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PRRT2 mutations: exploring the phenotypical boundaries.
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
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
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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
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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
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Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype.
De Jonghe C, Cras P, Vanderstichele H, Cruts M, Vanderhoeven I, Smouts I, Vanmechelen E, Martin JJ, Hendriks L, Van Broeckhoven C.
De Jonghe C, et al. Among authors: smouts i.
Neurobiol Dis. 1999 Aug;6(4):280-7. doi: 10.1006/nbdi.1999.0247.
Neurobiol Dis. 1999.
PMID: 10448055
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