-
1
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
NeumannM, Sampathu DM, Kwong LK, Truax AC,Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, FeidenW, Kretzschmar HA, Trojanowski JQ, Lee VM (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130133.
-
(2006)
Science
, 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
-
2
-
-
33750716074
-
TDP-43 is a component of ubiquitinpositive taunegative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Arai T, HasegawaM, Akiyama H, Ikeda K, Nonaka T,Mori H, Mann D, Tsuchiya K, YoshidaM, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitinpositive taunegative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351, 602611.
-
(2006)
Biochem Biophys Res Commun
, vol.351
, pp. 602-611
-
-
Arai, T.1
Hasegawa, M.2
Akiyama, H.3
Ikeda, K.4
Nonaka, T.5
Mori, H.6
Mann, D.7
Tsuchiya, K.8
Yoshida, M.9
Hashizume, Y.10
Oda, T.11
-
3
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande VC, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40, 572574.
-
(2008)
Nat Genet
, vol.40
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Vande, V.C.6
Bouchard, J.P.7
Lacomblez, L.8
Pochigaeva, K.9
Salachas, F.10
Pradat, P.F.11
Camu, W.12
Meininger, V.13
Dupre, N.14
Rouleau, G.A.15
-
4
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de BJ, Mitchell JD, Leigh PN, AlChalabi A, Miller CC, Nicholson G, Shaw CE (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 16681672.
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
Hu, X.4
Vance, C.5
Rogelj, B.6
Ackerley, S.7
Durnall, J.C.8
Williams, K.L.9
Buratti, E.10
Baralle, F.11
De, B.J.12
Mitchell, J.D.13
Leigh P, N.14
AlChalabi, A.15
Miller, C.C.16
Nicholson, G.17
Shaw, C.E.18
-
5
-
-
41949119043
-
TDP-43 A315T mutation in familial motor neuron disease
-
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL, III, Bigio EH, Caselli R, Baker M, AlLozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63, 535538.
-
(2008)
Ann Neurol
, vol.63
, pp. 535-538
-
-
Gitcho, M.A.1
Baloh, R.H.2
Chakraverty, S.3
Mayo, K.4
Norton, J.B.5
Levitch, D.6
Hatanpaa, K.J.7
White, C.L.8
Bigio III, E.H.9
Caselli, R.10
Baker, M.11
AlLozi, M.T.12
Morris, J.C.13
Pestronk, A.14
Rademakers, R.15
Goate, A.M.16
Cairns, N.J.17
-
6
-
-
42949094584
-
TDP-43 mutation in familial amyotrophic lateral sclerosis
-
DOI 10.1002/ana.21392
-
Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O (2008) TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63, 538542. (Pubitemid 351614721)
-
(2008)
Annals of Neurology
, vol.63
, Issue.4
, pp. 538-542
-
-
Yokoseki, A.1
Shiga, A.2
Tan, C.-F.3
Tagawa, A.4
Kaneko, H.5
Koyama, A.6
Eguchi, H.7
Tsujino, A.8
Ikeuchi, T.9
Kakita, A.10
Okamoto, K.11
Nishizawa, M.12
Takahashi, H.13
Onodera, O.14
-
7
-
-
0029066110
-
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs
-
Ou SH, Wu F, Harrich D, GarciaMartinez LF, Gaynor RB (1995)Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 69, 35843596.
-
(1995)
J Virol
, vol.69
, pp. 3584-3596
-
-
Ou, S.H.1
Wu, F.2
Harrich, D.3
GarciaMartinez, L.F.4
Gaynor, R.B.5
-
8
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 20, 17741784.
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
Dork, T.2
Zuccato, E.3
Pagani, F.4
Romano, M.5
Baralle, F.E.6
-
9
-
-
0037108967
-
Higher order arrangement of the eukaryotic nuclear bodies
-
Wang IF, Reddy NM, Shen CK (2002) Higher order arrangement of the eukaryotic nuclear bodies. Proc Natl Acad Sci U S A 99, 1358313588.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 13583-13588
-
-
Wang, I.F.1
Reddy, N.M.2
Shen, C.K.3
-
10
-
-
34249949338
-
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease
-
AmadorOrtiz C, Lin WL, Ahmed Z, Personett D, Davies P, Duara R, GraffRadford NR, Hutton ML, Dickson DW (2007) TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 61, 435445.
