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Items: 1 to 20 of 248

1.

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C.

Nature. 2006 Aug 24;442(7105):920-4. Epub 2006 Jul 16.

PMID:
16862115
2.

Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Cruts M, Kumar-Singh S, Van Broeckhoven C.

Curr Alzheimer Res. 2006 Dec;3(5):485-91. Review.

PMID:
17168647
3.

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M.

Nature. 2006 Aug 24;442(7105):916-9. Epub 2006 Jul 16.

PMID:
16862116
4.

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A; French Research Network on FTD/FTD-MND.

Hum Mutat. 2007 Sep;28(9):846-55.

PMID:
17436289
5.

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K.

Arch Neurol. 2007 Oct;64(10):1436-46.

PMID:
17923627
6.

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.

Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.

Hum Mol Genet. 2005 Jul 1;14(13):1753-62. Epub 2005 May 11.

7.

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.

Hum Mutat. 2007 Apr;28(4):416.

PMID:
17345602
9.

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.

Hum Mutat. 2008 Jan;29(1):53-8.

PMID:
18157829
10.

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation.

Skoglund L, Brundin R, Olofsson T, Kalimo H, Ingvast S, Blom ES, Giedraitis V, Ingelsson M, Lannfelt L, Basun H, Glaser A.

Neurogenetics. 2009 Feb;10(1):27-34. doi: 10.1007/s10048-008-0155-z. Epub 2008 Oct 15.

PMID:
18855025
11.

Clinicopathologic correlation in PGRN mutations.

Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH.

Neurology. 2007 Sep 11;69(11):1113-21. Epub 2007 May 23.

12.

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.

Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW.

J Neuropathol Exp Neurol. 2007 Feb;66(2):142-51.

13.

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.

Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM.

Ann Neurol. 2006 Sep;60(3):314-22.

14.

Progranulin genetic variability contributes to amyotrophic lateral sclerosis.

Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C.

Neurology. 2008 Jul 22;71(4):253-9. doi: 10.1212/01.wnl.0000289191.54852.75. Epub 2008 Jan 9.

PMID:
18184915
15.

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.

Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AM, Varma A, Neary D, Mann DM.

Brain. 2006 Nov;129(Pt 11):3091-102. Epub 2006 Sep 26.

16.

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B.

Brain. 2006 Apr;129(Pt 4):841-52. Epub 2006 Feb 22.

17.

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G.

Neurobiol Dis. 2009 Mar;33(3):379-85. doi: 10.1016/j.nbd.2008.11.008. Epub 2008 Dec 6.

PMID:
19101631
18.

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R.

Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. Epub 2006 Sep 1.

19.

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.

Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Costanzo A, Colao R, Puccio G, Frangipane F, Curcio SA, Mirabelli M, Smirne N, Iapaolo D, Maletta RG, Bruni AC.

Neurobiol Aging. 2009 Nov;30(11):1825-33. doi: 10.1016/j.neurobiolaging.2008.01.005. Epub 2008 Mar 7.

PMID:
18314228
20.

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC.

Brain. 2001 Oct;124(Pt 10):1948-57.

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