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NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
De Roeck A, De Coster W, Bossaerts L, Cacace R, De Pooter T, Van Dongen J, D'Hert S, De Rijk P, Strazisar M, Van Broeckhoven C, Sleegers K. De Roeck A, et al. Among authors: de coster w, de pooter t, de rijk p. Genome Biol. 2019 Nov 14;20(1):239. doi: 10.1186/s13059-019-1856-3. Genome Biol. 2019. PMID: 31727106 Free PMC article.
A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42.
Sleegers K, Bettens K, De Roeck A, Van Cauwenberghe C, Cuyvers E, Verheijen J, Struyfs H, Van Dongen J, Vermeulen S, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Van Broeckhoven C; BELNEU consortium. Sleegers K, et al. Among authors: de roeck a, de deyn pp. Alzheimers Dement. 2015 Dec;11(12):1452-1460. doi: 10.1016/j.jalz.2015.02.013. Epub 2015 Jun 15. Alzheimers Dement. 2015. PMID: 26086184 Free article.
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S, Mattheijssens M, Peeters K, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K. Cuyvers E, et al. Among authors: de roeck a, de deyn pp. Lancet Neurol. 2015 Aug;14(8):814-822. doi: 10.1016/S1474-4422(15)00133-7. Epub 2015 Jun 30. Lancet Neurol. 2015. PMID: 26141617
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, Van Cauwenberghe C, Vermeulen S, Van den Broeck M, Laureys A, Peeters K, Mattheijssens M, Vandenbulcke M, Vandenberghe R, Martin JJ, De Deyn PP, Cras P, Van Broeckhoven C; Belgian Neurology Consortium. Van den Bossche T, et al. Among authors: de roeck a, de deyn pp. Neurology. 2016 Jun 7;86(23):2126-33. doi: 10.1212/WNL.0000000000002628. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037232 Free PMC article.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: de deyn p, de coster w, de mendonca a. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
De Roeck A, Duchateau L, Van Dongen J, Cacace R, Bjerke M, Van den Bossche T, Cras P, Vandenberghe R, De Deyn PP, Engelborghs S, Van Broeckhoven C, Sleegers K; BELNEU Consortium. De Roeck A, et al. Among authors: de deyn pp. Acta Neuropathol. 2018 Jun;135(6):827-837. doi: 10.1007/s00401-018-1841-z. Epub 2018 Mar 27. Acta Neuropathol. 2018. PMID: 29589097 Free PMC article.
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
Cacace R, Heeman B, Van Mossevelde S, De Roeck A, Hoogmartens J, De Rijk P, Gossye H, De Vos K, De Coster W, Strazisar M, De Baets G, Schymkowitz J, Rousseau F, Geerts N, De Pooter T, Peeters K, Sieben A, Martin JJ, Engelborghs S, Salmon E, Santens P, Vandenberghe R, Cras P, P De Deyn P, C van Swieten J, M van Duijn C, van der Zee J, Sleegers K, Van Broeckhoven C; BELNEU Consortium. Cacace R, et al. Among authors: de roeck a, de coster w, de pooter t, de baets g, de rijk p, de vos k. Acta Neuropathol. 2019 Jun;137(6):901-918. doi: 10.1007/s00401-019-01976-3. Epub 2019 Mar 14. Acta Neuropathol. 2019. PMID: 30874922 Free PMC article.
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F, Bjerke M, Hens E, Sieben A, Timmers M, De Roeck A, Vandenberghe R, Sleegers K, Martin JJ, De Deyn PP, Engelborghs S, van der Zee J, Van Broeckhoven C, Cacace R; BELNEU Consortium. Perrone F, et al. Among authors: de roeck a, de deyn pp. Alzheimers Res Ther. 2020 Sep 11;12(1):108. doi: 10.1186/s13195-020-00676-5. Alzheimers Res Ther. 2020. PMID: 32917274 Free PMC article.
339 results