-
(2007)
Ann Neurol
, vol.61
, pp. 435-445
-
-
AmadorOrtiz, C.1
Lin, W.L.2
Ahmed, Z.3
Personett, D.4
Davies, P.5
Duara, R.6
GraffRadford, N.R.7
Hutton, M.L.8
Dickson, D.W.9
-
11
-
-
36348972414
-
Concurrence of TDP-43, tau and alphasynuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies
-
Higashi S, Iseki E, Yamamoto R, Minegishi M, Hino H, Fujisawa K, Togo T, Katsuse O, Uchikado H, Furukawa Y, Kosaka K, Arai H (2007) Concurrence of TDP-43, tau and alphasynuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies. Brain Res 1184, 284294.
-
(2007)
Brain Res
, vol.1184
, pp. 284-294
-
-
Higashi, S.1
Iseki, E.2
Yamamoto, R.3
Minegishi, M.4
Hino, H.5
Fujisawa, K.6
Togo, T.7
Katsuse, O.8
Uchikado, H.9
Furukawa, Y.10
Kosaka, K.11
Arai, H.12
-
12
-
-
44649137415
-
Concomitant TARDNAbinding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies
-
UryuK,NakashimaYasudaH, FormanMS,Kwong LK, Clark CM, GrossmanM,Miller BL, Kretzschmar HA, Lee VM, Trojanowski JQ, Neumann M (2008) Concomitant TARDNAbinding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol 67, 555564.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 555-564
-
-
Uryu, K.1
Nakashima-Yasuda, H.2
Forman, M.S.3
Kwong, L.K.4
Clark, C.M.5
Grossman, M.6
Miller, B.L.7
Kretzschmar, H.A.8
Lee, V.M.9
Trojanowski, J.Q.10
Neumann, M.11
-
13
-
-
59249097160
-
Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies
-
Arai T, Mackenzie IR, Hasegawa M, Nonoka T, Niizato K, Tsuchiya K, Iritani S, Onaya M, Akiyama H (2009) Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies. Acta Neuropathol 117, 125136.
-
(2009)
Acta Neuropathol
, vol.117
, pp. 125-136
-
-
Arai, T.1
Mackenzie, I.R.2
Hasegawa, M.3
Nonoka, T.4
Niizato, K.5
Tsuchiya, K.6
Iritani, S.7
Onaya, M.8
Akiyama, H.9
-
14
-
-
58149398638
-
Colocalization of transactivationresponsive DNA-binding protein 43 and huntingtin in inclusions of huntington disease
-
Schwab C, Arai T, Hasegawa M, Yu S, McGeer PL (2008) Colocalization of transactivationresponsive DNAbinding protein 43 and huntingtin in inclusions of Huntington disease. J Neuropathol Exp Neurol 67, 11591165.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 1159-1165
-
-
Schwab, C.1
Arai, T.2
Hasegawa, M.3
Yu, S.4
McGeer, P.L.5
-
15
-
-
47949108734
-
TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration
-
Foulds P, McAuley E, Gibbons L, Davidson Y, PickeringBrown SM,NearyD, Snowden JS,AllsopD,MannDM(2008) TDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer's disease and frontotemporal lobar degeneration. Acta Neuropathol 116, 141146.
-
(2008)
Acta Neuropathol
, vol.116
, pp. 141-146
-
-
Foulds, P.1
McAuley, E.2
Gibbons, L.3
Davidson, Y.4
Pickering-Brown, S.M.5
Neary, D.6
Snowden, J.S.7
Allsop, D.8
Mann, D.M.9
-
16
-
-
0041704541
-
Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects
-
Engelborghs S, Dermaut B, Goeman J, Saerens J, Marien P, Pickut BA, Van den BM, Serneels S, Cruts M, Van Broeckhoven C, De Deyn PP (2003) Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J Neurol Neurosurg Psychiatry 74, 11481151.
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 1148-1151
-
-
Engelborghs, S.1
Dermaut, B.2
Goeman, J.3
Saerens, J.4
Marien, P.5
Pickut, B.A.6
Van Den, B.M.7
Serneels, S.8
Cruts, M.9
Van Broeckhoven, C.10
De Deyn, P.P.11
-
17
-
-
29844437091
-
Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia
-
Engelborghs S, Dermaut B, Marien P, Symons A, Vloeberghs E,Maertens K, Somers N, Goeman J, Rademakers R, Van den BM, Pickut B, Cruts M, Van Broeckhoven C, De Deyn PP (2006) Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. Neurobiol Aging 27, 285292.
