-
1
-
-
0028223015
-
Clinical and neuropathological criteria for frontotemporal dementia
-
The Lund and Manchester Groups
-
(1994) Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. Journal of neurology, neurosurgery, and psychiatry 57:416-418
-
(1994)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.57
, pp. 416-418
-
-
-
2
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
DOI 10.1038/nature05016, PII NATURE05016
-
M Baker IR Mackenzie SM Pickering-Brown J Gass R Rademakers C Lindholm J Snowden J Adamson AD Sadovnick S Rollinson A Cannon E Dwosh D Neary S Melquist A Richardson D Dickson Z Berger J Eriksen T Robinson C Zehr CA Dickey R Crook E McGowan D Mann B Boeve H Feldman M Hutton 2006 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 916 919 10.1038/nature05016 1:CAS:528:DC%2BD28XosVOgurc%3D 16862116 (Pubitemid 44285946)
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
3
-
-
33947189591
-
Neuropathologic heterogeneity in HDDD1: A familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation
-
DOI 10.1097/WAD.0b013e31803083f2, PII 0000209320070100000001
-
MI Behrens O Mukherjee PH Tu RM Liscic LT Grinberg D Carter K Paulsmeyer L Taylor-Reinwald M Gitcho JB Norton S Chakraverty AM Goate JC Morris NJ Cairns 2007 Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation Alzheimer Dis Assoc Disord 21 1 7 10.1097/WAD.0b013e31803083f2 17334266 (Pubitemid 46398949)
-
(2007)
Alzheimer Disease and Associated Disorders
, vol.21
, Issue.1
, pp. 1-7
-
-
Behrens, M.I.1
Mukherjee, O.2
Tu, P.-H.3
Liscic, R.M.4
Grinberg, L.T.5
Carter, D.6
Paulsmeyer, K.7
Taylor-Reinwald, L.8
Gitcho, M.9
Norton, J.B.10
Chakraverty, S.11
Goate, A.M.12
Morris, J.C.13
Cairns, N.J.14
-
4
-
-
1842715120
-
Rapid Detection of Subtelomeric Deletion/Duplication by Novel Real-Time Quantitative PCR Using SYBR-Green Dye
-
DOI 10.1002/humu.20011
-
D Boehm S Herold A Kuechler T Liehr F Laccone 2004 Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye Hum Mutat 23 368 378 10.1002/humu.20011 1:CAS:528: DC%2BD2cXjslGrs7g%3D 15024731 (Pubitemid 38461518)
-
(2004)
Human Mutation
, vol.23
, Issue.4
, pp. 368-378
-
-
Boehm, D.1
Herold, S.2
Kuechler, A.3
Liehr, T.4
Laccone, F.5
-
5
-
-
21144446437
-
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
-
10.1136/jmg.2004.019901 1:STN:280:DC%2BD2cvjslajsw%3D%3D 15342710
-
W Borozdin D Boehm M Leipoldt C Wilhelm W Reardon J Clayton-Smith K Becker H Muhlendyck R Winter O Giray F Silan J Kohlhase 2004 SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism J Med Genet 41 e113 10.1136/jmg.2004.019901 1:STN:280:DC%2BD2cvjslajsw%3D%3D 15342710
-
(2004)
J Med Genet
, vol.41
, pp. 113
-
-
Borozdin, W.1
Boehm, D.2
Leipoldt, M.3
Wilhelm, C.4
Reardon, W.5
Clayton-Smith, J.6
Becker, K.7
Muhlendyck, H.8
Winter, R.9
Giray, O.10
Silan, F.11
Kohlhase, J.12
-
6
-
-
46149083470
-
Progranulin genetic variations in frontotemporal lobar degeneration: Evidence for low mutation frequency in an Italian clinical series
-
10.1007/s10048-008-0127-3 18392865
-
B Borroni S Archetti A Alberici C Agosti M Gennarelli B Bigni C Bonvicini M Ferrari G Bellelli D Galimberti E Scarpini D Di Lorenzo L Caimi C Caltagirone M Di Luca A Padovani 2008 Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series Neurogenetics 9 197 205 10.1007/s10048-008-0127-3 18392865
-
(2008)
Neurogenetics
, vol.9
, pp. 197-205
-
-
Borroni, B.1
Archetti, S.2
Alberici, A.3
Agosti, C.4
Gennarelli, M.5
Bigni, B.6
Bonvicini, C.7
Ferrari, M.8
Bellelli, G.9
Galimberti, D.10
Scarpini, E.11
