-
1
-
-
0029433185
-
Epidemiology of ALS
-
Nelson LM, (1995) Epidemiology of ALS. Clin Neurosci 3: 327-331.
-
(1995)
Clin Neurosci
, vol.3
, pp. 327-331
-
-
Nelson, L.M.1
-
2
-
-
33749056809
-
ALS: a disease of motor neurons and their nonneuronal neighbors
-
Boillee S, Van de Velde C, Cleveland DW, (2006) ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron 52: 39-59.
-
(2006)
Neuron
, vol.52
, pp. 39-59
-
-
Boillee, S.1
van de Velde, C.2
Cleveland, D.W.3
-
4
-
-
33747605320
-
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
-
Pasinelli P, Brown RH, (2006) Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 7: 710-723.
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 710-723
-
-
Pasinelli, P.1
Brown, R.H.2
-
5
-
-
0027164824
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen DR, (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 364: 362.
-
(1993)
Nature
, vol.364
, pp. 362
-
-
Rosen, D.R.1
-
6
-
-
37849007550
-
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?
-
Kabashi E, Valdmanis PN, Dion P, Rouleau GA, (2007) Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Ann Neurol 62: 553-559.
-
(2007)
Ann Neurol
, vol.62
, pp. 553-559
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Rouleau, G.A.4
-
7
-
-
4043075622
-
Lessons from models of SOD1-linked familial ALS
-
Bendotti C, Carri MT, (2004) Lessons from models of SOD1-linked familial ALS. Trends Mol Med 10: 393-400.
-
(2004)
Trends Mol Med
, vol.10
, pp. 393-400
-
-
Bendotti, C.1
Carri, M.T.2
-
8
-
-
34548740744
-
Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish
-
Lemmens R, Van Hoecke A, Hersmus N, Geelen V, D'Hollander I, et al. (2007) Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish. Hum Mol Genet 16: 2359-2365.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2359-2365
-
-
Lemmens, R.1
Van Hoecke, A.2
Hersmus, N.3
Geelen, V.4
D'Hollander, I.5
-
9
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, et al. (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40: 572-574.
-
(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
-
10
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672.
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
Hu, X.4
Vance, C.5
-
11
-
-
62149141328
-
Rethinking ALS: the FUS about TDP-43
-
Lagier-Tourenne C, Cleveland DW, (2009) Rethinking ALS: the FUS about TDP-43. Cell 136: 1001-1004.
-
(2009)
Cell
, vol.136
, pp. 1001-1004
-
-
Lagier-Tourenne, C.1
Cleveland, D.W.2
-
12
-
-
41949119043
-
TDP-43 A315T mutation in familial motor neuron disease
-
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, et al. (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63: 535-538.
-
(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
-
13
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211.
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
-
14
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski Jr., T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
-
16
-
-
77956850818
-
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
-
Mackenzie IR, Rademakers R, Neumann M, TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 9: 995-1007.
-
Lancet Neurol
, vol.9
, pp. 995-1007
-
-
Mackenzie, I.R.1
Rademakers, R.2
Neumann, M.3
-
17
-
-
77952111070
-
FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
-
Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, et al. (2009) FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry.
-
(2009)
J Neurol Neurosurg Psychiatry
-
-
Blair, I.P.1
Williams, K.L.2
Warraich, S.T.3
Durnall, J.C.4
Thoeng, A.D.5
-
18
-
-
77949760219
-
Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis
-
Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, et al. (2009) Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis. J Med Genet.
-
(2009)
J Med Genet
-
-
Corrado, L.1
Del Bo, R.2
Castellotti, B.3
Ratti, A.4
Cereda, C.5
-
19
-
-
70350045802
-
Mutations in FUS cause FALS and SALS in French and French Canadian populations
-
Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, et al. (2009) Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 73: 1176-1179.
-
(2009)
Neurology
, vol.73
, pp. 1176-1179
-
-
Belzil, V.V.1
Valdmanis, P.N.2
Dion, P.A.3
Daoud, H.4
Kabashi, E.5
-
20
-
-
67349155310
-
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
-
Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, et al. (2009) Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 30: 1272-1275.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1272-1275
-
-
Chio, A.1
Restagno, G.2
Brunetti, M.3
Ossola, I.4
Calvo, A.5
-
21
-
-
70350156915
-
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
-
Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, et al. (2009) Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology 73: 1180-1185.