-
(2006)
Neurobiol Aging
, vol.27
, pp. 285-292
-
-
Engelborghs, S.1
Dermaut, B.2
Marien, P.3
Symons, A.4
Vloeberghs, E.5
Maertens, K.6
Somers, N.7
Goeman, J.8
Rademakers, R.9
Van Den, B.M.10
Pickut, B.11
Cruts, M.12
Van Broeckhoven, C.13
De Deyn, P.P.14
-
18
-
-
0016823810
-
Minimental state. A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, McHugh PR (1975) "Minimental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12, 189198.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
19
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: Report of the NINCDSADRDA work group under the auspices of department of health and Human services task force on Alzheimer's Disease
-
McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM(1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDSADRDA Work Group under the auspices ofDepartment ofHealth andHuman Services Task Force on Alzheimer's Disease. Neurology 34, 939944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
Katzman, R.4
Price, D.5
Stadlan, E.M.6
-
20
-
-
11844289650
-
The middelheim frontality score: A behavioural assessment scale that discriminates frontotemporal dementia from Alzheimer's disease
-
De Deyn PP, Engelborghs S, Saerens J, Goeman J, Marien P, Maertens K, Nagels G, Martin JJ, Pickut BA (2005) The Middelheim Frontality Score: A behavioural assessment scale that discriminates frontotemporal dementia from Alzheimer's disease. Int J Geriatr Psychiatry 20, 7079.
-
(2005)
Int J Geriatr Psychiatry
, vol.20
, pp. 70-79
-
-
De Deyn, P.P.1
Engelborghs, S.2
Saerens, J.3
Goeman, J.4
Marien, P.5
Maertens, K.6
Nagels, G.7
Martin, J.J.8
Pickut, B.A.9
-
21
-
-
34548292987
-
No association of CSF biomarkers with APOE epsilon4, plaque and tangle burden in definite Alzheimer's disease
-
Engelborghs S, SleegersK, Cras P, BrouwersN, Serneels S,De LE, Martin JJ, Vanmechelen E, Van BC, De Deyn PP (2007) No association ofCSF biomarkerswithAPOEepsilon4, plaque and tangle burden in definite Alzheimer's disease. Brain 130, 23202326.
-
(2007)
Brain
, vol.130
, pp. 2320-2326
-
-
Engelborghs, S.1
Sleegers, K.2
Cras, P.3
Brouwers, N.4
Serneels, S.5
De, L.E.6
Martin, J.J.7
Van Mechelen, E.8
Van, B.C.9
De Deyn, P.P.10
-
22
-
-
67349161628
-
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
-
Gijselinck I, SleegersK, Engelborghs S,RobberechtW,Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der ZJ, De PT, DelFavero J, Santens P, De JP, De Deyn PP, Van BC, Cruts M (2009) Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging 30, 13291331.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1329-1331
-
-
Gijselinck, I.1
Sleegers, K.2
Engelborghs, S.3
Robberecht, W.4
Martin, J.J.5
Vandenberghe, R.6
Sciot, R.7
Dermaut, B.8
Goossens, D.9
Van Der, Z.J.10
De, P.T.11
Del Favero, J.12
Santens, P.13
De, J.P.14
De Deyn, P.P.15
Van, B.C.16
Cruts, M.17
-
23
-
-
15544369976
-
Novo SNP, a novel computational tool for sequence variation discovery
-
Weckx S, Del Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P (2005) novoSNP, a novel computational tool for sequence variation discovery. Genome Res 15, 436442.
-
(2005)
Genome Res
, vol.15
, pp. 436-442
-
-
Weckx, S.1
Del Favero, J.2
Rademakers, R.3
Claes, L.4
Cruts, M.5
De Jonghe, P.6
Van Broeckhoven, C.7
De Rijk, P.8
-
24
-
-
33750588301
-
Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease
-
Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, Serneels S, Kamali K, Corsmit E, De Leenheir E, Martin JJ, De Deyn PP, Van Broeckhoven C, Theuns J (2006) Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease. Brain 129, 29842991.
