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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.
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: van den berg l, van damme p. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.
Rooney J, Fogh I, Westeneng HJ, Vajda A, McLaughlin R, Heverin M, Jones A, van Eijk R, Calvo A, Mazzini L, Shaw C, Morrison K, Shaw PJ, Robberecht W, Van Damme P, Al-Chalabi A, van den Berg L, Chiò A, Veldink J, Hardiman O. Rooney J, et al. Among authors: van den berg l, van eijk r, van damme p. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):281. doi: 10.1136/jnnp-2016-314093. Epub 2016 Sep 23. J Neurol Neurosurg Psychiatry. 2017. PMID: 27663272 Free article.
C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.
De Decker M, Zelina P, Moens TG, Beckers J, Contardo M, Dittlau KS, Van Schoor E, Ronisz A, Eggermont K, Moisse M, Chandran S, Veldink JH, Thal DR, Van Den Bosch L, Pasterkamp RJ, Van Damme P. De Decker M, et al. Among authors: van damme p. Brain. 2024 Dec 20:awae331. doi: 10.1093/brain/awae331. Online ahead of print. Brain. 2024. PMID: 39703094
Diagnosing primary lateral sclerosis: a clinico-pathological study.
de Boer EMJ, de Vries BS, Van Hecke W, Mühlebner A, Vincken KL, Mol CP, van Rheenen W, Westeneng HJ, Veldink JH, Höglinger GU, Morris HR, Litvan I, Raaphorst J, Ticozzi N, Corcia P, Vandenberghe W, Pijnenburg YAL, Seelaar H, Ingre C, Van Damme P, van den Berg LH, van de Warrenburg BPC, van Es MA. de Boer EMJ, et al. Among authors: van damme p. J Neurol. 2024 Dec 12;272(1):46. doi: 10.1007/s00415-024-12816-0. J Neurol. 2024. PMID: 39666071
Amygdala-predominant α-synuclein pathology is associated with exacerbated hippocampal neuron loss in Alzheimer's disease.
Gawor K, Tomé SO, Vandenberghe R, Van Damme P, Vandenbulcke M, Otto M, von Arnim CAF, Ghebremedhin E, Ronisz A, Ospitalieri S, Blaschko M, Thal DR. Gawor K, et al. Among authors: van damme p. Brain Commun. 2024 Dec 5;6(6):fcae442. doi: 10.1093/braincomms/fcae442. eCollection 2024. Brain Commun. 2024. PMID: 39659977 Free PMC article.
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B, Vural A, Topp S, Campos Y, Weber M, Smith B, Dobson R, van Es MA, Vourc'h P, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Mill J, Garton F, McRae A, Wray NR, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Van Damme P, McLaughlin RL, van den Berg LH, Veldink JH, Al-Chalabi A, Al Khleifat A. Grant OA, et al. Among authors: van damme p. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624866. doi: 10.1101/2024.11.22.624866. bioRxiv. 2024. PMID: 39651197 Free PMC article. Preprint.
1,258 results