-
(2009)
Neurology
, vol.73
, pp. 1180-1185
-
-
Ticozzi, N.1
Silani, V.2
LeClerc, A.L.3
Keagle, P.4
Gellera, C.5
-
22
-
-
79952901359
-
A de novo missense mutation of the FUS gene in a "true" sporadic ALS case
-
Chio A, Calvo A, Moglia C, Ossola I, Brunetti M, et al. (2010) A de novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging.
-
(2010)
Neurobiol Aging
-
-
Chio, A.1
Calvo, A.2
Moglia, C.3
Ossola, I.4
Brunetti, M.5
-
23
-
-
77956357112
-
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
-
Yan J, Deng HX, Siddique N, Fecto F, Chen W, et al. (2010) Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology 75: 807-814.
-
(2010)
Neurology
, vol.75
, pp. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
-
24
-
-
77955396350
-
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
-
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, et al. (2010) SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 47: 554-560.
-
(2010)
J Med Genet
, vol.47
, pp. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
Gordon, P.4
Bricka, B.5
-
25
-
-
77955127561
-
Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis
-
Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, et al. (2010) Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis. Muscle Nerve 42: 170-176.
-
(2010)
Muscle Nerve
, vol.42
, pp. 170-176
-
-
Rademakers, R.1
Stewart, H.2
Dejesus-Hernandez, M.3
Krieger, C.4
Graff-Radford, N.5
-
26
-
-
77952107930
-
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation
-
Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, et al. (2010) Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol 119: 355-364.
-
(2010)
Acta Neuropathol
, vol.119
, pp. 355-364
-
-
Tateishi, T.1
Hokonohara, T.2
Yamasaki, R.3
Miura, S.4
Kikuchi, H.5
-
27
-
-
77951712967
-
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
-
Suzuki N, Aoki M, Warita H, Kato M, Mizuno H, et al. (2010) FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet 55: 252-254.
-
(2010)
J Hum Genet
, vol.55
, pp. 252-254
-
-
Suzuki, N.1
Aoki, M.2
Warita, H.3
Kato, M.4
Mizuno, H.5
-
28
-
-
77956850818
-
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
-
Mackenzie IR, Rademakers R, Neumann M, (2010) TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 9: 995-1007.
-
(2010)
Lancet Neurol
, vol.9
, pp. 995-1007
-
-
Mackenzie, I.R.1
Rademakers, R.2
Neumann, M.3
-
29
-
-
65649112431
-
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
-
Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, et al. (2009) TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol 65: 470-473.
-
(2009)
Ann Neurol
, vol.65
, pp. 470-473
-
-
Benajiba, L.1
Le Ber, I.2
Camuzat, A.3
Lacoste, M.4
Thomas-Anterion, C.5
-
30
-
-
70350721803
-
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease
-
Borroni B, Bonvicini C, Alberici A, Buratti E, Agosti C, et al. (2009) Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat 30: E974-983.
-
(2009)
Hum Mutat
, vol.30
-
-
Borroni, B.1
Bonvicini, C.2
Alberici, A.3
Buratti, E.4
Agosti, C.5
-
32
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
Van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, et al. (2010) Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74: 366-371.
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
Van Langenhove, T.1
van der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
-
33
-
-
77952932485
-
FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis
-
Deng HX, Zhai H, Bigio EH, Yan J, Fecto F, et al. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann Neurol 67: 739-748.
-
Ann Neurol
, vol.67
, pp. 739-748
-
-
Deng, H.X.1
Zhai, H.2
Bigio, E.H.3
Yan, J.4
Fecto, F.5
-
34
-
-
34249946466
-
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
-
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, et al. (2007) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61: 427-434.
-
(2007)
Ann Neurol
, vol.61
, pp. 427-434
-
-
Mackenzie, I.R.1
Bigio, E.H.2
Ince, P.G.3
Geser, F.4
Neumann, M.5
-
35
-
-
80052385635
-
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
-
Ling SC, Albuquerque CP, Han JS, Lagier-Tourenne C, Tokunaga S, et al. ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proc Natl Acad Sci U S A.
