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Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.
Capell A, Liebscher S, Fellerer K, Brouwers N, Willem M, Lammich S, Gijselinck I, Bittner T, Carlson AM, Sasse F, Kunze B, Steinmetz H, Jansen R, Dormann D, Sleegers K, Cruts M, Herms J, Van Broeckhoven C, Haass C. Capell A, et al. Among authors: gijselinck i. J Neurosci. 2011 Feb 2;31(5):1885-94. doi: 10.1523/JNEUROSCI.5757-10.2011. J Neurosci. 2011. PMID: 21289198 Free PMC article.
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. van der Zee J, et al. Among authors: gijselinck i. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484. Hum Mutat. 2007. PMID: 17345602
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K, Brouwers N, Van Damme P, Engelborghs S, Gijselinck I, van der Zee J, Peeters K, Mattheijssens M, Cruts M, Vandenberghe R, De Deyn PP, Robberecht W, Van Broeckhoven C. Sleegers K, et al. Among authors: gijselinck i. Ann Neurol. 2009 May;65(5):603-9. doi: 10.1002/ana.21621. Ann Neurol. 2009. PMID: 19288468
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D. Mori K, et al. Among authors: gijselinck i. Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. Acta Neuropathol. 2013. PMID: 24132570
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. Hum Mutat. 2008 Jan;29(1):53-8. doi: 10.1002/humu.20651. Hum Mutat. 2008. PMID: 18157829
Genetic contribution of FUS to frontotemporal lobar degeneration.
Van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C. Van Langenhove T, et al. Among authors: gijselinck i. Neurology. 2010 Feb 2;74(5):366-71. doi: 10.1212/WNL.0b013e3181ccc732. Neurology. 2010. PMID: 20124201
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: gijselinck i. Neurology. 2008 Aug 26;71(9):656-64. doi: 10.1212/01.wnl.0000319688.89790.7a. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565828
36 results