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Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck MV, Serneels S, Corsmit E, Van Broeckhoven CV, Cruts M. Theuns J, et al. Among authors: van duijn cm, van broeckhoven cv, van den broeck mv. Hum Mol Genet. 2000 Feb 12;9(3):325-31. doi: 10.1093/hmg/9.3.325. Hum Mol Genet. 2000. PMID: 10655540 Free article.
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: van broeckhoven c. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. Lambrechts D, et al. Among authors: van marion i, van broeckhoven c. Nat Genet. 2003 Aug;34(4):383-94. doi: 10.1038/ng1211. Nat Genet. 2003. PMID: 12847526 Free article.
Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study.
Oswald P, Souery D, Massat I, Del-Favero J, Linotte S, Papadimitriou G, Dikeos D, Kaneva R, Milanova V, Oruc L, Ivezic S, Serretti A, Lilli R, Van Broeckhoven C, Mendlewicz J. Oswald P, et al. Among authors: van broeckhoven c. Eur Neuropsychopharmacol. 2003 Oct;13(5):365-8. doi: 10.1016/s0924-977x(03)00041-5. Eur Neuropsychopharmacol. 2003. PMID: 12957335
Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder.
Mendlewicz J, Souery D, Del-Favero J, Massat I, Lindblad K, Engström C, Van den Bossche D, Adolfsson R, Schalling M, Van Broeckhoven C. Mendlewicz J, et al. Among authors: van den bossche d, van broeckhoven c. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):71-5. doi: 10.1002/ajmg.b.20006. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15211635
779 results