-
2
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary, D., Snowden, J. S., Gustafson, L., Passant, U., Stuss, D., Black, S., Freedman, M., Kertesz, A., Robert, P. H., Albert, M., Boone, K., Miller, B. L., Cummings, J., and Benson, D. F. (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51, 1546-1554
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
Passant, U.4
Stuss, D.5
Black, S.6
Freedman, M.7
Kertesz, A.8
Robert, P.H.9
Albert, M.10
Boone, K.11
Miller, B.L.12
Cummings, J.13
Benson, D.F.14
-
3
-
-
77649187519
-
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: An update
-
Mackenzie, I. R., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I., Kril, J., Kovacs, G. G., Ghetti, B., Halliday, G., Holm, I. E., Ince, P. G., Kamphorst, W., Revesz, T., Rozemuller, A. J., Kumar-Singh, S., Akiyama, H., Baborie, A., Spina, S., Dickson, D. W., Trojanowski, J. Q., and Mann, D. M. (2010) Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol. 119, 1-4
-
(2010)
Acta Neuropathol.
, vol.119
, pp. 1-4
-
-
Mackenzie, I.R.1
Neumann, M.2
Bigio, E.H.3
Cairns, N.J.4
Alafuzoff, I.5
Kril, J.6
Kovacs, G.G.7
Ghetti, B.8
Halliday, G.9
Holm, I.E.10
Ince, P.G.11
Kamphorst, W.12
Revesz, T.13
Rozemuller, A.J.14
Kumar-Singh, S.15
Akiyama, H.16
Baborie, A.17
Spina, S.18
Dickson, D.W.19
Trojanowski, J.Q.20
Mann, D.M.21
more..
-
4
-
-
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
-
Cairns, N. J., Bigio, E. H., Mackenzie, I. R., Neumann, M., Lee, V. M., Hatanpaa, K. J., White, C. L., 3rd, Schneider, J. A., Grinberg, L. T., Halliday, G., Duyckaerts, C., Lowe, J. S., Holm, I. E., Tolnay, M., Okamoto, K., Yokoo, H., Murayama, S., Woulfe, J., Munoz, D. G., Dickson, D. W., Ince, P. G., Trojanowski, J. Q., and Mann, D. M. (2007) Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol. 114, 5-22 (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..
-
5
-
-
41249089087
-
Loss of progranulin function in frontotemporal lobar degeneration
-
Cruts, M., and Van Broeckhoven, C. (2008) Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet. 24, 186-194
-
(2008)
Trends Genet.
, vol.24
, pp. 186-194
-
-
Cruts, M.1
Van Broeckhoven, C.2
-
6
-
-
35448970651
-
The molecular genetics and neuropathology of frontotemporal lobar degeneration: Recent developments
-
DOI 10.1007/s10048-007-0102-4
-
Mackenzie, I. R., and Rademakers, R. (2007) The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics 8, 237-248 (Pubitemid 47624449)
-
(2007)
Neurogenetics
, vol.8
, Issue.4
, pp. 237-248
-
-
Mackenzie, I.R.A.1
Rademakers, R.2
-
7
-
-
70350673956
-
Anew subtype of frontotemporal lobar degeneration with FUS pathology
-
Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., and Mackenzie, I. R. (2009)Anew subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132, 2922-2931
-
(2009)
Brain
, vol.132
, pp. 2922-2931
-
-
Neumann, M.1
Rademakers, R.2
Roeber, S.3
Baker, M.4
Kretzschmar, H.A.5
Mackenzie, I.R.6
-
8
-
-
77953872890
-
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
-
FReJA Consortium
-
Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., FReJA Consortium, Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White, C. L., 3rd, Weiner, M. F., Geser, F., Van Deerlin, V. M., Trojanowski, J. Q., Miller, B. L., Seeley, W. W., van der Zee, J., Kumar-Singh, S., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Bigio, E. H., Deng, H. X., Halliday, G. M., Kril, J. J., Munoz, D. G., Mann, D. M., Pickering-Brown, S. M., Doodeman, V., Adamson, G., Ghazi-Noori, S., Fisher, E. M., Holton, J. L., Revesz, T., Rossor, M. N., Collinge, J., Mead, S., and Isaacs, A. M. (2010) FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol. 120, 33-41
-
(2010)
Acta Neuropathol.