-
Proc Natl Acad Sci U S A
-
-
Ling, S.C.1
Albuquerque, C.P.2
Han, J.S.3
Lagier-Tourenne, C.4
Tokunaga, S.5
-
36
-
-
77958604956
-
Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA
-
Kim SH, Shanware NP, Bowler MJ, Tibbetts RS, (2010) Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA. J Biol Chem 285: 34097-34105.
-
(2010)
J Biol Chem
, vol.285
, pp. 34097-34105
-
-
Kim, S.H.1
Shanware, N.P.2
Bowler, M.J.3
Tibbetts, R.S.4
-
37
-
-
79958720175
-
A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43
-
Lanson NA Jr, Maltare A, King H, Smith R, Kim JH, et al. (2011) A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum Mol Genet.
-
(2011)
Hum Mol Genet
-
-
Lanson Jr., N.A.1
Maltare, A.2
King, H.3
Smith, R.4
Kim, J.H.5
-
38
-
-
75649135319
-
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6
-
Fiesel FC, Voigt A, Weber SS, Van den Haute C, Waldenmaier A, et al. (2010) Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6. EMBO J 29: 209-221.
-
(2010)
EMBO J
, vol.29
, pp. 209-221
-
-
Fiesel, F.C.1
Voigt, A.2
Weber, S.S.3
Van den Haute, C.4
Waldenmaier, A.5
-
39
-
-
79953185674
-
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
-
Polymenidou M, Lagier-Tourenne C, Hutt KR, Huelga SC, Moran J, et al. (2011) Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nat Neurosci 14: 459-468.
-
(2011)
Nat Neurosci
, vol.14
, pp. 459-468
-
-
Polymenidou, M.1
Lagier-Tourenne, C.2
Hutt, K.R.3
Huelga, S.C.4
Moran, J.5
-
40
-
-
59549094064
-
Structural determinants of the cellular localization and shuttling of TDP-43
-
Ayala YM, Zago P, D'Ambrogio A, Xu YF, Petrucelli L, et al. (2008) Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci 121: 3778-3785.
-
(2008)
J Cell Sci
, vol.121
, pp. 3778-3785
-
-
Ayala, Y.M.1
Zago, P.2
D'Ambrogio, A.3
Xu, Y.F.4
Petrucelli, L.5
-
41
-
-
77957317483
-
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation
-
Buratti E, Baralle FE, (2010) The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biol 7: 420-429.
-
(2010)
RNA Biol
, vol.7
, pp. 420-429
-
-
Buratti, E.1
Baralle, F.E.2
-
42
-
-
33745602748
-
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
-
Park J, Lee SB, Lee S, Kim Y, Song S, et al. (2006) Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441: 1157-1161.
-
(2006)
Nature
, vol.441
, pp. 1157-1161
-
-
Park, J.1
Lee, S.B.2
Lee, S.3
Kim, Y.4
Song, S.5
-
43
-
-
33745586290
-
Neurodegenerative disease: pink, parkin and the brain
-
Pallanck L, Greenamyre JT, (2006) Neurodegenerative disease: pink, parkin and the brain. Nature 441: 1058.
-
(2006)
Nature
, vol.441
, pp. 1058
-
-
Pallanck, L.1
Greenamyre, J.T.2
-
44
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-1160.
-
(2004)
Science
, vol.304
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.4
Harvey, K.5
-
45
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, et al. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605-608.
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
-
46
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075.
-
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
Chen-Plotkin, A.S.4
Johnson, B.S.5
-
47
-
-
33845991876
-
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
-
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, et al. (2007) Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80: 152-161.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 152-161
-
-
Valdmanis, P.N.1
Meijer, I.A.2
Reynolds, A.3
Lei, A.4
MacLeod, P.5
-
48
-
-
78149429744
-
Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy
-
doi: 10.1371/journal.pone.0013368
-
Laird AS, Van Hoecke A, De Muynck L, Timmers M, Van den Bosch L, et al. Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy. PLoS ONE 5: e13368 doi:10.1371/journal.pone.0013368.
