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1999 1
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2013 1
2014 2
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Page 1
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: smouts i. 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
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P. Verhoeven K, et al. Among authors: smouts i. Neurology. 2004 Mar 23;62(6):1001-2. doi: 10.1212/01.wnl.0000115388.10828.5c. Neurology. 2004. PMID: 15037712
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, Wang S, Taroni F, Di Bella D, Van Hecke W, Parizel PM, Jadoul C, De Potter R, Couvreur F, Rugarli E, De Jonghe P. Smets K, et al. Among authors: smouts i. Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9. Neurology. 2014. PMID: 24814845
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. Suls A, et al. Among authors: smouts i. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694