, vol.120
, pp. 33-41
-
-
Urwin, H.1
Josephs, K.A.2
Rohrer, J.D.3
Mackenzie, I.R.4
Neumann, M.5
Authier, A.6
Seelaar, H.7
Van Swieten, J.C.8
Brown, J.M.9
Johannsen, P.10
Nielsen, J.E.11
Holm, I.E.12
Dickson, D.W.13
Rademakers, R.14
Graff-Radford, N.R.15
Parisi, J.E.16
Petersen, R.C.17
Hatanpaa, K.J.18
White III, C.L.19
Weiner, M.F.20
Geser, F.21
Van Deerlin, V.M.22
Trojanowski, J.Q.23
Miller, B.L.24
Seeley, W.W.25
Van Der Zee, J.26
Kumar-Singh, S.27
Engelborghs, S.28
De Deyn, P.P.29
Van Broeckhoven, C.30
Bigio, E.H.31
Deng, H.X.32
Halliday, G.M.33
Kril, J.J.34
Munoz, D.G.35
Mann, D.M.36
Pickering-Brown, S.M.37
Doodeman, V.38
Adamson, G.39
Ghazi-Noori, S.40
Fisher, E.M.41
Holton, J.L.42
Revesz, T.43
Rossor, M.N.44
Collinge, J.45
Mead, S.46
Isaacs, A.M.47
more..
-
9
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng, H. X., Chen, W., Hong, S. T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., Jiang, H., Hirano, M., Rampersaud, E., Jansen, G. H., Donkervoort, S., Bigio, E. H., Brooks, B. R., Ajroud, K., Sufit, R. L., Haines, J. L., Mugnaini, E., Pericak-Vance, M. A., and Siddique,T. (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211-215
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.X.1
Chen, W.2
Hong, S.T.3
Boycott, K.M.4
Gorrie, G.H.5
Siddique, N.6
Yang, Y.7
Fecto, F.8
Shi, Y.9
Zhai, H.10
Jiang, H.11
Hirano, M.12
Rampersaud, E.13
Jansen, G.H.14
Donkervoort, S.15
Bigio, E.H.16
Brooks, B.R.17
Ajroud, K.18
Sufit, R.L.19
Haines, J.L.20
Mugnaini, E.21
Pericak-Vance, M.A.22
Siddique, T.23
more..
-
10
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
DOI 10.1038/ng1332
-
Watts, G. D., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., and Kimonis, V. E. (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet. 36, 377-381 (Pubitemid 38437260)
-
(2004)
Nature Genetics
, vol.36
, Issue.4
, pp. 377-381
-
-
Watts, G.D.J.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
Pestronk, A.7
Whyte, M.P.8
Kimonis, V.E.9
-
11
-
-
35348909072
-
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
-
DOI 10.1111/j.1399-0004.2007.00887.x
-
Watts, G. D., Thomasova, D., Ramdeen, S. K., Fulchiero, E. C., Mehta, S. G., Drachman, D. A., Weihl, C. C., Jamrozik, Z., Kwiecinski, H., Kaminska, A., and Kimonis, V. E. (2007) Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin. Genet. 72, 420-426 (Pubitemid 47570695)
-
(2007)
Clinical Genetics
, vol.72
, Issue.5
, pp. 420-426
-
-
Watts, G.D.G.1
Thomasova, D.2
Ramdeen, S.K.3
Fulchiero, E.C.4
Mehta, S.G.5
Drachman, D.A.6
Weihl, C.C.7
Jamrozik, Z.8
Kwiecinski, H.9
Kaminska, A.10
Kimonis, V.E.11
-
12
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
DOI 10.1038/ng1609
-
Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., Brandner, S., Brun, A., Rossor, M. N., Gade, A., Johannsen, P., Sørensen, S. A., Gydesen, S., Fisher, E. M., and Collinge, J. (2005) Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat. Genet. 37, 806-808 (Pubitemid 41077105)
-
(2005)
Nature Genetics
, vol.37
, Issue.8
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
Nielsen, J.E.7
Hodges, J.R.8
Spillantini, M.G.9
Thusgaard, T.10
Brandner, S.11
Brun, A.12
Rossor, M.N.13
Gade, A.14
Johannsen, P.15
Sorensen, S.A.16
Gydesen, S.17
Fisher, E.M.C.18
Collinge, J.19
-
13
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
DOI 10.1038/nature05016, PII NATURE05016
-
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., Cannon, A., Dwosh, E., Neary, D., Melquist, S., Richardson, A., Dickson, D., Berger, Z., Eriksen, J., Robinson, T., Zehr, C., Dickey, C. A., Crook, R., McGowan, E., Mann, D., Boeve, B., Feldman, H., and Hutton, M. (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919 (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..