Di Lorenzo, D.12
Caimi, L.13
Caltagirone, C.14
Di Luca, M.15
Padovani, A.16
-
7
-
-
33847183187
-
Progranulin mutations in Dutch familial frontotemporal lobar degeneration
-
DOI 10.1038/sj.ejhg.5201772, PII 5201772
-
IF Bronner P Rizzu H Seelaar SE van Mil B Anar A Azmani LD Kaat S Rosso P Heutink JC van Swieten 2007 Progranulin mutations in Dutch familial frontotemporal lobar degeneration Eur J Hum Genet 15 369 374 10.1038/sj.ejhg.5201772 1:CAS:528:DC%2BD2sXhvF2is7g%3D 17228326 (Pubitemid 46306534)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.3
, pp. 369-374
-
-
Bronner, I.F.1
Rizzu, P.2
Seelaar, H.3
Van Mil, S.E.4
Anar, B.5
Azmani, A.6
Kaat, L.D.7
Rosso, S.8
Heutink, P.9
Van Swieten, J.C.10
-
8
-
-
34447340657
-
Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation
-
DOI 10.1212/01.wnl.0000265220.64396.b4, PII 0000611420070710000004
-
AC 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 SA Curcio M Mirabelli G Puccio R Colao RG Maletta A Kertesz P St George-Hyslop J Hardy E Rogaeva 2007 Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation Neurology 69 140 147 10.1212/01.wnl. 0000265220.64396.b4 1:STN:280:DC%2BD2svgt1Ogsg%3D%3D 17620546 (Pubitemid 47051718)
-
(2007)
Neurology
, vol.69
, Issue.2
, pp. 140-147
-
-
Bruni, A.C.1
Momeni, P.2
Bernardi, L.3
Tomaino, C.4
Frangipane, F.5
Elder, J.6
Kawarai, T.7
Sato, C.8
Pradella, S.9
Wakutani, Y.10
Anfossi, M.11
Gallo, M.12
Geracitano, S.13
Costanzo, A.14
Smirne, N.15
Curcio, S.A.M.16
Mirabelli, M.17
Puccio, G.18
Colao, R.19
Maletta, R.G.20
Kertesz, A.21
St. George-Hyslop, P.22
Hardy, J.23
Rogaeva, E.24
more..
-
9
-
-
34447096691
-
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration
-
DOI 10.1007/s00401-007-0237-2
-
NJ Cairns EH Bigio IR Mackenzie M Neumann VM Lee KJ Hatanpaa CL White 3rd JA Schneider LT Grinberg G Halliday C Duyckaerts JS Lowe IE Holm M Tolnay K Okamoto H Yokoo S Murayama J Woulfe DG Munoz DW Dickson PG Ince JQ Trojanowski DM Mann 2007 Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Acta Neuropathol 114 5 22 10.1007/s00401-007- 0237-2 17579875 (Pubitemid 47029055)
-
(2007)
Acta Neuropathologica
, vol.114
, Issue.1
, pp. 5-22
-
-
Cairns, N.J.1
Bigio, E.H.2
Mackenzie, I.R.A.3
Neumann, M.4
Lee, V.M.-Y.5
Hatanpaa, K.J.6
White III, C.L.7
Schneider, J.A.8
Grinberg, L.T.9
Halliday, G.10
Duyckaerts, C.11
Lowe, J.S.12
Holm, I.E.13
Tolnay, M.14
Okamoto, K.15
Yokoo, H.16
Murayama, S.17
Woulfe, J.18
Munoz, D.G.19
Dickson, D.W.20
Ince, P.G.21
Trojanowski, J.Q.22
Mann, D.M.A.23
more..
-
10
-
-
34547663747
-
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
-
DOI 10.2353/ajpath.2007.070182
-
NJ Cairns M Neumann EH Bigio IE Holm D Troost KJ Hatanpaa C Foong CL White 3rd JA Schneider HA Kretzschmar D Carter L Taylor-Reinwald K Paulsmeyer J Strider M Gitcho AM Goate JC Morris M Mishra LK Kwong A Stieber Y Xu MS Forman JQ Trojanowski VM Lee IR Mackenzie 2007 TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions Am J Pathol 171 227 240 10.2353/ajpath.2007.070182 1:CAS:528:DC%2BD2sXosVals7c%3D 17591968 (Pubitemid 47342406)
-
(2007)
American Journal of Pathology
, vol.171
, Issue.1
, pp. 227-240
-
-
Cairns, N.J.1
Neumann, M.2
Bigio, E.H.3
Holm, I.E.4
Troost, D.5
Hatanpaa, K.J.6
Foong, C.7
White III, C.L.8
Schneider, J.A.9
Kretzschmar, H.A.10
Carter, D.11
Taylor-Reinwald, L.12
Paulsmeyer, K.13
Strider, J.14
Gitcho, M.15
Goate, A.M.16
Morris, J.C.17
Mishra, M.18
Kwong, L.K.19
Stieber, A.20
Xu, Y.21
Forman, M.S.22
Trojanowski, J.Q.23
Lee, V.M.-Y.24
Mackenzie, I.R.A.25
more..
