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Page 1
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.
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
Changes in vascular density in resected tissue of 97 patients with mild malformation of cortical development, focal cortical dysplasia or TSC-related cortical tubers.
Veersema TJ, de Neef A, van Scheppingen J, Ferrier CH, van Eijsden P, Gosselaar PH, van Rijen PC, Spliet WGM, Braun KPJ, Mühlebner A, Aronica E. Veersema TJ, et al. Int J Dev Neurosci. 2019 Dec;79:96-104. doi: 10.1016/j.ijdevneu.2019.11.003. Epub 2019 Nov 23. Int J Dev Neurosci. 2019. PMID: 31770571
Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression.
Mühlebner A, Iyer AM, van Scheppingen J, Anink JJ, Jansen FE, Veersema TJ, Braun KP, Spliet WG, van Hecke W, Söylemezoğlu F, Feucht M, Krsek P, Zamecnik J, Bien CG, Polster T, Coras R, Blümcke I, Aronica E. Mühlebner A, et al. Among authors: spliet wg. J Neurodev Disord. 2016 Apr 1;8:9. doi: 10.1186/s11689-016-9142-0. eCollection 2016. J Neurodev Disord. 2016. PMID: 27042238 Free PMC article.
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
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