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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.
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: van der kooi aj, van den berg lh, van doormaal pt, van vught pw. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.
Van Es MA, Van Vught PW, Veldink JH, Andersen PM, Birve A, Lemmens R, Cronin S, Van Der Kooi AJ, De Visser M, Schelhaas HJ, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke JH, Ophoff RA, Van Den Berg LH. Van Es MA, et al. Among authors: van der kooi aj, van den berg lh, van vught pw. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042. Amyotroph Lateral Scler. 2009. PMID: 19922138
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy.
Raaphorst J, de Visser M, van Tol MJ, Linssen WH, van der Kooi AJ, de Haan RJ, van den Berg LH, Schmand B. Raaphorst J, et al. Among authors: van der kooi aj, van den berg lh, van tol mj. J Neurol Neurosurg Psychiatry. 2011 Feb;82(2):170-5. doi: 10.1136/jnnp.2009.204446. Epub 2010 Jun 18. J Neurol Neurosurg Psychiatry. 2011. PMID: 20562407
[Recurrent rhabdomyolysis: screening for underlying disease].
Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJ, Verschuuren JJ, de Visser M. Zutt R, et al. Among authors: van der kooi aj. Ned Tijdschr Geneeskd. 2010;154:A2290. Ned Tijdschr Geneeskd. 2010. PMID: 21083951 Dutch.
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology.
Huisman MH, de Jong SW, van Doormaal PT, Weinreich SS, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. Huisman MH, et al. Among authors: van der kooi aj, van den berg lh, van doormaal pt. J Neurol Neurosurg Psychiatry. 2011 Oct;82(10):1165-70. doi: 10.1136/jnnp.2011.244939. Epub 2011 May 27. J Neurol Neurosurg Psychiatry. 2011. PMID: 21622937
The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ. de Vries SD, et al. Among authors: van paassen bw, van ruissen f, van der kooi aj, van engelen bg. J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x. J Peripher Nerv Syst. 2011. PMID: 21692910
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
van Blitterswijk M, van Vught PW, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M, 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 vught pw. Neurobiol Aging. 2012 May;33(5):1016.e1-7. doi: 10.1016/j.neurobiolaging.2011.05.019. Epub 2011 Jul 28. Neurobiol Aging. 2012. PMID: 21802176
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Koppers M, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ, Veldink JH, van den Berg LH. Koppers M, et al. Among authors: van blitterswijk mm, van der pol wl, van der kooi aj, van den berg lh, van vught pw. Neurobiol Aging. 2012 Apr;33(4):837.e7-13. doi: 10.1016/j.neurobiolaging.2011.10.006. Epub 2011 Nov 10. Neurobiol Aging. 2012. PMID: 22078486
214 results