouis J, Liddelow SA, Gitler AD, Barres BA. Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model. Nature Communications. 11: 3753. PMID 32719333 DOI: 10.1038/S41467-020-17514-9  0.742
2020 Johnson AG, Flynn RA, Lapointe CP, Ooi YS, Zhao ML, Richards CM, Qiao W, Yamada SB, Couthouis J, Gitler AD, Carette JE, Puglisi JD. A memory of eS25 loss drives resistance phenotypes. Nucleic Acids Research. PMID 32463448 DOI: 10.1093/Nar/Gkaa444  0.736
2019 Chai N, Haney MS, Couthouis J, Morgens DW, Benjamin A, Wu K, Ousey J, Fang S, Finer S, Bassik MC, Gitler AD. Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72. Brain Research. 146601. PMID 31843624 DOI: 10.1016/J.Brainres.2019.146601  0.711
2019 Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human Genetics. PMID 30982135 DOI: 10.1007/S00439-019-02000-0  0.604
2019 Bieri G, Brahic M, Bousset L, Couthouis J, Kramer NJ, Ma R, Nakayama L, Monbureau M, Defensor E, Schüle B, Shamloo M, Melki R, Gitler AD. LRRK2 modifies α-syn pathology and spread in mouse models and human neurons. Acta Neuropathologica. PMID 30927072 DOI: 10.1007/S00401-019-01995-0  0.59
2018 Couthouis J, Gitler AD. These violent repeats have violent extends. Neurology. Genetics. 4: e247. PMID 30109264 DOI: 10.1212/Nxg.0000000000000247  0.548
2018 Kramer NJ, Haney MS, Morgens DW, Jovičić A, Couthouis J, Li A, Ousey J, Ma R, Bieri G, Tsui CK, Shi Y, Hertz NT, Tessier-Lavigne M, Ichida JK, Bassik MC, et al. CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity. Nature Genetics. PMID 29507424 DOI: 10.1038/S41588-018-0070-7  0.768
2018 Tsai PI, Lin CH, Hsieh CH, Papakyrikos AM, Kim MJ, Napolioni V, Schoor C, Couthouis J, Wu RM, Wszolek ZK, Winter D, Greicius MD, Ross OA, Wang X. PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions. Molecular Cell. PMID 29456190 DOI: 10.1016/J.Molcel.2018.01.026  0.324
2018 Kim Y, Khan RR, Kim LH, Couthouis J, Gitler AD, Channappa D, Plowey ED, Napolioni V, Greicius MD. P1-135: Rare Missense Variants On Znf679 And Ctd-3214H19.16 Segregate In A Family With A History Of Synucleinopathy Alzheimers & Dementia. 14: 324. DOI: 10.1016/J.Jalz.2018.06.138  0.548
2017 Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. Plos One. 12: e0179369. PMID 28617828 DOI: 10.1371/Journal.Pone.0179369  0.548
2017 Khan RR, Napolioni V, Altmann A, Seeley WW, Montine TJ, Coppola G, Chen JA, Plowey ED, Channappa D, Gitler AD, Couthouis J, Flanagan ME, Greicius MD. IDENTIFICATION OF AN ITGA7 VARIANT ASSOCIATED WITH ALZHEIMER’S DISEASE AND MULTIPLE OTHER NEURODEGENERATIVE DISEASES Alzheimer's & Dementia. 13: P193-P194. DOI: 10.1016/J.Jalz.2017.07.050  0.582
2017 Khan RR, Altmann A, Kim LH, Couthouis J, Napolioni V, Gitler AD, Greicius MD. Novel Missense Variant On Epha1 In A Protected Apoe4 Family Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.06.745  0.548
2016 Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW, Goodman LD, Daughrity L, Chew J, Garrett A, et al. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science (New York, N.Y.). 353: 708-12. PMID 27516603 DOI: 10.1126/Science.Aaf7791  0.622
2015 Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (New York, N.Y.). 347: 1436-41. PMID 25700176 DOI: 10.1126/Science.Aaa3650  0.658
2014 Couthouis J, Raphael AR, Daneshjou R, Gitler AD. Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. Plos Genetics. 10: e1004704. PMID 25299611 DOI: 10.1371/Journal.Pgen.1004704  0.548
2014 Raphael AR, Couthouis J, Sakamuri S, Siskind C, Vogel H, Day JW, Gitler AD. Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. Brain Research. 1575: 66-71. PMID 24780531 DOI: 10.1016/J.Brainres.2014.04.028  0.58
2014 Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscular Disorders : Nmd. 24: 431-5. PMID 24594375 DOI: 10.1016/J.Nmd.2014.01.014  0.587
2013 Chesi A, Staahl BT, Jovičić A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, Williams KL, Fifita JA, Maragakis NJ, Nicholson GA, King OD, et al. Exome sequencing to identify de novo mutations in sporadic ALS trios. Nature Neuroscience. 16: 851-5. PMID 23708140 DOI: 10.1038/Nn.3412  0.68
2012 Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, et al. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Human Molecular Genetics. 21: 2899-911. PMID 22454397 DOI: 10.1093/Hmg/Dds116  0.775
2011 Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, et al. A yeast functional screen predicts new candidate ALS disease genes. Proceedings of the National Academy of Sciences of the United States of America. 108: 20881-90. PMID 22065782 DOI: 10.1073/Pnas.1109434108  0.771
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