-
14
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
DOI 10.1038/nature05017, PII NATURE05017
-
Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J. J., van Duijn, C., Peeters, K., Sciot, R., Santens, P., De Pooter, T., Mattheijssens, M., Van den Broeck, M., Cuijt, I., Vennekens, K., De Deyn, P. P., Kumar-Singh, S., and Van Broeckhoven, C. (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442, 920-924 (Pubitemid 44285947)
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der, Z.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, B.M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
15
-
-
56749171877
-
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update
-
DOI 10.1002/humu.20785
-
Gijselinck, I., Van Broeckhoven, C., and Cruts, M. (2008) Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum. Mutat. 29, 1373-1386 (Pubitemid 352774891)
-
(2008)
Human Mutation
, vol.29
, Issue.12
, pp. 1373-1386
-
-
Gijselinck, I.1
Van Broeckhoven, C.2
Cruts, M.3
-
16
-
-
33749568019
-
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
-
DOI 10.1093/hmg/ddl241
-
Gass, J., Cannon, A., Mackenzie, I. R., Boeve, B., Baker, M., Adamson, J., Crook, R., Melquist, S., Kuntz, K., Petersen, R., Josephs, K., Pickering-Brown, S. M., Graff-Radford, N., Uitti, R., Dickson, D., Wszolek, Z., Gonzalez, J., Beach, T. G., Bigio, E., Johnson, N., Weintraub, S., Mesulam, M., White, C. L., 3rd, Woodruff, B., Caselli, R., Hsiung, G. Y., Feldman, H., Knopman, D., Hutton, M., and Rademakers, R. (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum. Mol. Genet. 15, 2988-3001 (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..
-
17
-
-
64849093178
-
Progranulin plasma levels in the diagnosis of frontotemporal dementia
-
Bird, T. D. (2009) Progranulin plasma levels in the diagnosis of frontotemporal dementia. Brain 132, 568-569
-
(2009)
Brain
, vol.132
, pp. 568-569
-
-
Bird, T.D.1
-
18
-
-
64849103956
-
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
-
Finch, N., Baker, M., Crook, R., Swanson, K., Kuntz, K., Surtees, R., Bisceglio, G., Rovelet-Lecrux, A., Boeve, B., Petersen, R. C., Dickson, D. W., Younkin, S. G., Deramecourt, V., Crook, J., Graff-Radford, N. R., and Rademakers, R. (2009) Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 132, 583-591
-
(2009)
Brain
, vol.132
, pp. 583-591
-
-
Finch, N.1
Baker, M.2
Crook, R.3
Swanson, K.4
Kuntz, K.5
Surtees, R.6
Bisceglio, G.7
Rovelet-Lecrux, A.8
Boeve, B.9
Petersen, R.C.10
Dickson, D.W.11
Younkin, S.G.12
Deramecourt, V.13
Crook, J.14
Graff-Radford, N.R.15
Rademakers, R.16
-
19
-
-
54449085260
-
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
-
Ghidoni, R., Benussi, L., Glionna, M., Franzoni, M., and Binetti, G. (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71, 1235-1239
-
(2008)
Neurology
, vol.71
, pp. 1235-1239
-
-
Ghidoni, R.1
Benussi, L.2
Glionna, M.3
Franzoni, M.4
Binetti, G.5
-
20
-
-
67249111266
-
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, P. P., Robberecht, W., and Van Broeckhoven, C. (2009) Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann. Neurol. 65, 603-609
-
(2009)
Ann. Neurol.
, vol.65
, pp. 603-609
-
-
Sleegers, K.1
Brouwers, N.2
Van Damme, P.3
Engelborghs, S.4
Gijselinck, I.5
Van Der Zee, J.6
Peeters, K.7
Mattheijssens, M.8
Cruts, M.9
Vandenberghe, R.10
De Deyn, P.P.11
Robberecht, W.12
Van Broeckhoven, C.13
-
21
-
-
52449110477
-
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, B. A., Van den Broeck, M., Mattheijssens, M., Peeters, K., Schymkowitz, J., Rousseau, F., Martin, J. J., Cruts, M., De Deyn, P. P., and Van Broeckhoven, C. (2008) Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 71, 656-664
-
(2008)
Neurology
, vol.71
, pp. 656-664
-
-
Brouwers, N.1
Sleegers, K.2
Engelborghs, S.3
Maurer-Stroh, S.4
Gijselinck, I.5
Van Der Zee, J.6
Pickut, B.A.7
Van Den Broeck, M.8
Mattheijssens, M.9
Peeters, K.10
Schymkowitz, J.11
Rousseau, F.12
Martin, J.J.13
Cruts, M.14
De Deyn, P.P.15
Van Broeckhoven, C.16
-
22
-
-
34347245619
-
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
-
DOI 10.1136/jnnp.2006.109553
-
Schymick, J. C., Yang, Y., Andersen, P. M., Vonsattel, J. P., Greenway, M., Momeni, P., Elder, J., Chiò, A., Restagno, G., Robberecht, W., Dahlberg, C., Mukherjee, O., Goate, A., Graff-Radford, N., Caselli, R. J., Hutton, M., Gass, J., Cannon, A., Rademakers, R., Singleton, A. B., Hardiman, O., Rothstein, J., Hardy, J., and Traynor, B. J. (2007) Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis- frontotemporal dementia phenotypes. J. Neurol. Neurosurg. Psychiatry 78, 754-756 (Pubitemid 46998853)
-
(2007)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.78
, Issue.7
, pp. 754-756
-
-
Schymick, J.C.1
Yang, Y.2
Andersen, P.M.3
Vonsattel, J.P.4
Greenway, M.5
Momeni, P.6
Elder, J.7
Chio, A.8
Restagno, G.9
Robberecht, W.10
Dahlberg, C.11
Mukherjee, O.12
Goate, A.13
Graff-Radford, N.14
Caselli, R.J.15
Hutton, M.16
Gass, J.17
Cannon, A.18
Rademakers, R.19
Singleton, A.B.20
Hardiman, O.21
Rothstein, J.22
Hardy, J.23
Traynor, B.J.24
more..
