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Page 1
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. Ermanoska B, et al. Among authors: de rijk p. Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5. Neurobiol Dis. 2014. PMID: 24807208 Free PMC article.
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: de jonghe p, de rijk p, de vriendt e. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. Kancheva D, et al. Among authors: de rijk p. Genet Med. 2016 Jun;18(6):600-7. doi: 10.1038/gim.2015.139. Epub 2015 Oct 22. Genet Med. 2016. PMID: 26492578 Free 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, p de deyn p, 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.
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.
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Rademakers R, et al. Among authors: de pooter t, de rijk p. Am J Hum Genet. 2005 Oct;77(4):643-52. doi: 10.1086/491749. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175510 Free PMC article.
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML. Rademakers R, et al. Among authors: de deyn pp, de pooter t, de rijk p. Hum Mol Genet. 2005 Nov 1;14(21):3281-92. doi: 10.1093/hmg/ddi361. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195395
105 results