-
11
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
DOI 10.1038/nature05017, PII NATURE05017
-
M Cruts I Gijselinck J van der Zee S Engelborghs H Wils D Pirici R Rademakers R Vandenberghe B Dermaut JJ Martin C van Duijn K Peeters R Sciot P Santens T De Pooter M Mattheijssens M Van den Broeck I Cuijt K Vennekens PP De Deyn S Kumar-Singh C Van Broeckhoven 2006 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 920 924 10.1038/nature05017 1:CAS:528:DC%2BD28XosVOgu74%3D 16862115 (Pubitemid 44285947)
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.-J.10
Van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van Den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
12
-
-
33846055457
-
Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
DOI 10.2174/156720506779025251
-
M Cruts S Kumar-Singh C Van Broeckhoven 2006 Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Curr Alzheimer Res 3 485 491 10.2174/156720506779025251 1:CAS:528:DC%2BD28XhtlWksbrP 17168647 (Pubitemid 46066424)
-
(2006)
Current Alzheimer Research
, vol.3
, Issue.5
, pp. 485-491
-
-
Cruts, M.1
Kumar-Singh, S.2
Van Broeckhoven, C.3
-
13
-
-
0042635680
-
Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development
-
DOI 10.1002/dvdy.10341
-
R Daniel E Daniels Z He A Bateman 2003 Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development Dev Dyn 227 593 599 10.1002/dvdy.10341 1:CAS:528:DC%2BD3sXntVyhsLw%3D 12889069 (Pubitemid 36951084)
-
(2003)
Developmental Dynamics
, vol.227
, Issue.4
, pp. 593-599
-
-
Daniel, R.1
Daniels, E.2
He, Z.3
Bateman, A.4
-
14
-
-
33749568019
-
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
-
DOI 10.1093/hmg/ddl241
-
J Gass A Cannon IR Mackenzie B Boeve M Baker J Adamson R Crook S Melquist K Kuntz R Petersen K Josephs SM Pickering-Brown N Graff-Radford R Uitti D Dickson Z Wszolek J Gonzalez TG Beach E Bigio N Johnson S Weintraub M Mesulam CL White 3rd B Woodruff R Caselli GY Hsiung H Feldman D Knopman M Hutton R Rademakers 2006 Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration Hum Mol Genet 15 2988 3001 10.1093/hmg/ddl241 1:CAS:528:DC%2BD28XhtVOgt77J 16950801 (Pubitemid 44530703)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.20
, pp. 2988-3001
-
-
Gass, J.1
Cannon, A.2
Mackenzie, I.R.3
Boeve, B.4
Baker, M.5
Adamson, J.6
Crook, R.7
Melquist, S.8
Kuntz, K.9
Petersen, R.10
Josephs, K.11
Pickering-Brown, S.M.12
Graff-Radford, N.13
Uitti, R.14
Dickson, D.15
Wszolek, Z.16
Gonzalez, J.17
Beach, T.G.18
Bigio, E.19
Johnson, N.20
Weintraub, S.21
Mesulam, M.22
White III, C.L.23
Woodruff, B.24
Caselli, R.25
Hsiung, G.-Y.26
Feldman, H.27
Knopman, D.28
Hutton, M.29
Rademakers, R.30
more..
-
15
-
-
38149123302
-
Progranulin locus deletion in frontotemporal dementia
-
10.1002/humu.20651 1:STN:280:DC%2BD2sjmsFKgsg%3D%3D 18157829
-
I Gijselinck J van der Zee S Engelborghs D Goossens K Peeters M Mattheijssens E Corsmit J Del-Favero PP De Deyn C Van Broeckhoven M Cruts 2008 Progranulin locus deletion in frontotemporal dementia Hum Mutat 29 53 58 10.1002/humu.20651 1:STN:280:DC%2BD2sjmsFKgsg%3D%3D 18157829
-
(2008)
Hum Mutat
, vol.29
, pp. 53-58
-
-
Gijselinck, I.1
Van Der Zee, J.2
Engelborghs, S.3
Goossens, D.4
Peeters, K.5
Mattheijssens, M.6
Corsmit, E.7
Del-Favero, J.8
De Deyn, P.P.9
Van Broeckhoven, C.10
Cruts, M.11
-
16
-
-
0033168521
-
Progranulin gene expression regulates epithelial cell growth and promotes tumor growth in vivo
-
1:CAS:528:DyaK1MXksVGjsrw%3D 10397269
-
Z He A Bateman 1999 Progranulin gene expression regulates epithelial cell growth and promotes tumor growth in vivo Cancer Res 59 3222 3229 1:CAS:528:DyaK1MXksVGjsrw%3D 10397269
-
(1999)
Cancer Res
, vol.59
, pp. 3222-3229
-
-
He, Z.1
Bateman, A.2
-
17
-
-
33749487800
-
Characteristics of frontotemporal dementia patients with a Progranulin mutation
-
DOI 10.1002/ana.20969
-