-
23
-
-
34247868937
-
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, J. J., Lacomblez, L., De Pooter, T., Peeters, K., Mattheijssens, M., Vercelletto, M., Van den Broeck, M., Cruts, M., De Deyn, P. P., Rousseau, F., Brice, A., and Van Broeckhoven, C. (2007) Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum. Mutat. 28, 416
-
(2007)
Hum. Mutat.
, vol.28
, pp. 416
-
-
Van Der Zee, J.1
Le Ber, I.2
Maurer-Stroh, S.3
Engelborghs, S.4
Gijselinck, I.5
Camuzat, A.6
Brouwers, N.7
Vandenberghe, R.8
Sleegers, K.9
Hannequin, D.10
Dermaut, B.11
Schymkowitz, J.12
Campion, D.13
Santens, P.14
Martin, J.J.15
Lacomblez, L.16
De Pooter, T.17
Peeters, K.18
Mattheijssens, M.19
Vercelletto, M.20
Van Den Broeck, M.21
Cruts, M.22
De Deyn, P.P.23
Rousseau, F.24
Brice, A.25
Van Broeckhoven, C.26
more..
-
24
-
-
75949130374
-
Pathogenic cysteine mutations affect progranulin function and production of mature granulins
-
Wang, J., Van Damme, P., Cruchaga, C., Gitcho, M. A., Vidal, J. M., Seijo-Martínez, M., Wang, L., Wu, J. Y., Robberecht, W., and Goate, A. (2010) Pathogenic cysteine mutations affect progranulin function and production of mature granulins. J. Neurochem. 112, 1305-1315
-
(2010)
J. Neurochem.
, vol.112
, pp. 1305-1315
-
-
Wang, J.1
Van Damme, P.2
Cruchaga, C.3
Gitcho, M.A.4
Vidal, J.M.5
Seijo-Martínez, M.6
Wang, L.7
Wu, J.Y.8
Robberecht, W.9
Goate, A.10
-
25
-
-
42049108445
-
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia
-
DOI 10.1002/humu.20681
-
Mukherjee, O., Wang, J., Gitcho, M., Chakraverty, S., Taylor-Reinwald, L., Shears, S., Kauwe, J. S., Norton, J., Levitch, D., Bigio, E. H., Hatanpaa, K. J., White, C. L., Morris, J. C., Cairns, N. J., and Goate, A. (2008) Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Hum. Mutat. 29, 512-521 (Pubitemid 351536990)
-
(2008)
Human Mutation
, vol.29
, Issue.4
, pp. 512-521
-
-
Mukherjee, O.1
Wang, J.2
Gitcho, M.3
Chakraverty, S.4
Taylor-Reinwald, L.5
Shears, S.6
Kauwe, J.S.K.7
Norton, J.8
Levitch, D.9
Bigio, E.H.10
Hatanpaa, K.J.11
White, C.L.12
Morris, J.C.13
Cairns, N.J.14
Goate, A.15
-
26
-
-
38349173569
-
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion
-
Shankaran, S. S., Capell, A., Hruscha, A. T., Fellerer, K., Neumann, M., Schmid, B., and Haass, C. (2008) Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J. Biol. Chem. 283, 1744-1753
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 1744-1753
-
-
Shankaran, S.S.1
Capell, A.2
Hruscha, A.T.3
Fellerer, K.4
Neumann, M.5
Schmid, B.6
Haass, C.7
-
27
-
-
34447096609
-
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations
-
DOI 10.1001/archneur.64.8.1148
-
Van Deerlin, V. M., Wood, E. M., Moore, P., Yuan, W., Forman, M. S., Clark, C. M., Neumann, M., Kwong, L. K., Trojanowski, J. Q., Lee, V. M., and Grossman, M. (2007) Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. Arch. Neurol. 64, 1148-1153 (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
-
28
