-
1
-
-
0000280462
-
Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere
-
Charcot JM, Joffroy A. Deux cas d'atrophie musculaire progressive avec lesions de la substance grise et des faisceaux antero-lateraux de la moelle epiniere. Arch Physiol Neurol Pathol 1869; 2: 744.
-
(1869)
Arch Physiol Neurol Pathol
, vol.2
, pp. 744
-
-
Charcot, J.M.1
Joffroy, A.2
-
2
-
-
0033231494
-
From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS
-
Cleveland DW. From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron 1999; 24: 515-20.
-
(1999)
Neuron
, vol.24
, pp. 515-520
-
-
Cleveland, D.W.1
-
3
-
-
0001061176
-
Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. II
-
Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. II. Neurology 1955; 5: 249-68.
-
(1955)
Neurology
, vol.5
, pp. 249-268
-
-
Kurland, L.T.1
Mulder, D.W.2
-
4
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-62.
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
-
5
-
-
84859621752
-
The complex molecular biology of amyotrophic lateral sclerosis (ALS)
-
Redler RL, Dokholyan NV. The complex molecular biology of amyotrophic lateral sclerosis (ALS). Prog Mol Biol Transl Sci 2012; 107: 215-62.
-
(2012)
Prog Mol Biol Transl Sci
, vol.107
, pp. 215-262
-
-
Redler, R.L.1
Dokholyan, N.V.2
-
6
-
-
0031051485
-
ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions
-
Bruijn LI, Becher MW, Lee MK, et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 1997; 18: 327-38.
-
(1997)
Neuron
, vol.18
, pp. 327-338
-
-
Bruijn, L.I.1
Becher, M.W.2
Lee, M.K.3
-
7
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation
-
Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 1994; 264: 1772-5.
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
Pu, H.2
Chiu, A.Y.3
-
8
-
-
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, et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996; 13: 43-7.
-
(1996)
Nat Genet
, vol.13
, pp. 43-47
-
-
Reaume, A.G.1
Elliott, J.L.2
Hoffman, E.K.3
-
9
-
-
0032544674
-
Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1
-
Bruijn LI, Houseweart MK, Kato S, et al. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science 1998; 281: 1851-4.
-
(1998)
Science
, vol.281
, pp. 1851-1854
-
-
Bruijn, L.I.1
Houseweart, M.K.2
Kato, S.3
-
10
-
-
23644462197
-
Ultrastructural study of aggregates in the spinal cord of transgenic mice with a G93A mutant SOD1 gene
-
Sasaki S, Warita H, Murakami T, et al. Ultrastructural study of aggregates in the spinal cord of transgenic mice with a G93A mutant SOD1 gene. Acta Neuropathol 2005; 109: 247-55.
-
(2005)
Acta Neuropathol
, vol.109
, pp. 247-255
-
-
Sasaki, S.1
Warita, H.2
Murakami, T.3
-
11
-
-
0042827316
-
Neuromuscular accumulation of mutant superoxide dismutase 1 aggregates in a transgenic mouse model of familial amyotrophic lateral sclerosis
-
Turner BJ, Lopes EC, Cheema SS. Neuromuscular accumulation of mutant superoxide dismutase 1 aggregates in a transgenic mouse model of familial amyotrophic lateral sclerosis. Neurosci Lett 2003; 350: 132-6.
-
(2003)
Neurosci Lett
, vol.350
, pp. 132-136
-
-
Turner, B.J.1
Lopes, E.C.2
Cheema, S.S.3
-
12
-
-
34547640096
-
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis
-
Gruzman A, Wood WL, Alpert E, et al. Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2007; 104: 12524-9.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 12524-12529
-
-
Gruzman, A.1
Wood, W.L.2
Alpert, E.3
-
13
-
-
0346720569
-
-
[accessed August 20, 2013]
-
ALSoD database. Available at: http://alsod. iop. kcl. ac. uk/[accessed August 20, 2013].
-
ALSoD database
-
-
-
14
-
-
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; 12: 238-49.
-
(2011)
Amyotroph Lateral Scler
, vol.12
, pp. 238-249
-
-
Lill, C.M.1
Abel, O.2
Bertram, L.3
Al-Chalabi, A.4
-
15
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61-6.
-
(1995)
Nat Genet
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
-
16
-
-
22144446302
-
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
-
Battistini S, Giannini F, Greco G, et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol 2005; 252: 782-8.
-
(2005)
J Neurol
, vol.252
, pp. 782-788
-
-
Battistini, S.1
Giannini, F.2
Greco, G.3
-
17
-
-
77649331296
-
D90A-S0D1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings
-
Giannini F, Battistini S, Mancuso M, et al. D90A-S0D1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. Amyotroph Lateral Scler 2010; 11: 216-9.