-
(2006)
Brain
, vol.129
, pp. 2984-2991
-
-
Brouwers, N.1
Sleegers, K.2
Engelborghs, S.3
Bogaerts, V.4
Serneels, S.5
Kamali, K.6
Corsmit, E.7
De Leenheir, E.8
Martin, J.J.9
De Deyn, P.P.10
Van Broeckhoven, C.11
Theuns, J.12
-
26
-
-
0036155283
-
Score tests for association between traits and haplotypes when linkage phase is ambiguous
-
Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70, 425434.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 425-434
-
-
Schaid, D.J.1
Rowland, C.M.2
Tines, D.E.3
Jacobson, R.M.4
Poland, G.A.5
-
27
-
-
48749087900
-
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
-
Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ (2008) TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS ONE 3, e2450.
-
(2008)
PLoS ONE
, vol.3
-
-
Guerreiro, R.J.1
Schymick, J.C.2
Crews, C.3
Singleton, A.4
Hardy, J.5
Traynor, B.J.6
-
28
-
-
44749093657
-
A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro
-
Winton MJ, Van D, V, Kwong LK, Yuan W, Wood EM, Yu CE, Schellenberg GD, Rademakers R, Caselli R, Karydas A, Trojanowski JQ, Miller BL, Lee VM (2008) A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett 582, 22522256.
-
(2008)
FEBS Lett
, vol.582
, pp. 2252-2256
-
-
Winton, M.J.1
Van, D.V.2
Kwong, L.K.3
Yuan, W.4
Wood, E.M.5
Yu, C.E.6
Schellenberg, G.D.7
Rademakers, R.8
Caselli, R.9
Karydas, A.10
Trojanowski, J.Q.11
Miller, B.L.12
Lee, V.M.13
-
29
-
-
44749091997
-
Disturbance of nuclear and cytoplasmic TAR DNA binding protein (TDP-43) induces diseaselike redistribution, sequestration, and aggregate formation
-
Winton MJ, Igaz LM, Wong MM, Kwong LK, Trojanowski JQ, Lee VM (2008) Disturbance of nuclear and cytoplasmic TAR DNAbinding protein (TDP-43) induces diseaselike redistribution, sequestration, and aggregate formation. J Biol Chem 283, 1330213309.
-
(2008)
J Biol Chem
, vol.283
, pp. 13302-13309
-
-
Winton, M.J.1
Igaz, L.M.2
Wong, M.M.3
Kwong, L.K.4
Trojanowski, J.Q.5
Lee, V.M.6
-
30
-
-
27844514227
-
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its Cterminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
-
Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE (2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its Cterminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280, 3757237584.
-
(2005)
J Biol Chem
, vol.280
, pp. 37572-37584
-
-
Buratti, E.1
Brindisi, A.2
Giombi, M.3
Tisminetzky, S.4
Ayala, Y.M.5
Baralle, F.E.6
-
31
-
-
56049111858
-
No association of TDP-43 with sporadic frontotemporal dementia
-
Schumacher A, Friedrich P, ehlSchmid J, Ibach B, Perneczky R, EiseleT,VukovichR, FoerstlH,RiemenschneiderM(2009) No association of TDP-43 with sporadic frontotemporal dementia. Neurobiol Aging 30, 157159.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 157-159
-
-
Schumacher, A.1
Friedrich, P.2
EhlSchmid, J.3
Ibach, B.4
Perneczky, R.5
Eisele, T.6
Vukovich, R.7
Foerstl, H.8
Riemenschneider, M.9
-
32
-
-
34247868841
-
TDP-43 gene analysis in frontotemporal lobar degeneration
-
DOI 10.1016/j.neulet.2007.03.044, PII S030439400700362X
-
Rollinson S, Snowden JS, Neary D, Morrison KE,Mann DM, PickeringBrown SM (2007) TDP-43 gene analysis in frontotemporal lobar degeneration. Neurosci Lett 419, 14. (Pubitemid 46694103)
-
(2007)
Neuroscience Letters
, vol.419
, Issue.1
, pp. 1-4
-
-
Rollinson, S.1
Snowden, J.S.2
Neary, D.3
Morrison, K.E.4
Mann, D.M.A.5
Pickering-Brown, S.M.6
|