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin, V. M., Sleiman, P. M., Martinez-Lage, M., Chen-Plotkin, A., Wang, L. S., Graff-Radford, N. R., Dickson, D. W., Rademakers, R., Boeve, B. F., Grossman, M., Arnold, S. E., Mann, D. M., Pickering-Brown, S. M., Seelaar, H., Heutink, P., van Swieten, J. C., Murrell, J. R., Ghetti, B., Spina, S., Grafman, J., Hodges, J., Spillantini, M. G., Gilman, S., Lieberman, A. P., Kaye, J. A., Woltjer, R. L., Bigio, E. H., Mesulam, M., Al-Sarraj, S., Troakes, C., Rosenberg, R. N., White, C. L., 3rd, Ferrer, I., Lladó, A., Neumann, M., Kretzschmar, H. A., Hulette, C. M., Welsh-Bohmer, K. A., Miller, B. L., Alzualde, A., Lopez de Munain, A., McKee, A. C., Gearing, M., Levey, A. I., Lah, J. J., Hardy, J., Rohrer, J. D., Lashley, T., Mackenzie, I. R., Feldman, H. H., Hamilton, R. L., Dekosky, S. T., van der Zee, J., Kumar-Singh, S., Van Broeckhoven, C., Mayeux, R., Vonsattel, J. P., Troncoso, J. C., Kril, J. J., Kwok, J. B., Halliday, G. M., Bird, T. D., Ince, P. G., Shaw, P. J., Cairns, N. J., Morris, J. C., McLean, C. A., DeCarli, C., Ellis, W. G., Freeman, S. H., Frosch, M. P., Growdon, J. H., Perl, D. P., Sano, M., Bennett, D. A., Schneider, J. A., Beach, T. G., Reiman, E. M., Woodruff, B. K., Cummings, J., Vinters, H. V., Miller, C. A., Chui, H. C., Alafuzoff, I., Hartikainen, P., Seilhean, D., Galasko, D., Masliah, E., Cotman, C. W., Tuñón, M. T., Martínez, M. C., Munoz, D. G., Carroll, S. L., Marson, D., Riederer, P. F., Bogdanovic, N., Schellenberg, G. D., Hakonarson, H., Trojanowski, J. Q., and Lee, V. M. (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 42, 234-239
-
(2010)
Nat. Genet.
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
Chen-Plotkin, A.4
Wang, L.S.5
Graff-Radford, N.R.6
Dickson, D.W.7
Rademakers, R.8
Boeve, B.F.9
Grossman, M.10
Arnold, S.E.11
Mann, D.M.12
Pickering-Brown, S.M.13
Seelaar, H.14
Heutink, P.15
Van Swieten, J.C.16
Murrell, J.R.17
Ghetti, B.18
Spina, S.19
Grafman, J.20
Hodges, J.21
Spillantini, M.G.22
Gilman, S.23
Lieberman, A.P.24
Kaye, J.A.25
Woltjer, R.L.26
Bigio, E.H.27
Mesulam, M.28
Al-Sarraj, S.29
Troakes, C.30
Rosenberg, R.N.31
White III, C.L.32
Ferrer, I.33
Lladó, A.34
Neumann, M.35
Kretzschmar, H.A.36
Hulette, C.M.37
Welsh-Bohmer, K.A.38
Miller, B.L.39
Alzualde, A.40
Lopez De Munain, A.41
McKee, A.C.42
Gearing, M.43
Levey, A.I.44
Lah, J.J.45
Hardy, J.46
Rohrer, J.D.47
Lashley, T.48
Mackenzie, I.R.49
Feldman, H.H.50
Hamilton, R.L.51
Dekosky, S.T.52
Van Der Zee, J.53
Kumar-Singh, S.54
Van Broeckhoven, C.55
Mayeux, R.56
Vonsattel, J.P.57
Troncoso, J.C.58
Kril, J.J.59
Kwok, J.B.60
Halliday, G.M.61
Bird, T.D.62
Ince, P.G.63
Shaw, P.J.64
Cairns, N.J.65
Morris, J.C.66
McLean, C.A.67
DeCarli, C.68
Ellis, W.G.69
Freeman, S.H.70
Frosch, M.P.71
Growdon, J.H.72
Perl, D.P.73
Sano, M.74
Bennett, D.A.75
Schneider, J.A.76
Beach, T.G.77
Reiman, E.M.78
Woodruff, B.K.79
Cummings, J.80
Vinters, H.V.81
Miller, C.A.82
Chui, H.C.83
Alafuzoff, I.84
Hartikainen, P.85
Seilhean, D.86
Galasko, D.87
Masliah, E.88
Cotman, C.W.89
Tuñón, M.T.90
Martínez, M.C.91
Munoz, D.G.92
Carroll, S.L.93
Marson, D.94
Riederer, P.F.95
Bogdanovic, N.96
Schellenberg, G.D.97
Hakonarson, H.98
Trojanowski, J.Q.99
Lee, V.M.100
more..
