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123 results

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Page 1
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: spliet wg. 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
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.
Groen EJ, van Es MA, van Vught PW, Spliet WG, van Engelen-Lee J, de Visser M, Wokke JH, Schelhaas HJ, Ophoff RA, Fumoto K, Pasterkamp RJ, Dooijes D, Cuppen E, Veldink JH, van den Berg LH. Groen EJ, et al. Among authors: spliet wg. Arch Neurol. 2010 Feb;67(2):224-30. doi: 10.1001/archneurol.2009.329. Arch Neurol. 2010. PMID: 20142531
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, Kirby J, Shaw PJ, Aronica E, Spliet WG, Veldink JH, van den Berg LH, Pasterkamp RJ. Groen EJ, et al. Among authors: spliet wg. Hum Mol Genet. 2013 Sep 15;22(18):3690-704. doi: 10.1093/hmg/ddt222. Epub 2013 May 15. Hum Mol Genet. 2013. PMID: 23681068
Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.
Engelen-Lee J, Blokhuis AM, Spliet WGM, Pasterkamp RJ, Aronica E, Demmers JAA, Broekhuizen R, Nardo G, Bovenschen N, Van Den Berg LH. Engelen-Lee J, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):210-220. doi: 10.1080/21678421.2016.1245757. Epub 2016 Nov 29. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27899032
In vivo detection of cerebral cortical microinfarcts with high-resolution 7T MRI.
van Veluw SJ, Zwanenburg JJ, Engelen-Lee J, Spliet WG, Hendrikse J, Luijten PR, Biessels GJ. van Veluw SJ, et al. Among authors: spliet wg. J Cereb Blood Flow Metab. 2013 Mar;33(3):322-9. doi: 10.1038/jcbfm.2012.196. Epub 2012 Dec 19. J Cereb Blood Flow Metab. 2013. PMID: 23250109 Free PMC article. Clinical Trial.
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.
van der Pol WL, Leijenaar JF, Spliet WG, Lavrijsen SW, Jansen NJ, Braun KP, Mulder M, Timmers-Raaijmakers B, Ratsma K, Dooijes D, van Haelst MM. van der Pol WL, et al. Among authors: spliet wg. Mol Genet Genomic Med. 2014 Mar;2(2):134-7. doi: 10.1002/mgg3.52. Epub 2013 Dec 12. Mol Genet Genomic Med. 2014. PMID: 24689076 Free PMC article.
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Mills JD, et al. Among authors: spliet wg. Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8. Sci Rep. 2017. PMID: 28808237 Free PMC article.
Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.
Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E. Mills JD, et al. Among authors: spliet wg. Sci Rep. 2022 Sep 14;12(1):15457. doi: 10.1038/s41598-022-20109-7. Sci Rep. 2022. PMID: 36104396 Free PMC article. No abstract available.
123 results