ED Huey J Grafman EM Wassermann P Pietrini MC Tierney B Ghetti S Spina M Baker M Hutton JW Elder SL Berger KA Heflin J Hardy P Momeni 2006 Characteristics of frontotemporal dementia patients with a progranulin mutation Ann Neurol 60 374 380 10.1002/ana.20969 16983677 (Pubitemid 44520240)
-
(2006)
Annals of Neurology
, vol.60
, Issue.3
, pp. 374-380
-
-
Huey, E.D.1
Grafman, J.2
Wassermann, E.M.3
Pietrini, P.4
Tierney, M.C.5
Ghetti, B.6
Spina, S.7
Baker, M.8
Hutton, M.9
Elder, J.W.10
Berger, S.L.11
Heflin, K.A.12
Hardy, J.13
Momeni, P.14
-
18
-
-
33846794448
-
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations
-
DOI 10.1097/nen.0b013e31803020cf, PII 0000507220070200000006
-
KA Josephs Z Ahmed O Katsuse JF Parisi BF Boeve DS Knopman RC Petersen P Davies R Duara NR Graff-Radford RJ Uitti R Rademakers J Adamson M Baker ML Hutton DW Dickson 2007 Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations J Neuropathol Exp Neurol 66 142 151 10.1097/nen.0b013e31803020cf 1:CAS:528:DC%2BD2sXislWnsb8%3D 17278999 (Pubitemid 46208735)
-
(2007)
Journal of Neuropathology and Experimental Neurology
, vol.66
, Issue.2
, pp. 142-151
-
-
Josephs, K.A.1
Ahmed, Z.2
Katsuse, O.3
Parisi, J.F.4
Boeve, B.F.5
Knopman, D.S.6
Petersen, R.C.7
Davies, P.8
Duara, R.9
Graff-Radford, N.R.10
Uitti, R.J.11
Rademakers, R.12
Adamson, J.13
Baker, M.14
Hutton, M.L.15
Dickson, D.W.16
-
19
-
-
62349102691
-
Prominent phenotypic variability associated with mutations in Progranulin
-
10.1016/j.neurobiolaging.2007.08.022 1:CAS:528:DC%2BD1MXjsVKqt7g%3D 17949857
-
BJ Kelley W Haidar BF Boeve M Baker NR Graff-Radford T Krefft AR Frank CR Jack M Shiung DS Knopman KA Josephs SA Parashos R Rademakers M Hutton S Pickering-Brown J Adamson KM Kuntz DW Dickson JE Parisi GE Smith RJ Ivnik RC Petersen 2009 Prominent phenotypic variability associated with mutations in Progranulin Neurobiol Aging 30 739 751 10.1016/j.neurobiolaging.2007.08.022 1:CAS:528:DC%2BD1MXjsVKqt7g%3D 17949857
-
(2009)
Neurobiol Aging
, vol.30
, pp. 739-751
-
-
Kelley, B.J.1
Haidar, W.2
Boeve, B.F.3
Baker, M.4
Graff-Radford, N.R.5
Krefft, T.6
Frank, A.R.7
Jack, C.R.8
Shiung, M.9
Knopman, D.S.10
Josephs, K.A.11
Parashos, S.A.12
Rademakers, R.13
Hutton, M.14
Pickering-Brown, S.15
Adamson, J.16
Kuntz, K.M.17
Dickson, D.W.18
Parisi, J.E.19
Smith, G.E.20
Ivnik, R.J.21
Petersen, R.C.22
more..
-
20
-
-
57449097370
-
Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration
-
10.1111/j.1468-1331.2008.02272.x
-
J Kruger AL Kaivorinne B Udd K Majamaa AM Remes 2009 Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration Eur J Neurol 18 27 30 10.1111/j.1468-1331.2008.02272.x
-
(2009)
Eur J Neurol
, vol.18
, pp. 27-30
-
-
Kruger, J.1
Kaivorinne, A.L.2
Udd, B.3
Majamaa, K.4
Remes, A.M.5
-
21
-
-
39749135522
-
Phenotype variability in progranulin mutation carriers: A clinical, neuropsychological, imaging and genetic study
-
DOI 10.1093/brain/awn012
-
I Le Ber A Camuzat D Hannequin F Pasquier E Guedj A Rovelet-Lecrux V Hahn-Barma J van der Zee F Clot S Bakchine M Puel M Ghanim L Lacomblez J Mikol V Deramecourt P Lejeune V de la Sayette S Belliard M Vercelletto C Meyrignac C Van Broeckhoven JC Lambert P Verpillat D Campion MO Habert B Dubois A Brice 2008 Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study Brain 131 732 746 10.1093/brain/awn012 18245784 (Pubitemid 351294727)
-
(2008)
Brain
, vol.131
, Issue.3
, pp. 732-746
-
-
Le Ber, I.1
Camuzat, A.2
Hannequin, D.3
Pasquier, F.4
Guedj, E.5
Rovelet-Lecrux, A.6
Hahn-Barma, V.7
Van Der Zee, J.8
Clot, F.9
Bakchine, S.10
Puel, M.11
Ghanim, M.12
Lacomblez, L.13
Mikol, J.14
Deramecourt, V.15
Lejeune, P.16
De La Sayette, V.17
Belliard, S.18
Vercelletto, M.19
Meyrignac, C.20
Van Broeckhoven, C.21
Lambert, J.-C.22
Verpillat, P.23
Campion, D.24
Habert, M.-O.25
Dubois, B.26
Brice, A.27
Clerget-Darpoux, F.28
Didic, M.29
Desnuelle, C.30
Duyckaerts, C.31
Golfier, V.32
Michel, B.F.33
Thomas-Anterion, C.34
Salachas, F.35
Sellal, F.36
Camu, W.37
more..