-
29
-
-
79953034868
-
Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis
-
Rollinson, S., Mead, S., Snowden, J., Richardson, A., Rohrer, J., Halliwell, N., Usher, S., Neary, D., Mann, D., Hardy, J., and Pickering-Brown, S. (2011) Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol. Aging 32, 758 e751-757
-
(2011)
Neurobiol. Aging
, vol.32
-
-
Rollinson, S.1
Mead, S.2
Snowden, J.3
Richardson, A.4
Rohrer, J.5
Halliwell, N.6
Usher, S.7
Neary, D.8
Mann, D.9
Hardy, J.10
Pickering-Brown, S.11
-
30
-
-
79955748378
-
Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels
-
Cruchaga, C., Graff, C., Chiang, H. H., Wang, J., Hinrichs, A. L., Spiegel, N., Bertelsen, S., Mayo, K., Norton, J. B., Morris, J. C., and Goate, A. (2011) Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch. Neurol. 68, 581-586
-
(2011)
Arch. Neurol.
, vol.68
, pp. 581-586
-
-
Cruchaga, C.1
Graff, C.2
Chiang, H.H.3
Wang, J.4
Hinrichs, A.L.5
Spiegel, N.6
Bertelsen, S.7
Mayo, K.8
Norton, J.B.9
Morris, J.C.10
Goate, A.11
-
31
-
-
79951494607
-
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
-
Finch, N., Carrasquillo, M. M., Baker, M., Rutherford, N. J., Coppola, G., Dejesus-Hernandez, M., Crook, R., Hunter, T., Ghidoni, R., Benussi, L., Crook, J., Finger, E., Hantanpaa, K. J., Karydas, A. M., Sengdy, P., Gonzalez, J., Seeley, W. W., Johnson, N., Beach, T. G., Mesulam, M., Forloni, G.,Kertesz, A., Knopman, D. S., Uitti, R., White, C. L., 3rd, Caselli, R., Lippa, C., Bigio, E. H., Wszolek, Z. K., Binetti, G., Mackenzie, I. R., Miller, B. L., Boeve, B. F., Younkin, S. G., Dickson, D. W., Petersen, R. C., Graff-Radford, N. R., Geschwind, D. H., and Rademakers, R. (2011) TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76, 467-474
-
(2011)
Neurology
, vol.76
, pp. 467-474
-
-
Finch, N.1
Carrasquillo, M.M.2
Baker, M.3
Rutherford, N.J.4
Coppola, G.5
Dejesus-Hernandez, M.6
Crook, R.7
Hunter, T.8
Ghidoni, R.9
Benussi, L.10
Crook, J.11
Finger, E.12
Hantanpaa, K.J.13
Karydas, A.M.14
Sengdy, P.15
Gonzalez, J.16
Seeley, W.W.17
Johnson, N.18
Beach, T.G.19
Mesulam, M.20
Forloni, G.21
Kertesz, A.22
Knopman, D.S.23
Uitti, R.24
White III, C.L.25
Caselli, R.26
Lippa, C.27
Bigio, E.H.28
Wszolek, Z.K.29
Binetti, G.30
Mackenzie, I.R.31
Miller, B.L.32
Boeve, B.F.33
Younkin, S.G.34
Dickson, D.W.35
Petersen, R.C.36
Graff-Radford, N.R.37
Geschwind, D.H.38
Rademakers, R.39
more..
-
32
-
-
79952148055
-
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
-
van der Zee, J., Van Langenhove, T., Kleinberger, G., Sleegers, K., Engelborghs, S., Vandenberghe, R., Santens, P., Van den Broeck, M., Joris, G., Brys, J., Mattheijssens, M., Peeters, K., Cras, P., De Deyn, P. P., Cruts, M., and Van Broeckhoven, C. (2011) TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain 134, 808-815
-
(2011)
Brain
, vol.134
, pp. 808-815
-
-
Van Der Zee, J.1
Van Langenhove, T.2
Kleinberger, G.3
Sleegers, K.4
Engelborghs, S.5
Vandenberghe, R.6
Santens, P.7
Van Den Broeck, M.8
Joris, G.9
Brys, J.10
Mattheijssens, M.11
Peeters, K.12
Cras, P.13
De Deyn, P.P.14
Cruts, M.15
Van Broeckhoven, C.16
-
33
-
-
80855131541
-
TMEM106B a Novel Risk Factor for Frontotemporal Lobar Degeneration
-
van der Zee, J., and Van Broeckhoven, C. (2011) TMEM106B a Novel Risk Factor for Frontotemporal Lobar Degeneration. J. Mol. Neurosci.,
-
(2011)
J. Mol. Neurosci.
-
-
Van Der Zee, J.1
Van Broeckhoven, C.2
-
34
-
-
79551543554
-
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, A. M., Sasse, F., Kunze, B., Steinmetz, H., Jansen, R., Dormann, D., Sleegers, K., Cruts, M., Herms, J., Van Broeckhoven, C., and Haass, C. (2011) Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase. J. Neurosci. 31, 1885-1894
-
(2011)
