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Page 1
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.
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
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.
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
Identification of Srp9 as a febrile seizure susceptibility gene.
Hessel EV, de Wit M, Wolterink-Donselaar IG, Karst H, de Graaff E, van Lith HA, de Bruijn E, de Sonnaville S, Verbeek NE, Lindhout D, de Kovel CG, Koeleman BP, van Kempen M, Brilstra E, Cuppen E, Loos M, Spijker SS, Kan AA, Baars SE, van Rijen PC, Gosselaar PH, Groot Koerkamp MJ, Holstege FC, van Duijn C, Vergeer J, Moll HA, Taubøll E, Heuser K, Ramakers GM, Pasterkamp RJ, van Nieuwenhuizen O, Hoogenraad CC, Kas MJ, de Graan PN. Hessel EV, et al. Among authors: cuppen e. Ann Clin Transl Neurol. 2014 Apr;1(4):239-50. doi: 10.1002/acn3.48. Epub 2014 Mar 12. Ann Clin Transl Neurol. 2014. PMID: 25590037 Free PMC article.
Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations.
Harakalova M, Nijman IJ, Medic J, Mokry M, Renkens I, Blankensteijn JD, Kloosterman W, Baas AF, Cuppen E. Harakalova M, et al. Among authors: cuppen e. J Cardiovasc Transl Res. 2011 Jun;4(3):271-80. doi: 10.1007/s12265-011-9263-5. Epub 2011 Mar 1. J Cardiovasc Transl Res. 2011. PMID: 21360310 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.
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, Janssen R, de la Fonteijne L, van Binsbergen E, van Roosmalen MJ, Hochstenbach R, Giachino D, Talkowski ME, Kloosterman WP, Cuppen E. Middelkamp S, et al. Among authors: cuppen e. Genome Med. 2019 Dec 4;11(1):79. doi: 10.1186/s13073-019-0692-0. Genome Med. 2019. PMID: 31801603 Free PMC article.
311 results