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Page 1
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
novoSNP, a novel computational tool for sequence variation discovery.
Weckx S, Del-Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P. Weckx S, et al. Among authors: de jonghe p, de rijk p. Genome Res. 2005 Mar;15(3):436-42. doi: 10.1101/gr.2754005. Genome Res. 2005. PMID: 15741513 Free PMC article.
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.
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.
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.
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, Van Geet C, Van De Ven WJ, Steyaert JG, Devriendt K, Creemers JW. Castermans D, et al. Among authors: de vos r, de rijk p. Hum Mol Genet. 2010 Apr 1;19(7):1368-78. doi: 10.1093/hmg/ddq013. Epub 2010 Jan 12. Hum Mol Genet. 2010. PMID: 20071347
105 results