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Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B. van den Ameele J, et al. Among authors: ceuterick de groote c. Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19. Neurology. 2018. PMID: 29352102
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.
van der Zee J, Mariën P, Crols R, Van Mossevelde S, Dillen L, Perrone F, Engelborghs S, Verhoeven J, D'aes T, Ceuterick-De Groote C, Sieben A, Versijpt J, Cras P, Martin JJ, Van Broeckhoven C. van der Zee J, et al. Among authors: ceuterick de groote c. Neurol Genet. 2016 Sep 16;2(5):e102. doi: 10.1212/NXG.0000000000000102. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27668283 Free PMC article.
Fabry disease in a patient with Turner syndrome.
Brouns R, Eyskens F, De Boeck K, Ceuterick-de Groote C, Van den Broeck M, Van Broeckhoven C, De Deyn PP. Brouns R, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S45-8. doi: 10.1007/s10545-009-1035-x. Epub 2009 Apr 5. J Inherit Metab Dis. 2009. PMID: 19343533
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH. Denora PS, et al. Among authors: ceuterick de groote c. Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25. Brain. 2016. PMID: 27016404 Free PMC article.
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. Bouhy D, et al. Among authors: ceuterick de groote c. Acta Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0. Epub 2017 Aug 5. Acta Neuropathol. 2018. PMID: 28780615 Free PMC article.
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
De Brabander I, Yperzeele L, Ceuterick-De Groote C, Brouns R, Baker R, Belachew S, Delbecq J, De Keulenaer G, Dethy S, Eyskens F, Fumal A, Hemelsoet D, Hughes D, Jeangette S, Nuytten D, Redondo P, Sadzot B, Sindic C, Sheorajpanday R, Thijs V, Van Broeckhoven C, De Deyn PP. De Brabander I, et al. Clin Neurol Neurosurg. 2013 Jul;115(7):1088-93. doi: 10.1016/j.clineuro.2012.11.003. Epub 2012 Dec 4. Clin Neurol Neurosurg. 2013. PMID: 23219219
35 results