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Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia.
Veenhuis SJG, Gupta AS, de Gusmão CM, Thornton J, Margus B, Rothblum-Oviatt C, Otto M, Halbgebauer S, van Os NJH, van de Warrenburg BPC, Verbeek MM, Willemsen MAAP. Veenhuis SJG, et al. Among authors: van os njh, de gusmao cm, van de warrenburg bpc. Eur J Paediatr Neurol. 2021 May;32:93-97. doi: 10.1016/j.ejpn.2021.04.002. Epub 2021 Apr 9. Eur J Paediatr Neurol. 2021. PMID: 33878608 Free article.
Child neurology: hereditary spastic paraplegia in children.
de Bot ST, van de Warrenburg BP, Kremer HP, Willemsen MA. de Bot ST, et al. Neurology. 2010 Nov 9;75(19):e75-9. doi: 10.1212/WNL.0b013e3181fc2776. Neurology. 2010. PMID: 21060088 Review. No abstract available.
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. Jacobi H, et al. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S, van de Warrenburg BP, Willemsen MA, Cluitmans M, Scheffer H, Kremer BP, Knoers NV. Vermeer S, et al. J Med Genet. 2011 Oct;48(10):651-9. doi: 10.1136/jmedgenet-2011-100210. Epub 2011 Aug 19. J Med Genet. 2011. PMID: 21856962 Review.
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. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
351 results