-
PLoS ONE
, vol.5
-
-
Laird, A.S.1
Van Hoecke, A.2
De Muynck, L.3
Timmers, M.4
Van den Bosch, L.5
-
49
-
-
49649085351
-
Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish
-
Gros-Louis F, Kriz J, Kabashi E, McDearmid J, Millecamps S, et al. (2008) Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Hum Mol Genet 17: 2691-2702.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2691-2702
-
-
Gros-Louis, F.1
Kriz, J.2
Kabashi, E.3
McDearmid, J.4
Millecamps, S.5
-
50
-
-
77950360176
-
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo
-
Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, et al. (2010) Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet 19: 671-683.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 671-683
-
-
Kabashi, E.1
Lin, L.2
Tradewell, M.L.3
Dion, P.A.4
Bercier, V.5
-
51
-
-
58749097964
-
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
-
Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, et al. (2009) Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 18: 472-481.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 472-481
-
-
Simpson, C.L.1
Lemmens, R.2
Miskiewicz, K.3
Broom, W.J.4
Hansen, V.K.5
-
52
-
-
77956496676
-
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
-
Ramesh T, Lyon AN, Pineda RH, Wang C, Janssen PM, et al. A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Dis Model Mech 3: 652-662.
-
Dis Model Mech
, vol.3
, pp. 652-662
-
-
Ramesh, T.1
Lyon, A.N.2
Pineda, R.H.3
Wang, C.4
Janssen, P.M.5
-
54
-
-
79551472601
-
Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS
-
Ito D, Seki M, Tsunoda Y, Uchiyama H, Suzuki N, (2011) Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS. Ann Neurol 69: 152-162.
-
(2011)
Ann Neurol
, vol.69
, pp. 152-162
-
-
Ito, D.1
Seki, M.2
Tsunoda, Y.3
Uchiyama, H.4
Suzuki, N.5
-
55
-
-
77957875397
-
Nuclear localization sequence of FUS and induction of stress granules by ALS mutants
-
Gal J, Zhang J, Kwinter DM, Zhai J, Jia H, et al. (2010) Nuclear localization sequence of FUS and induction of stress granules by ALS mutants. Neurobiol Aging.
-
(2010)
Neurobiol Aging
-
-
Gal, J.1
Zhang, J.2
Kwinter, D.M.3
Zhai, J.4
Jia, H.5
-
56
-
-
77449136874
-
The TET family of proteins: functions and roles in disease
-
Tan AY, Manley JL, (2009) The TET family of proteins: functions and roles in disease. J Mol Cell Biol 1: 82-92.
-
(2009)
J Mol Cell Biol
, vol.1
, pp. 82-92
-
-
Tan, A.Y.1
Manley, J.L.2
-
57
-
-
79952585425
-
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis
-
Ticozzi N, Vance C, Leclerc AL, Keagle P, Glass JD, et al. (2011) Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am J Med Genet B Neuropsychiatr Genet.
-
(2011)
Am J Med Genet B Neuropsychiatr Genet
-
-
Ticozzi, N.1
Vance, C.2
Leclerc, A.L.3
Keagle, P.4
Glass, J.D.5
-
58
-
-
15844393658
-
Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
-
Reaume AG, Elliott JL, Hoffman EK, Kowall NW, Ferrante RJ, et al. (1996) Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 13: 43-47.
-
(1996)
Nat Genet
, vol.13
, pp. 43-47
-
-
Reaume, A.G.1
Elliott, J.L.2
Hoffman, E.K.3
Kowall, N.W.4
Ferrante, R.J.5
-
59
-
-
77957867303
-
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
-
Bosco DA, Lemay N, Ko HK, Zhou H, Burke C, et al. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Hum Mol Genet 19: 4160-4175.
-
Hum Mol Genet
, vol.19
, pp. 4160-4175
-
-
Bosco, D.A.1
Lemay, N.2
Ko, H.K.3
Zhou, H.4
Burke, C.5
-
60
-
-
74949135753
-
Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis
-
Barmada SJ, Skibinski G, Korb E, Rao EJ, Wu JY, et al. Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci 30: 639-649.
-
J Neurosci
, vol.30
, pp. 639-649
-
-
Barmada, S.J.1
Skibinski, G.2
Korb, E.3
Rao, E.J.4
Wu, J.Y.5
-
61
-
-
77955792022
-
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
-
Dormann D, Rodde R, Edbauer D, Bentmann E, Fischer I, et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J 29: 2841-2857.
-
EMBO J
, vol.29
, pp. 2841-2857
-
-
Dormann, D.1
Rodde, R.2
Edbauer, D.3
Bentmann, E.4
Fischer, I.5
-
62
-
-
78149461229
-
Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue
-
doi: 10.1371/journal.pone.0013250
-
Liu-Yesucevitz L, Bilgutay A, Zhang YJ, Vanderwyde T, Citro A, et al. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue. PLoS ONE 5: e3250 doi:10.1371/journal.pone.0013250.