-
22
-
-
34447098853
-
Progranulin null mutations in both sporadic and familial frontotemporal dementia
-
DOI 10.1002/humu.20520
-
I Le Ber J van der Zee D Hannequin I Gijselinck D Campion M Puel A Laquerriere T De Pooter A Camuzat M Van den Broeck B Dubois F Sellal L Lacomblez M Vercelletto C Thomas-Anterion BF Michel V Golfier M Didic F Salachas C Duyckaerts M Cruts P Verpillat C Van Broeckhoven A Brice 2007 Progranulin null mutations in both sporadic and familial frontotemporal dementia Hum Mutat 28 846 855 10.1002/humu.20520 17436289 (Pubitemid 47579934)
-
(2007)
Human Mutation
, vol.28
, Issue.9
, pp. 846-855
-
-
Le Ber, I.1
Van Der Zee, J.2
Hannequin, D.3
Gijselinck, U.4
Campion, D.5
Puel, M.6
Laquerriere, A.7
De Pooter, T.8
Camuzat, A.9
Van Den Broeck, M.10
Dubois, B.11
Sellal, F.12
Lacomblez, L.13
Vercelletto, M.14
Thomas-Anterion, C.15
Michel, B.-F.16
Golfier, V.17
Didic, M.18
Salachas, F.19
Duyckaerts, C.20
Cruts, M.21
Verpillat, P.22
Van Broeckhoven, C.23
Brice, A.24
Clerget-Darpoux, F.25
Defer, G.26
Desnuelle, C.27
Pasquier, F.28
Camu, W.29
more..
-
23
-
-
34249658365
-
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
-
DOI 10.1093/brain/awm069
-
JB Leverenz CE Yu TJ Montine E Steinbart LM Bekris C Zabetian LK Kwong VM Lee GD Schellenberg TD Bird 2007 A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology Brain 130 1360 1374 10.1093/brain/awm069 1:STN:280:DC%2BD2s3mtlSisw%3D%3D 17439980 (Pubitemid 47355959)
-
(2007)
Brain
, vol.130
, Issue.5
, pp. 1360-1374
-
-
Leverenz, J.B.1
Yu, C.E.2
Montine, T.J.3
Steinbart, E.4
Bekris, L.M.5
Zabetian, C.6
Kwong, L.K.7
Lee, V.M.-Y.8
Schellenberg, G.D.9
Bird, T.D.10
-
24
-
-
42949138769
-
Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings
-
DOI 10.1016/j.biopsych.2007.08.015, PII S0006322307008232
-
A Lopez de Munain A Alzualde A Gorostidi D Otaegui J Ruiz-Martinez B Indakoetxea I Ferrer J Perez-Tur A Saenz A Bergareche M Barandiaran JJ Poza R Zabalza I Ruiz M Urtasun I Fernandez-Manchola B Olasagasti JB Espinal J Olaskoaga M Ruibal F Moreno N Carrera JF Masso 2008 Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings Biol Psychiatry 63 946 952 10.1016/j.biopsych.2007.08.015 1:CAS:528: DC%2BD1cXlsFOksLs%3D 17950702 (Pubitemid 351618388)
-
(2008)
Biological Psychiatry
, vol.63
, Issue.10
, pp. 946-952
-
-
Lopez De Munain, A.1
Alzualde, A.2
Gorostidi, A.3
Otaegui, D.4
Ruiz-Martinez, J.5
Indakoetxea, B.6
Ferrer, I.7
Perez-Tur, J.8
Saenz, A.9
Bergareche, A.10
Barandiaran, M.11
Poza, J.J.12
Zabalza, R.13
Ruiz, I.14
Urtasun, M.15
Fernandez-Manchola, I.16
Olasagasti, B.17
Espinal, J.B.18
Olaskoaga, J.19
Ruibal, M.20
Moreno, F.21
Carrera, N.22
Masso, J.F.M.23
more..
-
25
-
-
33749668518
-
Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: Classification and relation to clinical phenotype
-
DOI 10.1007/s00401-006-0138-9
-
IR Mackenzie A Baborie S Pickering-Brown D Du Plessis E Jaros RH Perry D Neary JS Snowden DM Mann 2006 Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype Acta Neuropathol 112 539 549 10.1007/s00401-006-0138-9 17021754 (Pubitemid 44550678)
-
(2006)
Acta Neuropathologica
, vol.112
, Issue.5
, pp. 539-549
-
-
Mackenzie, I.R.A.1
Baborie, A.2
Pickering-Brown, S.3
Plessis, D.D.4
Jaros, E.5
Perry, R.H.6
Neary, D.7
Snowden, J.S.8
Mann, D.M.A.9
-
26
-
-
33750590113
-
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
-
DOI 10.1093/brain/awl271
-
IR Mackenzie M Baker S Pickering-Brown GY Hsiung C Lindholm E Dwosh J Gass A Cannon R Rademakers M Hutton HH Feldman 2006 The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene Brain 129 3081 3090 10.1093/brain/awl271 17071926 (Pubitemid 44684527)
-
(2006)
Brain
, vol.129
, Issue.11
, pp. 3081-3090
-
-
Mackenzie, I.R.A.1
Baker, M.2
Pickering-Brown, S.3
Hsiung, G.-Y.R.4
Lindholm, C.5
Dwosh, E.6
Gass, J.7
Cannon, A.8
Rademakers, R.9
Hutton, M.10
Feldman, H.H.11
-
27
-
-
33846094364
-
Progranulin mutations in primary progressive aphasia: The PPA1 and PPA3 families
-
DOI 10.1001/archneur.64.1.43
-
M Mesulam N Johnson TA Krefft JM Gass AD Cannon JL Adamson EH Bigio S Weintraub DW Dickson ML Hutton NR Graff-Radford 2007 Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families Arch Neurol 64 43 47 10.1001/archneur.64.1.43 17210807 (Pubitemid 46072422)
