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Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.
Philtjens S, Van Mossevelde S, van der Zee J, Wauters E, Dillen L, Vandenbulcke M, Vandenberghe R, Ivanoiu A, Sieben A, Willems C, Benussi L, Ghidoni R, Binetti G, Borroni B, Padovani A, Pastor P, Diez-Fairen M, Aguilar M, de Mendonça A, Miltenberger-Miltényi G, Hernández I, Boada M, Ruiz A, Nacmias B, Sorbi S, Almeida MR, Santana I, Clarimón J, Lleó A, Frisoni GB, Sanchez-Valle R, Lladó A, Gómez-Tortosa E, Gelpi E, Van den Broeck M, Peeters K, Cras P, De Deyn PP, Engelborghs S, Cruts M, Van Broeckhoven C; BELNEU Consortium; EU EOD Consortium. Philtjens S, et al. Among authors: cruts m. Neurobiol Aging. 2018 Jun;66:181.e3-181.e10. doi: 10.1016/j.neurobiolaging.2018.02.011. Epub 2018 Feb 17. Neurobiol Aging. 2018. PMID: 29555433 Free article.
Dinucleotide repeat polymorphism at the D21S258 locus.
Wehnert A, Cruts M, Backhovens H, Delabar JM, Thomas G, Van Broeckhoven C. Wehnert A, et al. Among authors: cruts m. Hum Mol Genet. 1992 Sep;1(6):449. doi: 10.1093/hmg/1.6.449. Hum Mol Genet. 1992. PMID: 1339475 No abstract available.
Presenilin mutations in Alzheimer's disease.
Cruts M, Van Broeckhoven C. Cruts M, et al. Hum Mutat. 1998;11(3):183-90. doi: 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9521418 Review.
173 results