-
(2010)
Amyotroph Lateral Scler
, vol.11
, pp. 216-219
-
-
Giannini, F.1
Battistini, S.2
Mancuso, M.3
-
18
-
-
84869102685
-
Genetic overlap between apparently sporadic motor neuron diseases
-
van Blitterswijk M, Vlam L, van Es MA, et al. Genetic overlap between apparently sporadic motor neuron diseases. PLoS One 2012; 7: e48983.
-
(2012)
PLoS One
, vol.7
-
-
van Blitterswijk, M.1
Vlam, L.2
van Es, M.A.3
-
19
-
-
77649292324
-
Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation
-
Lopate G, Baloh RH, Al-Lozi MT, et al. Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Scler 2010; 11: 232-6.
-
(2010)
Amyotroph Lateral Scler
, vol.11
, pp. 232-236
-
-
Lopate, G.1
Baloh, R.H.2
Al-Lozi, M.T.3
-
20
-
-
84864083825
-
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
-
Millecamps S, Boillée S, Le Ber I, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 2012; 49: 258-63.
-
(2012)
J Med Genet
, vol.49
, pp. 258-263
-
-
Millecamps, S.1
Boillée, S.2
Le Ber, I.3
-
21
-
-
0031057003
-
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
-
Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 210-21.
-
(1997)
Ann Neurol
, vol.41
, pp. 210-221
-
-
Cudkowicz, M.E.1
McKenna-Yasek, D.2
Sapp, P.E.3
-
22
-
-
79952840023
-
Genetics of familial Amyotrophic lateral sclerosis
-
Ticozzi N, Tiloca C, Morelli C, 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
-
23
-
-
0029815265
-
An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis
-
Cudkowicz ME, Brown RH Jr. An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis. J Neurol Sci 1996; 139 Suppl: 10-5.
-
(1996)
J Neurol Sci
, vol.139
, pp. 10-15
-
-
Cudkowicz, M.E.1
Brown, R.H.2
-
24
-
-
31544466502
-
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
-
Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep 2006; 6: 37-46.
-
(2006)
Curr Neurol Neurosci Rep
, vol.6
, pp. 37-46
-
-
Andersen, P.M.1
-
25
-
-
77649282136
-
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype
-
Battistini S, Ricci C, Giannini F, et al. G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype. Amyotroph Lateral Scler 2010; 11: 210-5.
-
(2010)
Amyotroph Lateral Scler
, vol.11
, pp. 210-215
-
-
Battistini, S.1
Ricci, C.2
Giannini, F.3
-
26
-
-
68949121232
-
Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis
-
Tovar-Y-Romo LB, Santa-Cruz LD, Tapia R. Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis. Mol Neurodegener 2009; 4: 31.
-
(2009)
Mol Neurodegener
, vol.4
, pp. 31
-
-
Tovar-Y.-Romo, L.B.1
Santa-Cruz, L.D.2
Tapia, R.3
-
27
-
-
33947323759
-
Lost in translation: Treatment trials in the SOD1 mouse and in human ALS
-
Benatar M. Lost in translation: treatment trials in the SOD1 mouse and in human ALS. Neurobiol Dis 2007; 26: 1-13.
-
(2007)
Neurobiol Dis
, vol.26
, pp. 1-13
-
-
Benatar, M.1
-
28
-
-
39349107014
-
Design, power, and interpretation of studies in the standard murine model of ALS
-
Scott S, Kranz JE, Cole J, et al. Design, power, and interpretation of studies in the standard murine model of ALS. Amyotroph Lateral Scler 2008; 9: 4-15.
-
(2008)
Amyotroph Lateral Scler
, vol.9
, pp. 4-15
-
-
Scott, S.1
Kranz, J.E.2
Cole, J.3
-
29
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166-73.
-
(2001)
Nat Genet
, vol.29
, pp. 166-173
-
-
Hadano, S.1
Hand, C.K.2
Osuga, H.3
-
30
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160-5.
-
(2001)
Nat Genet
, vol.29
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
-
31
-
-
0042914405
-
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
-
Devon RS, Helm JR, Rouleau GA, et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 2003; 64: 210-5.
-
(2003)
Clin Genet
, vol.64
, pp. 210-215
-
-
Devon, R.S.1
Helm, J.R.2
Rouleau, G.A.3
-
32
-
-
0037234133
-
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
-
Gros-Louis F, Meijer IA, Hand CK, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003; 53: 144-5.
-
(2003)
Ann Neurol
, vol.53
, pp. 144-145
-
-
Gros-Louis, F.1
Meijer, I.A.2
Hand, C.K.3
-
33
-
-
27644488582
-
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis
-
Kress JA, Kuhnlein P, Winter P, et al. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol 2005; 58: 800-3.
-
(2005)
Ann Neurol
, vol.58
, pp. 800-803
-
-
Kress, J.A.1
Kuhnlein, P.2
Winter, P.3
-
34
-
-
33744816471
-
Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis
-
Eymard-Pierre E, Yamanaka K, Haeussler M, et al. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol 2006; 59: 976-80.