-
(2007)
Archives of Neurology
, vol.64
, Issue.1
, pp. 43-47
-
-
Mesulam, M.1
Johnson, N.2
Krefft, T.A.3
Gass, J.M.4
Cannon, A.D.5
Adamson, J.L.6
Bigio, E.H.7
Weintraub, S.8
Dickson, D.W.9
Hutton, M.L.10
Graff-Radford, N.R.11
-
28
-
-
26844447994
-
Frontotemporal dementia
-
DOI 10.1016/S1474-4422(05)70223-4, PII S1474442205702234
-
D Neary J Snowden D Mann 2005 Frontotemporal dementia Lancet Neurol 4 771 780 10.1016/S1474-4422(05)70223-4 16239184 (Pubitemid 41457293)
-
(2005)
Lancet Neurology
, vol.4
, Issue.11
, pp. 771-780
-
-
Neary, D.1
Snowden, J.2
Mann, D.3
-
29
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
1:CAS:528:DC%2BD28XhtVCiurrL
-
M Neumann DM Sampathu LK Kwong AC Truax MC Micsenyi TT Chou J Bruce T Schuck M Grossman CM Clark LF McCluskey BL Miller E Masliah IR Mackenzie H Feldman W Feiden HA Kretzschmar JQ Trojanowski VM Lee 2006 Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science (New York, NY) 314 130 133 1:CAS:528:DC%2BD28XhtVCiurrL
-
(2006)
Science (New York, NY)
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
McCluskey, L.F.11
Miller, B.L.12
Masliah, E.13
MacKenzie, I.R.14
Feldman, H.15
Feiden, W.16
Kretzschmar, H.A.17
Trojanowski, J.Q.18
Lee, V.M.19
-
30
-
-
33750596714
-
Mutations in progranulin explain atypical phenotypes with variants in MAPT
-
DOI 10.1093/brain/awl289
-
SM Pickering-Brown M Baker J Gass BF Boeve CT Loy WS Brooks IR Mackenzie RN Martins JB Kwok GM Halliday J Kril PR Schofield DM Mann M Hutton 2006 Mutations in progranulin explain atypical phenotypes with variants in MAPT Brain 129 3124 3126 10.1093/brain/awl289 17071927 (Pubitemid 44684531)
-
(2006)
Brain
, vol.129
, Issue.11
, pp. 3124-3126
-
-
Pickering-Brown, S.M.1
Baker, M.2
Gass, J.3
Boeve, B.F.4
Loy, C.T.5
Brooks, W.S.6
Mackenzie, I.R.A.7
Martins, R.N.8
Kwok, J.B.J.9
Halliday, G.M.10
Kril, J.11
Schofield, P.R.12
Mann, D.M.A.13
Hutton, M.14
-
31
-
-
39749187585
-
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: Comparison with patients with MAPT and no known mutations
-
DOI 10.1093/brain/awm331
-
SM Pickering-Brown S Rollinson D Du Plessis KE Morrison A Varma AM Richardson D Neary JS Snowden DM Mann 2008 Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations Brain 131 721 731 10.1093/brain/awm331 18192287 (Pubitemid 351294717)
-
(2008)
Brain
, vol.131
, Issue.3
, pp. 721-731
-
-
Pickering-Brown, S.M.1
Rollinson, S.2
Du Plessis, D.3
Morrison, K.E.4
Varma, A.5
Richardson, A.M.T.6
Neary, D.7
Snowden, J.S.8
Mann, D.M.A.9
-
32
-
-
34548633862
-
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative
-
DOI 10.1016/S1474-4422(07)70221-1, PII S1474442207702211
-
R Rademakers M Baker J Gass J Adamson ED Huey P Momeni S Spina G Coppola AM Karydas H Stewart N Johnson GY Hsiung B Kelley K Kuntz E Steinbart EM Wood CE Yu K Josephs E Sorenson KB Womack S Weintraub SM Pickering-Brown PR Schofield WS Brooks VM Van Deerlin J Snowden CM Clark A Kertesz K Boylan B Ghetti D Neary GD Schellenberg TG Beach M Mesulam D Mann J Grafman IR Mackenzie H Feldman T Bird R Petersen D Knopman B Boeve DH Geschwind B Miller Z Wszolek C Lippa EH Bigio D Dickson N Graff-Radford M Hutton 2007 Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C->T (Arg493X) mutation: an international initiative Lancet Neurol 6 857 868 10.1016/S1474-4422(07)70221-1 1:CAS:528:DC%2BD2sXht1Krtr7O 17826340 (Pubitemid 47404986)
-
(2007)
Lancet Neurology
, vol.6
, Issue.10
, pp. 857-868
-
-
Rademakers, R.1
Baker, M.2
Gass, J.3
Adamson, J.4
Huey, E.D.5
Momeni, P.6
Spina, S.7
Coppola, G.8
Karydas, A.M.9
Stewart, H.10
Johnson, N.11
Hsiung, G.-Y.12
Kelley, B.13
Kuntz, K.14
Steinbart, E.15
Wood, E.M.16
Yu, C.-E.17
Josephs, K.18
Sorenson, E.19
Womack, K.B.20
Weintraub, S.21
Pickering-Brown, S.M.22
Schofield, P.R.23
Brooks, W.S.24
Van Deerlin, V.M.25
Snowden, J.26
Clark, C.M.27
Kertesz, A.28
Boylan, K.29
Ghetti, B.30
Neary, D.31
Schellenberg, G.D.32
Beach, T.G.33
Mesulam, M.34
Mann, D.35
Grafman, J.36
Mackenzie, I.R.37
Feldman, H.38
Bird, T.39
Petersen, R.40
Knopman, D.41
Boeve, B.42
Geschwind, D.H.43
Miller, B.44
Wszolek, Z.45
Lippa, C.46
Bigio, E.H.47
Dickson, D.48
Graff-Radford, N.49
Hutton, M.50
more..