J. Neurosci.
, vol.31
, pp. 1885-1894
-
-
Capell, A.1
Liebscher, S.2
Fellerer, K.3
Brouwers, N.4
Willem, M.5
Lammich, S.6
Gijselinck, I.7
Bittner, T.8
Carlson, A.M.9
Sasse, F.10
Kunze, B.11
Steinmetz, H.12
Jansen, R.13
Dormann, D.14
Sleegers, K.15
Cruts, M.16
Herms, J.17
Van Broeckhoven, C.18
Haass, C.19
-
35
-
-
0020039866
-
Isolation of intracellular membranes by means of sodium carbonate treatment: Application to endoplasmic reticulum
-
DOI 10.1083/jcb.93.1.97
-
Fujiki, Y., Hubbard, A. L., Fowler, S., and Lazarow, P. B. (1982) Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum. J. Cell Biol. 93, 97-102 (Pubitemid 12117045)
-
(1982)
Journal of Cell Biology
, vol.93
, Issue.1
, pp. 97-102
-
-
Fujiki, Y.1
Hubbard, A.L.2
Fowler, S.3
Lazarow, P.B.4
-
36
-
-
44949133258
-
Immuno-precipitation
-
Chapter 9, Unit 9.8
-
Bonifacino, J. S., Dell'Angelica, E. C., and Springer, T. A. (2001) Immuno-precipitation. in Curr. Protoc. Protein Sci. Chapter 9, Unit 9.8
-
(2001)
Curr. Protoc. Protein Sci.
-
-
Bonifacino, J.S.1
Dell'Angelica, E.C.2
Springer, T.A.3
-
37
-
-
24144442691
-
Rab conversion as a mechanism of progression from early to late endosomes
-
DOI 10.1016/j.cell.2005.06.043, PII S0092867405006975
-
Rink, J., Ghigo, E., Kalaidzidis, Y., and Zerial, M. (2005) Rab conversion as a mechanism of progression from early to late endosomes. Cell 122, 735-749 (Pubitemid 41242638)
-
(2005)
Cell
, vol.122
, Issue.5
, pp. 735-749
-
-
Rink, J.1
Ghigo, E.2
Kalaidzidis, Y.3
Zerial, M.4
-
38
-
-
84155171976
-
Understanding the role of TDP-43 and FUS/TLS in ALS and beyond
-
Da Cruz, S., and Cleveland, D. W. (2011) Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr. Opin. Neurobiol. 21, 904-919
-
(2011)
Curr. Opin. Neurobiol.
, vol.21
, pp. 904-919
-
-
Da Cruz, S.1
Cleveland, D.W.2
-
40
-
-
69249227502
-
Lysosome biogenesis and lysosomal membrane proteins: Trafficking meets function
-
Saftig, P., and Klumperman, J. (2009) Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat. Rev. Mol. Cell Biol. 10, 623-635
-
(2009)
Nat. Rev. Mol. Cell Biol.
, vol.10
, pp. 623-635
-
-
Saftig, P.1
Klumperman, J.2
-
41
-
-
37849023471
-
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
-
van der Zee, J., Urwin, H., Engelborghs, S., Bruyland, M., Vandenberghe, R., Dermaut, B., De Pooter, T., Peeters, K., Santens, P., De Deyn, P. P., Fisher, E. M., Collinge, J., Isaacs, A. M., and Van Broeckhoven, C. (2008) CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum. Mol. Genet. 17, 313-322
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 313-322
-
-
Van Der Zee, J.1
Urwin, H.2
Engelborghs, S.3
Bruyland, M.4
Vandenberghe, R.5
Dermaut, B.6
De Pooter, T.7
Peeters, K.8
Santens, P.9
De Deyn, P.P.10
Fisher, E.M.11
Collinge, J.12
Isaacs, A.M.13
Van Broeckhoven, C.14
-
42
-
-
77956902003
-
CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines
-
Belly, A., Bodon, G., Blot, B., Bouron, A., Sadoul, R., and Goldberg, Y. (2010) CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines. J. Cell Sci. 123, 2943-2954
-
(2010)
