Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
I Gijselinck, J van der Zee, S Engelborghs, D Goossens, K Peeters, M Mattheijssens, E Corsmit, J Del-Favero, P P De Deyn, C Van Broeckhoven, M Crut. Progranulin locus deletion in frontotemporal dementia. Human mutation. vol 29. issue 1. 2008-02-06. PMID:18157829. |
ubiquitin-positive, tau-negative, frontotemporal dementia (ftd) is caused by null mutations in progranulin (pgrn; hugo gene symbol grn), suggesting a haploinsufficiency mechanism. |
2008-02-06 |
2023-08-12 |
Not clear |
A C Bruni, P Momeni, L Bernardi, C Tomaino, F Frangipane, J Elder, T Kawarai, C Sato, S Pradella, Y Wakutani, M Anfossi, M Gallo, S Geracitano, A Costanzo, N Smirne, S A M Curcio, M Mirabelli, G Puccio, R Colao, R G Maletta, A Kertesz, P St George-Hyslop, J Hardy, E Rogaev. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology. vol 69. issue 2. 2007-08-13. PMID:17620546. |
frontotemporal dementia (ftd) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (grn). |
2007-08-13 |
2023-08-12 |
Not clear |
J B Leverenz, C E Yu, T J Montine, E Steinbart, L M Bekris, C Zabetian, L K Kwong, V M-Y Lee, G D Schellenberg, T D Bir. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain : a journal of neurology. vol 130. issue Pt 5. 2007-05-31. PMID:17439980. |
mutations in the progranulin (grn) gene have recently been reported as a cause of the frontotemporal dementia (ftd) syndrome. |
2007-05-31 |
2023-08-12 |
Not clear |
Julie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, Sebastiaan Engelborghs, Ilse Gijselinck, Agnès Camuzat, Nathalie Brouwers, Rik Vandenberghe, Kristel Sleegers, Didier Hannequin, Bart Dermaut, Joost Schymkowitz, Dominique Campion, Patrick Santens, Jean-Jacques Martin, Lucette Lacomblez, Tim De Pooter, Karin Peeters, Maria Mattheijssens, Martine Vercelletto, Marleen Van den Broeck, Marc Cruts, Peter P De Deyn, Frederic Rousseau, Alexis Brice, Christine Van Broeckhove. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Human mutation. vol 28. issue 4. 2007-05-01. PMID:17345602. |
null mutations in the progranulin gene (grn, pgrn) were recently identified as the causal mechanism underlying frontotemporal dementia (ftd) with ubiquitin-positive brain pathology linked to chromosome 17 (ftdu-17). |
2007-05-01 |
2023-08-12 |
Not clear |