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Page 1
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. Claes LR, et al. Among authors: smets k. Hum Mutat. 2009 Oct;30(10):E904-20. doi: 10.1002/humu.21083. Hum Mutat. 2009. PMID: 19585586
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. Claes L, et al. Among authors: smets k. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: smets k. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
PRRT2 mutations: exploring the phenotypical boundaries.
Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: smets k. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Among authors: smets k. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 Free PMC article.
Mutations in SACS cause atypical and late-onset forms of ARSACS.
Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Baets J, et al. Among authors: smets k. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J. Smets K, et al. BMC Med Genet. 2015 Jul 21;16:51. doi: 10.1186/s12881-015-0200-3. BMC Med Genet. 2015. PMID: 26189493 Free PMC article.
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Synofzik M, et al. Among authors: smets k. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
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: smets k. Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25. Brain. 2016. PMID: 27016404 Free PMC article.
121 results