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Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J, Marjaux E, Vandenbulcke M, Van Laere K, Kumar-Singh S, Bormans G, Brouwers N, Van den Broeck M, Vennekens K, Corsmit E, Cruts M, De Strooper B, Van Broeckhoven C, Vandenberghe R. Theuns J, et al. Among authors: van den broeck m, van laere k, van broeckhoven c. Hum Mutat. 2006 Sep;27(9):888-96. doi: 10.1002/humu.20402. Hum Mutat. 2006. PMID: 16917905
Presenilin mutations in Alzheimer's disease.
Cruts M, Van Broeckhoven C. Cruts M, et al. Among authors: van broeckhoven c. 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.
Molecular genetics of Alzheimer's disease.
Cruts M, Van Broeckhoven C. Cruts M, et al. Among authors: van broeckhoven c. Ann Med. 1998 Dec;30(6):560-5. doi: 10.3109/07853899809002605. Ann Med. 1998. PMID: 9920359 Review.
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
Kumar-Singh S, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, Löfgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM, Van Broeckhoven C. Kumar-Singh S, et al. Among authors: van broeckhoven c. Hum Mol Genet. 2000 Nov 1;9(18):2589-98. doi: 10.1093/hmg/9.18.2589. Hum Mol Genet. 2000. PMID: 11063718
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Cruts M, et al. Among authors: van duijn cm, van den broeck m, van broeckhoven c. Hum Mol Genet. 1998 Jan;7(1):43-51. doi: 10.1093/hmg/7.1.43. Hum Mol Genet. 1998. PMID: 9384602
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. De Jonghe C, et al. Among authors: van broeckhoven c. Hum Mol Genet. 1999 Aug;8(8):1529-40. doi: 10.1093/hmg/8.8.1529. Hum Mol Genet. 1999. PMID: 10401002
776 results