-
33
-
-
0041320789
-
Frontotemporal dementia in The Netherlands: Patient characteristics and prevalence estimates from a population-based study
-
DOI 10.1093/brain/awg204
-
SM Rosso L Donker Kaat T Baks M Joosse I de Koning Y Pijnenburg D de Jong D Dooijes W Kamphorst R Ravid MF Niermeijer F Verheij HP Kremer P Scheltens CM van Duijn P Heutink JC van Swieten 2003 Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study Brain 126 2016 2022 10.1093/brain/awg204 12876142 (Pubitemid 37059441)
-
(2003)
Brain
, vol.126
, Issue.9
, pp. 2016-2022
-
-
Rosso, S.M.1
Kaat, L.D.2
Baks, T.3
Joosse, M.4
De Koning, I.5
Pijnenburg, Y.6
De Jong, D.7
Dooijes, D.8
Kamphorst, W.9
Ravid, R.10
Niermeijer, M.F.11
Verheij, F.12
Kremer, H.P.13
Scheltens, P.14
Van Duijn, C.M.15
Heutink, P.16
Van Swieten, J.C.17
-
34
-
-
45049084534
-
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease
-
10.1016/j.nbd.2008.03.004 1:CAS:528:DC%2BD1cXnsF2lt7o%3D 18479928
-
A Rovelet-Lecrux V Deramecourt S Legallic CA Maurage I Le Ber A Brice JC Lambert T Frebourg D Hannequin F Pasquier D Campion 2008 Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease Neurobiol Dis 31 41 45 10.1016/j.nbd.2008.03.004 1:CAS:528: DC%2BD1cXnsF2lt7o%3D 18479928
-
(2008)
Neurobiol Dis
, vol.31
, pp. 41-45
-
-
Rovelet-Lecrux, A.1
Deramecourt, V.2
Legallic, S.3
Maurage, C.A.4
Le Ber, I.5
Brice, A.6
Lambert, J.C.7
Frebourg, T.8
Hannequin, D.9
Pasquier, F.10
Campion, D.11
-
35
-
-
33846076379
-
Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies
-
DOI 10.2353/ajpath.2006.060438
-
DM Sampathu M Neumann LK Kwong TT Chou M Micsenyi A Truax J Bruce M Grossman JQ Trojanowski VM Lee 2006 Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies Am J Pathol 169 1343 1352 10.2353/ajpath.2006.060438 1:CAS:528:DC%2BD28XhtFeitLbJ 17003490 (Pubitemid 351194368)
-
(2006)
American Journal of Pathology
, vol.169
, Issue.4
, pp. 1343-1352
-
-
Sampathu, D.M.1
Neumann, M.2
Kwong, L.K.3
Chou, T.T.4
Micsenyi, M.5
Truax, A.6
Bruce, J.7
Grossman, M.8
Trojanowski, J.Q.9
Lee, V.M.-Y.10
-
36
-
-
33847772689
-
The Clock Reading Test: Validation of an instrument for the diagnosis of dementia and disorders of visuo-spatial cognition
-
DOI 10.1017/S104161020600456X, PII S104161020600456X
-
K Schmidtke S Olbrich 2007 The Clock Reading Test: validation of an instrument for the diagnosis of dementia and disorders of visuo-spatial cognition Int Psychogeriatr 19 307 321 10.1017/S104161020600456X 17147844 (Pubitemid 46393214)
-
(2007)
International Psychogeriatrics
, vol.19
, Issue.2
, pp. 307-321
-
-
Schmidtke, K.1
Olbrich, S.2
-
37
-
-
34447099564
-
Frontotemporal lobar degeneration: Clinical and pathological relationships
-
DOI 10.1007/s00401-007-0236-3
-
J Snowden D Neary D Mann 2007 Frontotemporal lobar degeneration: clinical and pathological relationships Acta Neuropathol 114 31 38 10.1007/s00401-007- 0236-3 17569065 (Pubitemid 47029057)
-
(2007)
Acta Neuropathologica
, vol.114
, Issue.1
, pp. 31-38
-
-
Snowden, J.1
Neary, D.2
Mann, D.3
-
38
-
-
33750599059
-
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
-
DOI 10.1093/brain/awl267
-
JS Snowden SM Pickering-Brown IR Mackenzie AM Richardson A Varma D Neary DM Mann 2006 Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia Brain 129 3091 3102 10.1093/brain/awl267 1:STN:280:DC%2BD28njtl2gsQ%3D%3D 17003069 (Pubitemid 44684528)
