-
1
-
-
84863056840
-
Amyotrophic lateral sclerosis overview lou gehrigs disease
-
(Updated 07/28/2009). Copyright, University of Washington, Seattle. 1997-2011 Accessed [1/13/11]
-
Donkervoort S, Siddique T. (Updated 07/28/2009). Amyotrophic Lateral Sclerosis Overview Lou Gehrigs Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org. Accessed [1/13/11].
-
(2009)
GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)
-
-
Donkervoort, S.1
Siddique, T.2
-
2
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
DOI 10.1038/362059a0
-
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59-62. (Pubitemid 23087289)
-
(1993)
Nature
, vol.362
, Issue.6415
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.-X.10
Rahmani, Z.11
Krizus, A.12
McKenna-Yasek, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
-
3
-
-
79952840023
-
Genetics of familial amyotrophic lateral sclerosis
-
Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, et al. Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65-82.
-
(2011)
Arch Ital Biol
, vol.149
, pp. 65-82
-
-
Ticozzi, N.1
Tiloca, C.2
Morelli, C.3
Colombrita, C.4
Poletti, B.5
Doretti, A.6
-
4
-
-
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, Camuzat A, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010;47: 554-60.
-
(2010)
J Med Genet
, vol.47
, pp. 554-60
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
Gordon, P.4
Bricka, B.5
Camuzat, A.6
-
5
-
-
0035575761
-
Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: Associated mutations develop motor neuron disease
-
Nagai M, Aoki M, Miyoshi I, Kato M, Pasinelli P, Kasai N, et al. Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: associated mutations develop motor neuron disease. J Neurosci. 2001;21:9246-54. (Pubitemid 33096868)
-
(2001)
Journal of Neuroscience
, vol.21
, Issue.23
, pp. 9246-9254
-
-
Nagai, M.1
Aoki, M.2
Miyoshi, I.3
Kato, M.4
Pasinelli, P.5
Kasai, N.6
Brown Jr., R.H.7
Itoyama, Y.8
-
6
-
-
35248844678
-
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis
-
Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, et al. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol. 2007;62:609-17.
-
(2007)
Ann Neurol
, vol.62
, pp. 609-17
-
-
Wu, D.1
Yu, W.2
Kishikawa, H.3
Folkerth, R.D.4
Iafrate, A.J.5
Shen, Y.6
-
7
-
-
38449102667
-
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
-
DOI 10.2741/2727
-
Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci. 2008;13:867-78. (Pubitemid 351594732)
-
(2008)
Frontiers in Bioscience
, vol.13
, Issue.3
, pp. 867-878
-
-
Buratti, E.1
Baralle, F.E.2
-
8
-
-
77955792022
-
ALS-associated fused-in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
-
Dormann D, Rodde R, Edbauer D, Bentmann E, Fischer I, Hruscha A, et al. ALS-associated fused-in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J. 2010;29:2841-57.
-
(2010)
EMBO J
, vol.29
, pp. 2841-57
-
-
Dormann, D.1
Rodde, R.2
Edbauer, D.3
Bentmann, E.4
Fischer, I.5
Hruscha, A.6
-
9
-
-
33745945163
-
TLS, EWS and TAF15: A model for transcriptional integration of gene expression
-
DOI 10.1093/bfgp/ell015, The Comparative and Functional Genomics (BITS) Workshop
-
Law WJ, Cann KL, Hicks GG. TLS, EWS and TAF15: a model for transcriptional integration of gene expression. Brief Funct Genomic Proteomic. 2006;5:8-14. (Pubitemid 46402988)
-
(2006)
Briefings in Functional Genomics and Proteomics
, vol.5
, Issue.1
, pp. 8-14
-
-
Law, W.J.1
Cann, K.L.2
Hicks, G.G.3
-
10
-
-
71049166754
-
The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)
-
Strong MJ. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci. 2010;288: 1-12.
-
(2010)
J Neurol Sci
, vol.288
, pp. 1-12
-
-
Strong, M.J.1
-
11
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, van der Burg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323:1205-8.
-
(2009)
Science
, vol.323
, pp. 1205-8
-
-
Kwiatkowski Jr., T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Van Der Burg, C.R.5
Russ, C.6
-
12
-
-
82755161970
-
Pathogenicity of exonic indels in fused-in sarcoma in amyotrophic lateral sclerosis
-
Published Online First: 11 November 2010 doi:10.1016/j.neurobiolaging. 2010.09.029
-
Rutherford NJ, Finch NA, Dejesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, et al. Pathogenicity of exonic indels in fused-in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging Published Online First: 11 November 2010. doi:10.1016/j.neurobiolaging.2010.09.029
-
Neurobiol Aging
-
-
Rutherford, N.J.1
Finch, N.A.2
Dejesus-Hernandez, M.3
Crook, R.J.4
Lomen-Hoerth, C.5
Wszolek, Z.K.6
-
13
-
-
79959763071
-
Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases
-
Lill CM, Abel O, Bertram L, Al-Chalabi A. "Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases" Amyotroph Lateral Scler. 2011;4:238-49.