-
(2006)
Ann Neurol
, vol.59
, pp. 976-980
-
-
Eymard-Pierre, E.1
Yamanaka, K.2
Haeussler, M.3
-
35
-
-
33745713871
-
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function
-
Panzeri C, De Palma C, Martinuzzi A, et al. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain 2006; 129: 1710-9.
-
(2006)
Brain
, vol.129
, pp. 1710-1719
-
-
Panzeri, C.1
De Palma, C.2
Martinuzzi, A.3
-
36
-
-
23444435692
-
Alsin is partially associated with centrosome in human cells
-
Millecamps S, Gentil BJ, Gros-Louis F, Rouleau G, Julien JP. Alsin is partially associated with centrosome in human cells. Biochim Biophys Acta 2005; 1745: 84-100.
-
(2005)
Biochim Biophys Acta
, vol.1745
, pp. 84-100
-
-
Millecamps, S.1
Gentil, B.J.2
Gros-Louis, F.3
Rouleau, G.4
Julien, J.P.5
-
37
-
-
0041308082
-
ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics
-
Otomo A, Hadano S, Okada T, et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 2003; 12: 1671-87.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1671-1687
-
-
Otomo, A.1
Hadano, S.2
Okada, T.3
-
38
-
-
0346734108
-
Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease
-
Yamanaka K, Vande Velde C, Eymard-Pierre E, Bertini E, Boespflug-Tanguy O, Cleveland DW. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A 2003; 100: 16041-6.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 16041-16046
-
-
Yamanaka, K.1
Vande Velde, C.2
Eymard-Pierre, E.3
Bertini, E.4
Boespflug-Tanguy, O.5
Cleveland, D.W.6
-
39
-
-
23844448652
-
Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress
-
Cai H, Lin X, Xie C, et al. Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress. J Neurosci 2005; 25: 7567-74.
-
(2005)
J Neurosci
, vol.25
, pp. 7567-7574
-
-
Cai, H.1
Lin, X.2
Xie, C.3
-
40
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74: 1128-35.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
-
41
-
-
62549146705
-
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
-
Zhao ZH, Chen WZ, Wu ZY, et al. A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009; 10: 118-22.
-
(2009)
Amyotroph Lateral Scler
, vol.10
, pp. 118-122
-
-
Zhao, Z.H.1
Chen, W.Z.2
Wu, Z.Y.3
-
42
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004; 36: 225-7.
-
(2004)
Nat Genet
, vol.36
, pp. 225-227
-
-
Moreira, M.C.1
Klur, S.2
Watanabe, M.3
-
43
-
-
34250775522
-
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage
-
Suraweera A, Becherel OJ, Chen P, et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. J Cell Biol 2007; 177: 969-79.
-
(2007)
J Cell Biol
, vol.177
, pp. 969-979
-
-
Suraweera, A.1
Becherel, O.J.2
Chen, P.3
-
44
-
-
69449101422
-
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
-
Suraweera A, Lim Y, Woods R, et al. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Hum Mol Genet 2009; 18: 3384-96.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3384-3396
-
-
Suraweera, A.1
Lim, Y.2
Woods, R.3
-
45
-
-
0043166959
-
A new familial amyotrophic lateral sclerosis locus on chromosome 16q12. 1-16q12. 2
-
Abalkhail H, Mitchell J, Habgood J, Orrell R, de Belleroche J. A new familial amyotrophic lateral sclerosis locus on chromosome 16q12. 1-16q12. 2. Am J Hum Genet 2003; 73: 383-9.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 383-389
-
-
Abalkhail, H.1
Mitchell, J.2
Habgood, J.3
Orrell, R.4
de Belleroche, J.5
-
46
-
-
0041664055
-
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q
-
Ruddy DM, Parton MJ, Al-Chalabi A, et al. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet 2003; 73: 390-6.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 390-396
-
-
Ruddy, D.M.1
Parton, M.J.2
Al-Chalabi, A.3
-
47
-
-
0041664059
-
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
-
Sapp PC, Hosler BA, McKenna-Yasek D, et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet 2003; 73: 397-403.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 397-403
-
-
Sapp, P.C.1
Hosler, B.A.2
McKenna-Yasek, D.3
-
48
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, 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. 1205-1208
-
-
Kwiatkowski, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
49
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C, Rogelj B, Hortobagyi T, 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. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, T.3
-
50
-
-
84862149644
-
FUS-related proteinopathies: Lessons from animal models
-
Lanson nA Jr, Pandey UB. FUS-related proteinopathies: lessons from animal models. Brain Res 2012; 1462: 3-15.
-
(2012)
Brain Res
, vol.1462
, pp. 3-15
-
-
Lansonn, A.1
Pandey, U.B.2
-
51
-
-
77955792022
-
ALS-associated fused in sarcoma (FUS) mutations disrupt transportin-mediated nuclear import
-
Dormann D, Rodde R, Edbauer D, 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. 2841-2857
-
-
Dormann, D.1
Rodde, R.2
Edbauer, D.3
-
52
-
-
62149141328
-
Rethinking ALS: The FUS about TDP-43
-
Lagier-Tourenne C, Cleveland DW. Rethinking ALS: the FUS about TDP-43. Cell 2009; 136: 1001-1004.