-
(2006)
Brain
, vol.129
, Issue.11
, pp. 3091-3102
-
-
Snowden, J.S.1
Pickering-Brown, S.M.2
Mackenzie, I.R.3
Richardson, A.M.T.4
Varma, A.5
Neary, D.6
Mann, D.M.A.7
-
39
-
-
34948898536
-
Corticobasal syndrome associated with the A9D Progranulin mutation
-
DOI 10.1097/nen.0b013e3181567873, PII 0000507220071000000003
-
S Spina JR Murrell ED Huey EM Wassermann P Pietrini J Grafman B Ghetti 2007 Corticobasal syndrome associated with the A9D Progranulin mutation J Neuropathol Exp Neurol 66 892 900 10.1097/nen.0b013e3181567873 1:CAS:528:DC%2BD2sXht1yiur%2FF 17917583 (Pubitemid 47530828)
-
(2007)
Journal of Neuropathology and Experimental Neurology
, vol.66
, Issue.10
, pp. 892-900
-
-
Spina, S.1
Murrell, J.R.2
Huey, E.D.3
Wassermann, E.M.4
Pietrini, P.5
Grafman, J.6
Ghetti, B.7
-
40
-
-
0031800415
-
Familial aggregation in frontotemporal dementia
-
1:STN:280:DyaK1c3psFCnuw%3D%3D 9633692
-
M Stevens CM van Duijn W Kamphorst P de Knijff P Heutink WA van Gool P Scheltens R Ravid BA Oostra MF Niermeijer JC van Swieten 1998 Familial aggregation in frontotemporal dementia Neurology 50 1541 1545 1:STN:280:DyaK1c3psFCnuw%3D%3D 9633692
-
(1998)
Neurology
, vol.50
, pp. 1541-1545
-
-
Stevens, M.1
Van Duijn, C.M.2
Kamphorst, W.3
De Knijff, P.4
Heutink, P.5
Van Gool, W.A.6
Scheltens, P.7
Ravid, R.8
Oostra, B.A.9
Niermeijer, M.F.10
Van Swieten, J.C.11
-
41
-
-
34447096609
-
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations
-
DOI 10.1001/archneur.64.8.1148
-
VM Van Deerlin EM Wood P Moore W Yuan MS Forman CM Clark M Neumann LK Kwong JQ Trojanowski VM Lee M Grossman 2007 Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations Arch Neurol 64 1148 1153 10.1001/archneur.64.8.1148 17698705 (Pubitemid 47258074)
-
(2007)
Archives of Neurology
, vol.64
, Issue.8
, pp. 1148-1153
-
-
Van Deerlin, V.M.1
Wood, E.M.2
Moore, P.3
Yuan, W.4
Forman, M.S.5
Clark, C.M.6
Neumann, M.7
Kwong, L.K.8
Trojanowski, J.Q.9
Lee, V.M.-Y.10
Grossman, M.11
-
42
-
-
0032880430
-
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
-
DOI 10.1002/1531-8249(199910)46:4<617::AID-ANA10>3.0.CO;2-I
-
JC van Swieten M Stevens SM Rosso P Rizzu M Joosse I de Koning W Kamphorst R Ravid MG Spillantini HeutinkP Niermeijer 1999 Phenotypic variation in hereditary frontotemporal dementia with tau mutations Ann Neurol 46 617 626 10.1002/1531-8249(199910)46:4<617::AID-ANA10>3.0.CO;2-I 10514099 (Pubitemid 29466441)
-
(1999)
Annals of Neurology
, vol.46
, Issue.4
, pp. 617-626
-
-
Van Swieten, J.C.1
Stevens, M.2
Rosso, S.M.3
Rizzu, P.4
Joosse, M.5
De Koning, I.6
Kamphorst, W.7
Ravid, R.8
Spillantini, M.G.9
Niermeijer, M.F.10
Heutink, P.11
-
43
-
-
0037074016
-
Conversion of proepithelin to epithelins: Roles of SLPI and elastase in host defense and wound repair
-
DOI 10.1016/S0092-8674(02)01141-8
-
J Zhu C Nathan W Jin D Sim GS Ashcroft SM Wahl L Lacomis H Erdjument-Bromage P Tempst CD Wright A Ding 2002 Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair Cell 111 867 878 10.1016/S0092-8674(02)01141-8 1:CAS:528:DC%2BD3sXhtVyksw%3D%3D 12526812 (Pubitemid 36106407)
-
(2002)
Cell
, vol.111
, Issue.6
, pp. 867-878
-
-
Zhu, J.1
Nathan, C.2
Jin, W.3
Sim, D.4
Ashcroft, G.S.5
Wahl, S.M.6
Lacomis, L.7
Erdjument-Bromage, H.8
Tempst, P.9
Wright, C.D.10
Ding, A.11
|