J. Cell Sci.
, vol.123
, pp. 2943-2954
-
-
Belly, A.1
Bodon, G.2
Blot, B.3
Bouron, A.4
Sadoul, R.5
Goldberg, Y.6
-
43
-
-
77953583994
-
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
-
FReJA Consortium
-
Urwin, H., Authier, A., Nielsen, J. E., Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M., van der Zee, J., Bruyland, M., FReJA Consortium, Van Broeckhoven, C., Collinge, J., Brandner, S., Futter, C., and Isaacs, A. M. (2010) Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum. Mol. Genet. 19, 2228-2238
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2228-2238
-
-
Urwin, H.1
Authier, A.2
Nielsen, J.E.3
Metcalf, D.4
Powell, C.5
Froud, K.6
Malcolm, D.S.7
Holm, I.8
Johannsen, P.9
Brown, J.10
Fisher, E.M.11
Van Der Zee, J.12
Bruyland, M.13
Van Broeckhoven, C.14
Collinge, J.15
Brandner, S.16
Futter, C.17
Isaacs, A.M.18
-
44
-
-
78449286213
-
Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin
-
Hu, F., Padukkavidana, T., Vægter, C. B., Brady, O. A., Zheng, Y., Mackenzie, I. R., Feldman, H. H., Nykjaer, A., and Strittmatter, S. M. (2010) Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron 68, 654-667
-
(2010)
Neuron
, vol.68
, pp. 654-667
-
-
Hu, F.1
Padukkavidana, T.2
Vægter, C.B.3
Brady, O.A.4
Zheng, Y.5
Mackenzie, I.R.6
Feldman, H.H.7
Nykjaer, A.8
Strittmatter, S.M.9
-
45
-
-
35948983328
-
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease
-
DOI 10.1083/jcb.200702115
-
Filimonenko, M., Stuffers, S., Raiborg, C., Yamamoto, A., Malerød, L., Fisher, E. M., Isaacs, A., Brech, A., Stenmark, H., and Simonsen, A. (2007) Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J. Cell Biol. 179, 485-500 (Pubitemid 350074792)
-
(2007)
Journal of Cell Biology
, vol.179
, Issue.3
, pp. 485-500
-
-
Filimonenko, M.1
Stuffers, S.2
Raiborg, C.3
Yamamoto, A.4
Malerod, L.5
Fisher, E.M.C.6
Isaacs, A.7
Brech, A.8
Stenmark, H.9
Simonsen, A.10
-
46
-
-
38949214734
-
Roles of ESCRT in autophagy-associated neurodegeneration
-
Lee, J. A., and Gao, F. B. (2008) Roles of ESCRT in autophagy-associated neurodegeneration. Autophagy 4, 230-232
-
(2008)
Autophagy
, vol.4
, pp. 230-232
-
-
Lee, J.A.1
Gao, F.B.2
-
47
-
-
44349133382
-
ESCRT functions in autophagy and associated disease
-
Rusten, T. E., and Simonsen, A. (2008) ESCRT functions in autophagy and associated disease. Cell Cycle 7, 1166-1172 (Pubitemid 351749268)
-
(2008)
Cell Cycle
, vol.7
, Issue.9
, pp. 1166-1172
-
-
Rusten, T.E.1
Simonsen, A.2
-
48
-
-
0036830228
-
The neuropathogenic contributions of lysosomal dysfunction
-
DOI 10.1046/j.1471-4159.2002.01192.x
-
Bahr, B. A., and Bendiske, J. (2002) The neuropathogenic contributions of lysosomal dysfunction. J. Neurochem. 83, 481-489 (Pubitemid 35231802)
-
(2002)
Journal of Neurochemistry
, vol.83
, Issue.3
, pp. 481-489
-
-
Bahr, B.A.1
Bendiske, J.2
-
49
-
-
77953913051
-
Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer- related PS1 mutations
-
Lee, J. H., Yu, W. H., Kumar, A., Lee, S., Mohan, P. S., Peterhoff, C. M., Wolfe, D. M., Martinez-Vicente, M., Massey, A. C., Sovak, G., Uchiyama, Y., Westaway, D., Cuervo, A. M., and Nixon, R. A. (2010) Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer- related PS1 mutations. Cell 141, 1146-1158
-
(2010)
Cell
, vol.141
, pp. 1146-1158
-
-
Lee, J.H.1
Yu, W.H.2
Kumar, A.3
Lee, S.4
Mohan, P.S.5
Peterhoff, C.M.6
Wolfe, D.M.7
Martinez-Vicente, M.8
Massey, A.C.9
Sovak, G.10
Uchiyama, Y.11
Westaway, D.12
Cuervo, A.M.13
Nixon, R.A.14
-
50
-
-
79957663035
-
Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer's-like axonal dystrophy
-
Lee, S., Sato, Y., and Nixon, R. A. (2011) Lysosomal proteolysis inhibition selectively disrupts axonal transport of degradative organelles and causes an Alzheimer's-like axonal dystrophy. J. Neurosci. 31, 7817-7830
-
(2011)
J. Neurosci.
, vol.31
, pp. 7817-7830
-
-
Lee, S.1
Sato, Y.2
Nixon, R.A.3
-
51
-
-
79955969705
-
Autophagy failure in Alzheimer's disease-locating the primary defect
-
Nixon, R. A., and Yang, D. S. (2011) Autophagy failure in Alzheimer's disease-locating the primary defect. Neurobiol. Dis. 43, 38-45
-
(2011)
Neurobiol. Dis.
, vol.43
, pp. 38-45
-
-
Nixon, R.A.1
Yang, D.S.2
-
52
-
-
33750363298
-
The roles of intracellular protein-degradation pathways in neurodegeneration
-
Rubinsztein, D. C. (2006) The roles of intracellular protein-degradation pathways in neurodegeneration. Nature 443, 780-786
-
(2006)
Nature
, vol.443
, pp. 780-786
-
-
Rubinsztein, D.C.1
|