-
(2009)
Cell
, vol.136
, pp. 1001-1004
-
-
Lagier-Tourenne, C.1
Cleveland, D.W.2
-
53
-
-
77953890823
-
TDP-43 and FUS/TLS: Emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne C, Polymenidou M, Cleveland DW. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum Mol Genet 2010; 19: R46-64.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R46-R64
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
54
-
-
15744378126
-
The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology
-
Fujii R, Okabe S, Urushido T, et al. The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology. Curr Biol 2005; 15: 587-93.
-
(2005)
Curr Biol
, vol.15
, pp. 587-593
-
-
Fujii, R.1
Okabe, S.2
Urushido, T.3
-
55
-
-
48249083430
-
The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response
-
Andersson mK, Stahlberg A, Arvidsson Y, et al. The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response. BMC Cell Biol 2008; 9: 37.
-
(2008)
BMC Cell Biol
, vol.9
, pp. 37
-
-
Anderssonm, K.1
Stahlberg, A.2
Arvidsson, Y.3
-
56
-
-
67349155310
-
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
-
Chiò A, Restagno G, Brunetti M, 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. 1272-1275
-
-
Chiò, A.1
Restagno, G.2
Brunetti, M.3
-
57
-
-
77952107930
-
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation
-
Tateishi T, Hokonohara T, Yamasaki R, et al. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol 2009; 119: 355-64.
-
(2009)
Acta Neuropathol
, vol.119
, pp. 355-364
-
-
Tateishi, T.1
Hokonohara, T.2
Yamasaki, R.3
-
58
-
-
76149146012
-
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands
-
Groen EJ, van Es MA, van Vught PW, et al. FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol 2010; 67: 224-30.
-
(2010)
Arch Neurol
, vol.67
, pp. 224-230
-
-
Groen, E.J.1
van Es, M.A.2
van Vught, P.W.3
-
59
-
-
77949760219
-
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
-
Corrado L, Del Bo R, Castellotti B, 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. 190-194
-
-
Corrado, L.1
Del Bo, R.2
Castellotti, B.3
-
60
-
-
70350045802
-
Mutations in FUS cause FALS and SALS in French and French Canadian populations
-
Belzil VV, Valdmanis PN, Dion PA, et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 2009; 73: 1176-9.
-
(2009)
Neurology
, vol.73
, pp. 1176-1179
-
-
Belzil, V.V.1
Valdmanis, P.N.2
Dion, P.A.3
-
61
-
-
79952899796
-
C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany
-
Drepper C, Herrmann T, Wessig C, Beck M, Sendtner M. C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany. Neurobiol Aging 2009; 2011; 32: 548.
-
(2011)
Neurobiol Aging 2009
, vol.32
, pp. 548
-
-
Drepper, C.1
Herrmann, T.2
Wessig, C.3
Beck, M.4
Sendtner, M.5
-
62
-
-
79952900483
-
FUS mutations in sporadic amyotrophic lateral sclerosis
-
Lai SL, Abramzon Y, Schymick JC, et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011; 32: 550.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 550
-
-
Lai, S.L.1
Abramzon, Y.2
Schymick, J.C.3
-
63
-
-
79953743204
-
FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration
-
Huang C, Zhou H, Tong J, et al. FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. PLoS Genet 2011; 7: e1002011.
-
(2011)
PLoS Genet
, vol.7
-
-
Huang, C.1
Zhou, H.2
Tong, J.3
-
64
-
-
6344257200
-
A mutation in the vesicletrafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicletrafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004; 75: 822-31.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
-
66
-
-
41649090538
-
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
-
Landers JE, Leclerc AL, Shi L, et al. New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Neurology 2008; 70: 1179-85.
-
(2008)
Neurology
, vol.70
, pp. 1179-1185
-
-
Landers, J.E.1
Leclerc, A.L.2
Shi, L.3
-
67
-
-
77950170203
-
The p. P56S mutation in the VAPB gene is not due to a single founder: The first European case
-
Funke aD, Esser M, Kruttgen A, et al. The p. P56S mutation in the VAPB gene is not due to a single founder: the first European case. Clin Genet 2010; 77: 302-3.
-
(2010)
Clin Genet
, vol.77
, pp. 302-303
-
-
Funkea, D.1
Esser, M.2
Kruttgen, A.3
-
68
-
-
78650048929
-
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis
-
Chen HJ, Anagnostou G, Chai A, et al. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Biol Chem 2010; 285: 40266-81.
