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314 results

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Page 1
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: cuppen e. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378146
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.
Groen EJ, van Es MA, van Vught PW, Spliet WG, van Engelen-Lee J, de Visser M, Wokke JH, Schelhaas HJ, Ophoff RA, Fumoto K, Pasterkamp RJ, Dooijes D, Cuppen E, Veldink JH, van den Berg LH. Groen EJ, et al. Among authors: cuppen e. Arch Neurol. 2010 Feb;67(2):224-30. doi: 10.1001/archneurol.2009.329. Arch Neurol. 2010. PMID: 20142531
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, Van Damme P, Lemmens R, Dahlberg C, Birve A, Fernández-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EA, Cuppen E, Berg D, Brown RH Jr, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PI, Landers JE, van de Warrenburg BP, van den Berg LH. van Es MA, et al. Among authors: cuppen e. Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Ann Neurol. 2011. PMID: 22190368 Free PMC article. Review.
Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: cuppen e. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
SMN1 gene duplications are associated with sporadic ALS.
Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. Blauw HM, et al. Among authors: cuppen e. Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323753 Free PMC article.
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E. Middelkamp S, et al. Among authors: cuppen e. Genome Med. 2017 Jan 26;9(1):9. doi: 10.1186/s13073-017-0399-z. Genome Med. 2017. PMID: 28126037 Free PMC article.
Haplotype block structure is conserved across mammals.
Guryev V, Smits BM, van de Belt J, Verheul M, Hubner N, Cuppen E. Guryev V, et al. Among authors: cuppen e. PLoS Genet. 2006 Jul;2(7):e121. doi: 10.1371/journal.pgen.0020121. PLoS Genet. 2006. PMID: 16895449 Free PMC article.
Diversity of microRNAs in human and chimpanzee brain.
Berezikov E, Thuemmler F, van Laake LW, Kondova I, Bontrop R, Cuppen E, Plasterk RH. Berezikov E, et al. Among authors: cuppen e. Nat Genet. 2006 Dec;38(12):1375-7. doi: 10.1038/ng1914. Epub 2006 Oct 29. Nat Genet. 2006. PMID: 17072315
314 results