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Page 1
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Among authors: van t veer lj, van de warrenburg bp, van rijn ma, van der knaap ms, de groot r, de groot ij, van deuren m. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Paramedical treatment in primary dystonia: a systematic review.
Delnooz CC, Horstink MW, Tijssen MA, van de Warrenburg BP. Delnooz CC, et al. Among authors: van de warrenburg bp. Mov Disord. 2009 Nov 15;24(15):2187-98. doi: 10.1002/mds.22608. Mov Disord. 2009. PMID: 19839012 Review.
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, van Hilten JJ, Schuurman PR, Speelman JD, Koelman JH, de Bie RM, Baas F, Tijssen MA. Groen JL, et al. Among authors: van hilten jj, de bie rm, van de warrenburg bp. Mov Disord. 2010 Oct 30;25(14):2420-7. doi: 10.1002/mds.23285. Mov Disord. 2010. PMID: 20687191
Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature.
de Hosson LD, van de Warrenburg BP, Preijers FW, Blijlevens NM, van der Reijden BA, Kremer HP, Lefeber DJ, Allebes WA, Al-Ali H, Niederwieser DW, Schaap NP, Schattenberg AV. de Hosson LD, et al. Among authors: van der reijden ba, van de warrenburg bp. Bone Marrow Transplant. 2011 Aug;46(8):1071-6. doi: 10.1038/bmt.2010.252. Epub 2010 Nov 1. Bone Marrow Transplant. 2011. PMID: 21042305 Review.
Phenotypes and genetic architecture of focal primary torsion dystonia.
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA. Groen JL, et al. Among authors: van hilten jj, van de warrenburg bp. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1006-11. doi: 10.1136/jnnp-2012-302729. Epub 2012 Jul 8. J Neurol Neurosurg Psychiatry. 2012. PMID: 22773857
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL, van der Heijden CD, de Bot ST, den Dunnen WF, van den Berg LH, Verschuuren-Bemelmans CC, Kremer HP, Veldink JH, Kamsteeg EJ, Scheffer H, van de Warrenburg BP. van Gassen KL, et al. Among authors: van der heijden cd, van den berg lh, van de warrenburg bp, de bot st. Brain. 2012 Oct;135(Pt 10):2994-3004. doi: 10.1093/brain/aws224. Epub 2012 Sep 10. Brain. 2012. PMID: 22964162
Reviewing the genetic causes of spastic-ataxias.
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. de Bot ST, et al. Among authors: van de warrenburg bp. Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Neurology. 2012. PMID: 23033504 Review.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: van de warrenburg bp. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007
381 results