-
(2010)
J Biol Chem
, vol.285
, pp. 40266-40281
-
-
Chen, H.J.1
Anagnostou, G.2
Chai, A.3
-
69
-
-
33749554133
-
Characterization of amyotrophic lateral sclerosislinked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8)
-
Kanekura K, Nishimoto I, Aiso S, Matsuoka M. Characterization of amyotrophic lateral sclerosislinked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J Biol Chem 2006; 281: 30223-33.
-
(2006)
J Biol Chem
, vol.281
, pp. 30223-30233
-
-
Kanekura, K.1
Nishimoto, I.2
Aiso, S.3
Matsuoka, M.4
-
70
-
-
58549088349
-
ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB
-
Suzuki H, Kanekura K, Levine TP, et al. ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB. J Neurochem 2009; 108: 973-85.
-
(2009)
J Neurochem
, vol.108
, pp. 973-985
-
-
Suzuki, H.1
Kanekura, K.2
Levine, T.P.3
-
71
-
-
8844263662
-
A novel candidate region for ALS on chromosome 14q11. 2
-
Greenway MJ, Alexander MD, Ennis S, et al. A novel candidate region for ALS on chromosome 14q11. 2. Neurology 2004; 63: 1936-8.
-
(2004)
Neurology
, vol.63
, pp. 1936-1938
-
-
Greenway, M.J.1
Alexander, M.D.2
Ennis, S.3
-
72
-
-
33645422711
-
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
-
Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006; 38: 411-3.
-
(2006)
Nat Genet
, vol.38
, pp. 411-413
-
-
Greenway, M.J.1
Andersen, P.M.2
Russ, C.3
-
73
-
-
38649097173
-
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
-
Conforti FL, Sprovieri T, Mazzei R, et al. A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. Neuromuscul Disord 2008; 18: 68-70.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 68-70
-
-
Conforti, F.L.1
Sprovieri, T.2
Mazzei, R.3
-
74
-
-
38649105800
-
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
-
Gellera C, Colombrita C, Ticozzi N, et al. Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics 2008; 9: 33-40.
-
(2008)
Neurogenetics
, vol.9
, pp. 33-40
-
-
Gellera, C.1
Colombrita, C.2
Ticozzi, N.3
-
75
-
-
54049119245
-
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis
-
Paubel A, Violette J, Amy M, et al. Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. Arch Neurol 2008; 65: 1333-6.
-
(2008)
Arch Neurol
, vol.65
, pp. 1333-1336
-
-
Paubel, A.1
Violette, J.2
Amy, M.3
-
76
-
-
77955396350
-
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
-
Millecamps S, Salachas F, Cazeneuve C, 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. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
-
77
-
-
80955178345
-
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel aNg variant
-
Luigetti M, Lattante S, Zollino M, et al. SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel aNg variant. Neurobiol Aging 2011; 32: 1924.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 1924
-
-
Luigetti, M.1
Lattante, S.2
Zollino, M.3
-
78
-
-
0028262977
-
Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity
-
Moroianu J, Riordan JF. Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity. Proc Natl Acad Sci U S A 1994; 91: 1677-81.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 1677-1681
-
-
Moroianu, J.1
Riordan, J.F.2
-
79
-
-
33748108375
-
Genetic selection for critical residues in ribonucleases
-
Smith BD, Raines RT. Genetic selection for critical residues in ribonucleases. J Mol Biol 2006; 362: 459-478.
-
(2006)
J Mol Biol
, vol.362
, pp. 459-478
-
-
Smith, B.D.1
Raines, R.T.2
-
80
-
-
84857568783
-
Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis
-
Padhi AK, Kumar H, Vasaikar SV, Jayaram B, Gomes J. Mechanisms of loss of functions of human angiogenin variants implicated in amyotrophic lateral sclerosis. PLoS One 2012; 7: e32479.
-
(2012)
PLoS One
, vol.7
-
-
Padhi, A.K.1
Kumar, H.2
Vasaikar, S.V.3
Jayaram, B.4
Gomes, J.5
-
81
-
-
35248844678
-
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis
-
Wu D, Yu W, Kishikawa H, et al. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 2007; 62: 609-17.
-
(2007)
Ann Neurol
, vol.62
, pp. 609-617
-
-
Wu, D.1
Yu, W.2
Kishikawa, H.3
-
82
-
-
13244264730
-
Endogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesis
-
Kishimoto K, Liu S, Tsuji T, Olson KA, Hu GF. Endogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesis. Oncogene 2005; 24: 445-56.
-
(2005)
Oncogene
, vol.24
, pp. 445-456
-
-
Kishimoto, K.1
Liu, S.2
Tsuji, T.3
Olson, K.A.4
Hu, G.F.5
-
83
-
-
0041903805
-
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
-
Lambrechts D, Storkebaum E, Morimoto M, et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003; 34: 383-94.
-
(2003)
Nat Genet
, vol.34
, pp. 383-394
-
-
Lambrechts, D.1
Storkebaum, E.2
Morimoto, M.3
-
84
-
-
0034978562
-
Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration
-
Oosthuyse B, Moons L, Storkebaum E, et al. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat Genet 2001; 28: 131-8.
