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Page 1
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: heutink p. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Among authors: heutink p. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.
Bertoli-Avella AM, Dekker MC, Aulchenko YS, Houwing-Duistermaat JJ, Simons E, Testers L, Pardo LM, Rademaker TA, Snijders PJ, van Swieten JC, Bonifati V, Heutink P, van Duijn CM, Oostra BA. Bertoli-Avella AM, et al. Among authors: heutink p. Hum Genet. 2006 Mar;119(1-2):51-60. doi: 10.1007/s00439-005-0108-7. Epub 2005 Dec 14. Hum Genet. 2006. PMID: 16369765
Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
Bronner IF, Rizzu P, Seelaar H, van Mil SE, Anar B, Azmani A, Donker Kaat L, Rosso S, Heutink P, van Swieten JC. Bronner IF, et al. Among authors: heutink p. Eur J Hum Genet. 2007 Mar;15(3):369-74. doi: 10.1038/sj.ejhg.5201772. Epub 2007 Jan 17. Eur J Hum Genet. 2007. PMID: 17228326
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
Liu F, Arias-Vásquez A, Sleegers K, Aulchenko YS, Kayser M, Sanchez-Juan P, Feng BJ, Bertoli-Avella AM, van Swieten J, Axenovich TI, Heutink P, van Broeckhoven C, Oostra BA, van Duijn CM. Liu F, et al. Among authors: heutink p. Am J Hum Genet. 2007 Jul;81(1):17-31. doi: 10.1086/518720. Epub 2007 May 29. Am J Hum Genet. 2007. PMID: 17564960 Free PMC article.
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration.
Rollinson S, Rizzu P, Sikkink S, Baker M, Halliwell N, Snowden J, Traynor BJ, Ruano D, Cairns N, Rohrer JD, Mead S, Collinge J, Rossor M, Akay E, Guerreiro R, Rademakers R, Morrison KE, Pastor P, Alonso E, Martinez-Lage P, Graff-Radford N, Neary D, Heutink P, Mann DM, Van Swieten J, Pickering-Brown SM. Rollinson S, et al. Among authors: heutink p. Neurobiol Aging. 2009 Apr;30(4):656-65. doi: 10.1016/j.neurobiolaging.2009.01.009. Epub 2009 Feb 12. Neurobiol Aging. 2009. PMID: 19217189 Free PMC article.
382 results