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Page 1
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI; Project MinE ALS Sequencing Consortium; Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Hop PJ, et al. Among authors: landers je. Nat Genet. 2024 Jul;56(7):1371-1376. doi: 10.1038/s41588-024-01787-7. Epub 2024 Jun 10. Nat Genet. 2024. PMID: 38858457 Free PMC article.
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr. Landers JE, et al. Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. doi: 10.1073/pnas.0812937106. Epub 2009 May 18. Proc Natl Acad Sci U S A. 2009. PMID: 19451621 Free PMC article.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: landers je. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
Mutational analysis of TARDBP in neurodegenerative diseases.
Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: landers je. Neurobiol Aging. 2011 Nov;32(11):2096-9. doi: 10.1016/j.neurobiolaging.2009.11.018. Epub 2009 Dec 23. Neurobiol Aging. 2011. PMID: 20031275 Free PMC article.
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Ticozzi N, LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE. Ticozzi N, et al. Among authors: landers je. Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993. Ann Neurol. 2010. PMID: 20582942 Free PMC article.
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: landers je. Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4. Hum Mol Genet. 2010. PMID: 20685689
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Among authors: landers je. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH. Diekstra FP, et al. Among authors: landers je. PLoS One. 2012;7(4):e35333. doi: 10.1371/journal.pone.0035333. Epub 2012 Apr 11. PLoS One. 2012. PMID: 22509407 Free PMC article.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE. Wu CH, et al. Among authors: landers je. Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280. Nature. 2012. PMID: 22801503 Free PMC article.
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH. Ingre C, et al. Among authors: landers je. Neurobiol Aging. 2013 Jun;34(6):1708.e1-6. doi: 10.1016/j.neurobiolaging.2012.10.009. Epub 2012 Nov 8. Neurobiol Aging. 2013. PMID: 23141414 Free PMC article.
119 results