-
(2001)
Nat Genet
, vol.28
, pp. 131-138
-
-
Oosthuyse, B.1
Moons, L.2
Storkebaum, E.3
-
85
-
-
69049110867
-
Angiogenin protects motoneurons against hypoxic injury
-
Sebastia J, Kieran D, Breen B, et al. Angiogenin protects motoneurons against hypoxic injury. Cell Death Differ 2009; 16: 1238-47.
-
(2009)
Cell Death Differ
, vol.16
, pp. 1238-1247
-
-
Sebastia, J.1
Kieran, D.2
Breen, B.3
-
86
-
-
0035978743
-
Amyotrophic lateral sclerosis
-
Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 2001; 344: 1688-1700.
-
(2001)
N Engl J Med
, vol.344
, pp. 1688-1700
-
-
Rowland, L.P.1
Shneider, N.A.2
-
87
-
-
54049140363
-
The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis
-
Strong MJ. The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008; 9: 323-38.
-
(2008)
Amyotroph Lateral Scler
, vol.9
, pp. 323-338
-
-
Strong, M.J.1
-
88
-
-
84865839732
-
Frontotemporal lobar degeneration: Epidemiology, pathology, diagnosis and management
-
Seltman RE, Matthews BR. Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management. CNS Drugs 2012; 26: 841-70.
-
(2012)
CNS Drugs
, vol.26
, pp. 841-870
-
-
Seltman, R.E.1
Matthews, B.R.2
-
89
-
-
33750716074
-
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351: 602-11.
-
(2006)
Biochem Biophys Res Commun
, vol.351
, pp. 602-611
-
-
Arai, T.1
Hasegawa, M.2
Akiyama, H.3
-
90
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-3.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
-
91
-
-
41949100148
-
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis
-
Van Deerlin VM, Leverenz JB, Bekris LM, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008; 7: 409-16.
-
(2008)
Lancet Neurol
, vol.7
, pp. 409-416
-
-
Van Deerlin, V.M.1
Leverenz, J.B.2
Bekris, L.M.3
-
92
-
-
44749091997
-
Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation
-
Winton MJ, Igaz LM, Wong MM, Kwong LK, Trojanowski JQ, Lee VM. Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation. J Biol Chem 2008; 283: 13302-9.
-
(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
-
93
-
-
0344256486
-
Structural diversity and functional implications of the eukaryotic TDP gene family
-
Wang HY, Wang IF, Bose J, Shen CK. Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics 2004; 83: 130-9.
-
(2004)
Genomics
, vol.83
, pp. 130-139
-
-
Wang, H.Y.1
Wang, I.F.2
Bose, J.3
Shen, C.K.4
-
94
-
-
77957317483
-
The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation
-
Buratti E, Baralle FE. The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biol 2010; 7: 420-9.
-
(2010)
RNA Biol
, vol.7
, pp. 420-429
-
-
Buratti, E.1
Baralle, F.E.2
-
95
-
-
77954372835
-
Protein aggregation and defective RNA metabolism as mechanisms for motor neuron damage
-
Ticozzi N, Ratti A, Silani V. Protein aggregation and defective RNA metabolism as mechanisms for motor neuron damage. CNS Neurol Disord Drug Targets 2010; 9: 285-96.
-
(2010)
CNS Neurol Disord Drug Targets
, vol.9
, pp. 285-296
-
-
Ticozzi, N.1
Ratti, A.2
Silani, V.3
-
96
-
-
38449102667
-
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
-
Buratti E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci 2008; 13: 867-78.
-
(2008)
Front Biosci
, vol.13
, pp. 867-878
-
-
Buratti, E.1
Baralle, F.E.2
-
97
-
-
77951700391
-
Nuclear factor TDP-43 can aff ect selected microRNA levels
-
Buratti E, De Conti L, Stuani C, Romano M, Baralle M, Baralle F. Nuclear factor TDP-43 can aff ect selected microRNA levels. FEBS J 2010; 277: 2268-81.
-
(2010)
FEBS J
, vol.277
, pp. 2268-2281
-
-
Buratti, E.1
De Conti, L.2
Stuani, C.3
Romano, M.4
Baralle, M.5
Baralle, F.6
-
98
-
-
42449163952
-
TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor
-
Wang IF, Wu LS, Chang HY, Shen CK. TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J Neurochem 2008; 105: 797-806.
-
(2008)
J Neurochem
, vol.105
, pp. 797-806
-
-
Wang, I.F.1
Wu, L.S.2
Chang, H.Y.3
Shen, C.K.4
-
99
-
-
70350356317
-
Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching
-
Lu Y, Ferris J, Gao FB. Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching. Mol Brain 2009; 2: 30.
