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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
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.
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. Nelis E, et al. Among authors: van broeckhoven c. Neuromuscul Disord. 2002 Nov;12(9):869-73. doi: 10.1016/s0960-8966(02)00046-9. Neuromuscul Disord. 2002. PMID: 12398840 Clinical Trial.
776 results