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Page 1
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.
Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. Bogaerts V, et al. Among authors: goossens d. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982
Progranulin locus deletion in frontotemporal dementia.
Gijselinck I, van der Zee J, Engelborghs S, Goossens D, Peeters K, Mattheijssens M, Corsmit E, Del-Favero J, De Deyn PP, Van Broeckhoven C, Cruts M. Gijselinck I, et al. Among authors: goossens d. Hum Mutat. 2008 Jan;29(1):53-8. doi: 10.1002/humu.20651. Hum Mutat. 2008. PMID: 18157829
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: goossens d. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.
Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M. Gijselinck I, et al. Among authors: goossens d. Neurobiol Aging. 2009 Aug;30(8):1329-31. doi: 10.1016/j.neurobiolaging.2007.11.002. Epub 2008 Jan 10. Neurobiol Aging. 2009. PMID: 18068872
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W. Suls A, et al. Among authors: goossens d. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
Theuns J, Crosiers D, Debaene L, Nuytemans K, Meeus B, Sleegers K, Goossens D, Corsmit E, Elinck E, Peeters K, Mattheijssens M, Pickut B, Del-Favero J, Engelborghs S, De Deyn PP, Cras P, Van Broeckhoven C. Theuns J, et al. Among authors: goossens d. Mov Disord. 2012 Sep 15;27(11):1451-6. doi: 10.1002/mds.25147. Epub 2012 Sep 13. Mov Disord. 2012. PMID: 22976901
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Deprez L, et al. Among authors: goossens d. Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf. Neurology. 2010. PMID: 20876469
166 results