-
(2009)
Mol Brain
, vol.2
, pp. 30
-
-
Lu, Y.1
Ferris, J.2
Gao, F.B.3
-
100
-
-
67650113333
-
Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43
-
Nonaka T, Kametani F, Arai T, Akiyama H, Hasegawa M. Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43. Hum Mol Genet 2009; 18: 3353-64.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3353-3364
-
-
Nonaka, T.1
Kametani, F.2
Arai, T.3
Akiyama, H.4
Hasegawa, M.5
-
101
-
-
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, Finkbeiner S. Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci 2010; 30: 639-49.
-
(2010)
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
Finkbeiner, S.6
-
102
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319: 1668-72.
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
-
103
-
-
41949119043
-
TDP-43 A315T mutation in familial motor neuron disease
-
Gitcho MA, Baloh RH, Chakraverty S, et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008; 63: 535-8.
-
(2008)
Ann Neurol
, vol.63
, pp. 535-538
-
-
Gitcho, M.A.1
Baloh, R.H.2
Chakraverty, S.3
-
104
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008; 40: 572-4.
-
(2008)
Nat Genet
, vol.40
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
-
105
-
-
51649124062
-
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations
-
Kuhnlein P, Sperfeld AD, Vanmassenhove B, et al. Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol 2008; 65: 1185-9.
-
(2008)
Arch Neurol
, vol.65
, pp. 1185-1189
-
-
Kuhnlein, P.1
Sperfeld, A.D.2
Vanmassenhove, B.3
-
106
-
-
52949094629
-
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
-
Rutherford NJ, Zhang YJ, Baker M, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008; 4: e1000193.
-
(2008)
PLoS Genet
, vol.4
-
-
Rutherford, N.J.1
Zhang, Y.J.2
Baker, M.3
-
107
-
-
63749096466
-
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis
-
Corrado L, Ratti A, Gellera C, et al. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat 2009; 30: 688-94.
-
(2009)
Hum Mutat
, vol.30
, pp. 688-694
-
-
Corrado, L.1
Ratti, A.2
Gellera, C.3
-
108
-
-
65449130022
-
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: Identification of two novel mutations
-
Del Bo R, Ghezzi S, Corti S, et al. TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol 2009; 16: 727-32.
-
(2009)
Eur J Neurol
, vol.16
, pp. 727-732
-
-
Del Bo, R.1
Ghezzi, S.2
Corti, S.3
-
109
-
-
67849106393
-
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis
-
Kamada M, Maruyama H, Tanaka E, et al. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. J Neurol Sci 2009; 284: 69-71.
-
(2009)
J Neurol Sci
, vol.284
, pp. 69-71
-
-
Kamada, M.1
Maruyama, H.2
Tanaka, E.3
-
110
-
-
80052636880
-
Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol
-
Ticozzi N, Leclerc AL, van Blitterswijk M, et al. Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol. Aging 2011; 32: 2096-9.
-
(2011)
Aging
, vol.32
, pp. 2096-2099
-
-
Ticozzi, N.1
Leclerc, A.L.2
van Blitterswijk, M.3
-
111
-
-
79952900459
-
FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS
-
Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging 2011; 32: 553.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 553
-
-
Tsai, C.P.1
Soong, B.W.2
Lin, K.P.3
Tu, P.H.4
Lin, J.L.5
Lee, Y.C.6
-
112
-
-
80855138138
-
Rodent models of TDP-43 proteinopathy: Investigating the mechanisms of TDP-43-mediated neurodegeneration
-
Gendron TF, Petrucelli L. Rodent models of TDP-43 proteinopathy: investigating the mechanisms of TDP-43-mediated neurodegeneration. J Mol Neurosci 2011; 45: 486-99.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 486-499
-
-
Gendron, T.F.1
Petrucelli, L.2
-
113
-
-
84862118369
-
Rodent models of TDP-43: Recent advances
-
Tsao W, Jeong YH, Lin S, et al. Rodent models of TDP-43: recent advances. Brain Res 2012; 1462: 26-39.
-
(2012)
Brain Res
, vol.1462
, pp. 26-39
-
-
Tsao, W.1
Jeong, Y.H.2
Lin, S.3
-
114
-
-
84862210719
-
Does a loss of TDP-43 function cause neurodegeneration?
-
Xu ZS. Does a loss of TDP-43 function cause neurodegeneration? Mol Neurodegener 2012; 7: 27.
-
(2012)
Mol Neurodegener
, vol.7
, pp. 27
-
-
Xu, Z.S.1
-
115
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077-9.
-
(2002)
Science
, vol.295
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
-
116
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010; 465: 223-6.
