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338 results

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Page 1
Progranulin locus deletion in frontotemporal dementia.
Gijselinck I, van der Zee J, Engelborghs S, Goossens D, Peeters K, Mattheijssens M, Corsmit E, Del-Favero J, De Deyn PP, Van Broeckhoven C, Cruts M. Gijselinck I, et al. Among authors: peeters k. Hum Mutat. 2008 Jan;29(1):53-8. doi: 10.1002/humu.20651. Hum Mutat. 2008. PMID: 18157829
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven PF, Fürst DO, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A. Guergueltcheva V, et al. Among authors: peeters k. Neurology. 2011 Dec 13;77(24):2105-14. doi: 10.1212/WNL.0b013e31823dc51e. Epub 2011 Nov 30. Neurology. 2011. PMID: 22131542
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P. Baets J, et al. Among authors: peeters k. Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11. Brain. 2011. PMID: 21840889 Free PMC article.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A. Peeters K, et al. Ann Neurol. 2016 Dec;80(6):823-833. doi: 10.1002/ana.24775. Epub 2016 Sep 30. Ann Neurol. 2016. PMID: 27686364
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C. Brouwers N, et al. Among authors: peeters k. Neurology. 2008 Aug 26;71(9):656-64. doi: 10.1212/01.wnl.0000319688.89790.7a. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565828
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C. van der Zee J, et al. Among authors: peeters k. Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9. Neurology. 2009. PMID: 19704082 Clinical Trial.
Progranulin variability has no major role in Parkinson disease genetic etiology.
Nuytemans K, Pals P, Sleegers K, Engelborghs S, Corsmit E, Peeters K, Pickut B, Mattheijssens M, Cras P, De Deyn PP, Theuns J, Van Broeckhoven C. Nuytemans K, et al. Among authors: peeters k. Neurology. 2008 Oct 7;71(15):1147-51. doi: 10.1212/01.wnl.0000327563.10320.2b. Neurology. 2008. PMID: 18838661
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: peeters k. Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481318 Free PMC article.
338 results