-
PLoS ONE
, vol.5
-
-
Liu-Yesucevitz, L.1
Bilgutay, A.2
Zhang, Y.J.3
Vanderwyde, T.4
Citro, A.5
-
63
-
-
70350135049
-
TDP-43 is recruited to stress granules in conditions of oxidative insult
-
Colombrita C, Zennaro E, Fallini C, Weber M, Sommacal A, et al. (2009) TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem 111: 1051-1061.
-
(2009)
J Neurochem
, vol.111
, pp. 1051-1061
-
-
Colombrita, C.1
Zennaro, E.2
Fallini, C.3
Weber, M.4
Sommacal, A.5
-
64
-
-
79959869692
-
FUS/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis
-
Kryndushkin D, Wickner RB, Shewmaker F, FUS/TLS forms cytoplasmic aggregates, inhibits cell growth and interacts with TDP-43 in a yeast model of amyotrophic lateral sclerosis. Protein Cell 2: 223-236.
-
Protein Cell
, vol.2
, pp. 223-236
-
-
Kryndushkin, D.1
Wickner, R.B.2
Shewmaker, F.3
-
65
-
-
79953183632
-
Expression of human FUS/TLS in yeast leads to protein aggregation and cytotoxicity, recapitulating key features of FUS proteinopathy
-
Fushimi K, Long C, Jayaram N, Chen X, Li L, et al. Expression of human FUS/TLS in yeast leads to protein aggregation and cytotoxicity, recapitulating key features of FUS proteinopathy. Protein Cell 2: 141-149.
-
Protein Cell
, vol.2
, pp. 141-149
-
-
Fushimi, K.1
Long, C.2
Jayaram, N.3
Chen, X.4
Li, L.5
-
66
-
-
77953890823
-
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne C, Polymenidou M, Cleveland DW, (2010) TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet 19: R46-64.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
67
-
-
34848921202
-
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43
-
Zhang YJ, Xu YF, Dickey CA, Buratti E, Baralle F, et al. (2007) Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 27: 10530-10534.
-
(2007)
J Neurosci
, vol.27
, pp. 10530-10534
-
-
Zhang, Y.J.1
Xu, Y.F.2
Dickey, C.A.3
Buratti, E.4
Baralle, F.5
-
68
-
-
56049083010
-
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
-
Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, et al. (2008) Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet 17: 3631-3642.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3631-3642
-
-
Rademakers, R.1
Eriksen, J.L.2
Baker, M.3
Robinson, T.4
Ahmed, Z.5
-
69
-
-
78651299905
-
Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures
-
Kleinberger G, Wils H, Ponsaerts P, Joris G, Timmermans JP, et al. (2010) Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures. J Neurochem 115: 735-747.
-
(2010)
J Neurochem
, vol.115
, pp. 735-747
-
-
Kleinberger, G.1
Wils, H.2
Ponsaerts, P.3
Joris, G.4
Timmermans, J.P.5
-
70
-
-
77953194507
-
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97
-
Ritson GP, Custer SK, Freibaum BD, Guinto JB, Geffel D, et al. TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci 30: 7729-7739.
-
J Neurosci
, vol.30
, pp. 7729-7739
-
-
Ritson, G.P.1
Custer, S.K.2
Freibaum, B.D.3
Guinto, J.B.4
Geffel, D.5
-
71
-
-
66449134941
-
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death
-
Gitcho MA, Strider J, Carter D, Taylor-Reinwald L, Forman MS, et al. (2009) VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. J Biol Chem 284: 12384-12398.
-
(2009)
J Biol Chem
, vol.284
, pp. 12384-12398
-
-
Gitcho, M.A.1
Strider, J.2
Carter, D.3
Taylor-Reinwald, L.4
Forman, M.S.5
-
72
-
-
78649941297
-
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
-
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, et al. (2010) Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS. Neuron 68: 857-864.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
-
73
-
-
0034841786
-
Double in situ hybridization techniques in zebrafish
-
Jowett T, (2001) Double in situ hybridization techniques in zebrafish. Methods 23: 345-358.
-
(2001)
Methods
, vol.23
, pp. 345-358
-
-
Jowett, T.1
|