-
(2011)
Amyotroph Lateral Scler
, vol.4
, pp. 238-49
-
-
Lill, C.M.1
Abel, O.2
Bertram, L.3
Al-Chalabi, A.4
-
14
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
DOI 10.1002/ana.410410212
-
Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210-21. (Pubitemid 27082102)
-
(1997)
Annals of Neurology
, vol.41
, Issue.2
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKenna-Yasek, D.2
Sapp, P.E.3
Chin, W.4
Geller, B.5
Hayden, D.L.6
Schoenfeld, D.A.7
Hosler, B.A.8
Horvitz, H.R.9
Brown, R.H.10
-
15
-
-
0038446777
-
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: A decade of discoveries, defects and disputes
-
DOI 10.1080/14660820301188
-
Andersen PM, Sims KB, Xin WW, Kiely R, ONeill G, Ravits J, et al. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4:62-73. (Pubitemid 36874774)
-
(2003)
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
, vol.4
, Issue.2
, pp. 62-73
-
-
Andersen, P.M.1
Sims, K.B.2
Xin, W.W.3
Kiely, R.4
O'Neill, G.5
Ravits, J.6
Pioro, E.7
Harati, Y.8
Brower, R.D.9
Levine, J.S.10
Heinicke, H.U.11
Seltzer, W.12
Boss, M.13
Brown Jr., R.H.14
-
16
-
-
77952570883
-
Four familial ALS pedigrees discordant for two SOD1 mutations: Are all SOD1 mutations pathogenic?
-
Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry. 2010;81:572-7.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 572-7
-
-
Felbecker, A.1
Camu, W.2
Valdmanis, P.N.3
Sperfeld, A.D.4
Waibel, S.5
Steinbach, P.6
-
17
-
-
67349155310
-
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
-
Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging. 2009;30:1272-5.
-
(2009)
Neurobiol Aging
, vol.30
, pp. 1272-5
-
-
Chio, A.1
Restagno, G.2
Brunetti, M.3
Ossola, I.4
Calvo, A.5
Mora, G.6
-
18
-
-
78449287318
-
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions
-
Huang EJ, Zhang J, Geser F, Trojanowski JQ, Strober JB, Dickson DW, et al. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol. 2010;20:1069-76.
-
(2010)
Brain Pathol
, vol.20
, pp. 1069-76
-
-
Huang, E.J.1
Zhang, J.2
Geser, F.3
Trojanowski, J.Q.4
Strober, J.B.5
Dickson, D.W.6
-
19
-
-
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, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208-11.
-
(2009)
Science
, vol.323
, pp. 1208-11
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
Sreedharan, J.6
-
20
-
-
77950902239
-
Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
-
Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, et al. Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2010;67:455-61.
-
(2010)
Arch Neurol
, vol.67
, pp. 455-61
-
-
Hewitt, C.1
Kirby, J.2
Highley, J.R.3
Hartley, J.A.4
Hibberd, R.5
Hollinger, H.C.6
-
21
-
-
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, Yang Y, et al. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010;75:807-14.
-
(2010)
Neurology
, vol.75
, pp. 807-14
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
Yang, Y.6
-
22
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
van Langenhove T, van der Zee J, Sleegers K, Engelborghs S, van den Berghe R, Gijselinck1 I, et al. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology. 2010;74:366-71.
-
(2010)
Neurology
, vol.74
, pp. 366-71
-
-
Van Langenhove, T.1
Van Der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Van Den Berghe, R.5
Gijselinck, I.6
-
23
-
-
77949760219
-
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
-
Corrado L, del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet. 2010;47:190-4.
-
(2010)
J Med Genet
, vol.47
, pp. 190-4
-
-
Corrado, L.1
Del Bo, R.2
Castellotti, B.3
Ratti, A.4
Cereda, C.5
Penco, S.6
-
24
-
-
77955093329
-
Fused-in sarcoma/ translocated in liposarcoma: A multifunctional DNA/ RNA binding protein
-
1408-11.1
-
Yang S, Warraich ST, Nicholson GA, Blair IP. Fused-in sarcoma/ translocated in liposarcoma: a multifunctional DNA/ RNA binding protein. Int J Biochem Cell Biol. 2010;42: 1408-11.1
-
(2010)
Int J Biochem Cell Biol
, vol.42
-
-
Yang, S.1
Warraich, S.T.2
Nicholson, G.A.3
Blair, I.P.4
|