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Page 1
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: van es ma, van eijk kr, van blitterswijk m, van der kooi aj, van damme p, van den berg lh, van doormaal pt, van rheenen w. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 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: van es ma, van t slot r, van den berg lh, van vught pw, van rheenen w. 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
UNC13A is a modifier of survival in amyotrophic lateral sclerosis.
Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, van den Berg LH, Veldink JH. Diekstra FP, et al. Among authors: van es ma, van damme p, van den berg lh, van vught pw, van rheenen w. Neurobiol Aging. 2012 Mar;33(3):630.e3-8. doi: 10.1016/j.neurobiolaging.2011.10.029. Epub 2011 Nov 25. Neurobiol Aging. 2012. PMID: 22118904
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: van blitterswijk m, van der kooi aj, van hilten jj, van damme p, van den berg lh, van de warrenburg bp, van nuenen bf, van vught pw, van rheenen w. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
SMN1 gene duplications are associated with sporadic ALS.
Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: van den berg lh, van vught pw, van rheenen w. Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323753 Free PMC article.
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: van damme p, van den berg lh, van rheenen w, van vught pw. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378146
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.
Groen EJ, van Rheenen W, Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, van den Berg LH, Veldink JH. Groen EJ, et al. Among authors: van den berg lh, van doormaal pt, van rheenen w. Neurobiol Aging. 2012 Aug;33(8):1852.e1-3. doi: 10.1016/j.neurobiolaging.2012.03.007. Epub 2012 Apr 15. Neurobiol Aging. 2012. PMID: 22507827
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: van es ma, van den berg lh, van rheenen w, van vught pw. PLoS One. 2012;7(4):e35333. doi: 10.1371/journal.pone.0035333. Epub 2012 Apr 11. PLoS One. 2012. PMID: 22509407 Free PMC article.
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Among authors: van es ma, van der kooi aj, van den berg lh, van rheenen w. Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645277
UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
van Doormaal PT, van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH, van den Berg LH. van Doormaal PT, et al. Among authors: van blitterswijk m, van der kooi aj, van den berg lh, van rheenen w. Neurobiol Aging. 2012 Sep;33(9):2233.e7-2233.e8. doi: 10.1016/j.neurobiolaging.2012.02.032. Epub 2012 Jun 5. Neurobiol Aging. 2012. PMID: 22676852
81 results