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
-
117
-
-
84861915198
-
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese
-
Iida A, Hosono N, Sano M, et al. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiol Aging 2012; 33: 1843. e19-24.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1843.e19-1843.e24
-
-
Iida, A.1
Hosono, N.2
Sano, M.3
-
118
-
-
79952898709
-
Screening of OPTN in French familial amyotrophic lateral sclerosis
-
Millecamps S, Boillée S, Chabrol E, et al. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiol Aging 2011; 32: 557. e11-3.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 557.e11-557.e13
-
-
Millecamps, S.1
Boillée, S.2
Chabrol, E.3
-
119
-
-
81355127355
-
Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis
-
Solski JA, Williams KL, Yang S, Nicholson GA, Blair IP. Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 210. e9-10.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 210.e9-210.e10
-
-
Solski, J.A.1
Williams, K.L.2
Yang, S.3
Nicholson, G.A.4
Blair, I.P.5
-
120
-
-
80051570216
-
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
-
Sugihara K, Maruyama H, Kamada M, Morino H, Kawakami H. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population. Neurobiol Aging 2011; 32: 1923. e9-10.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 1923.e9-1923.e10
-
-
Sugihara, K.1
Maruyama, H.2
Kamada, M.3
Morino, H.4
Kawakami, H.5
-
121
-
-
79952900157
-
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis
-
Belzil VV, Daoud H, Desjarlais A, et al. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging 2011; 32: 555. e13-4.
-
(2011)
Neurobiol Aging
, vol.32
, pp. 555.e13-555.e14
-
-
Belzil, V.V.1
Daoud, H.2
Desjarlais, A.3
-
122
-
-
84866757247
-
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
-
Johnson L, Miller JW, Gkazi AS, et al. Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Neurobiol Aging 2012; 33: 2948. e15-7.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2948.e15-2948.e17
-
-
Johnson, L.1
Miller, J.W.2
Gkazi, A.S.3
-
123
-
-
81355147499
-
Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
-
Tümer Z, Bertelsen B, Gredal O, et al. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol Aging 2012; 33: 208. e1-5.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 208.e1-208.e5
-
-
Tümer, Z.1
Bertelsen, B.2
Gredal, O.3
-
124
-
-
84858335904
-
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
-
van Blitterswijk M, van Vught PW, van Es MA, et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2012; 33: 1016. e1-7.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1016.e1-1016.e7
-
-
van Blitterswijk, M.1
van Vught, P.W.2
van Es, M.A.3
-
125
-
-
80053629733
-
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
-
Del Bo R, Tiloca C, Pensato V, et al. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2011; 82: 1239-43.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 1239-1243
-
-
Del Bo, R.1
Tiloca, C.2
Pensato, V.3
-
126
-
-
78651343770
-
Optineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling
-
Swarup G, Nagabhushana A. Optineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling. J Biosci 2010; 35: 501-5.
-
(2010)
J Biosci
, vol.35
, pp. 501-505
-
-
Swarup, G.1
Nagabhushana, A.2
-
127
-
-
64549150163
-
NF-kappaB mediates tumor necrosis factor alpha-induced expression of optineurin, a negative regulator of NF-kappaB
-
Sudhakar C, Nagabhushana A, Jain N, Swarup G. NF-kappaB mediates tumor necrosis factor alpha-induced expression of optineurin, a negative regulator of NF-kappaB. PLoS One 2009; 4: e5114.
-
(2009)
PLoS One
, vol.4
-
-
Sudhakar, C.1
Nagabhushana, A.2
Jain, N.3
Swarup, G.4
-
128
-
-
79954594082
-
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
-
Hortobágyi T, Troakes C, Nishimura AL, et al. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol 2011; 121: 519-27.
-
(2011)
Acta Neuropathol
, vol.121
, pp. 519-527
-
-
Hortobágyi, T.1
Troakes, C.2
Nishimura, A.L.3
-
129
-
-
79954581188
-
Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease
-
Ito H, Fujita K, Nakamura M, et al. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease. Acta Neuropathol 2011; 121: 555-7.
-
(2011)
Acta Neuropathol
, vol.121
, pp. 555-557
-
-
Ito, H.1
Fujita, K.2
Nakamura, M.3
-
130
-
-
84892808067
-
Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation
-
Kamada M, Izumi Y, Ayaki T, et al. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation. Neuropathology 2014; 34: 64-70.
-
(2014)
Neuropathology
, vol.34
, pp. 64-70
-
-
Kamada, M.1
Izumi, Y.2
Ayaki, T.3
-
131
-
-
84911494370
-
-
Prof, Martin Maurer. Ed. InTech
-
Goodall EF, Bury JJ, Cooper-Knock J, Shaw PJ, Kirby J. Genetics of Familial Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Prof. Martin Maurer. Ed. InTech. 2012.
-
(2012)
Genetics of Familial Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis
-
-
Goodall, E.F.1
Bury, J.J.2
Cooper-Knock, J.3
Shaw, P.J.4
Kirby, J.5
-
132
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011; 477: 211-5.
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.X.1
Chen, W.2
Hong, S.T.3
-
133
-
-
84863480094
-
UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis
-
Daoud H, Suhail H, Szuto A, et al. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 2230. e1-2230. e5.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2230.e1-2230.e5
-
-
Daoud, H.1
Suhail, H.2
Szuto, A.3
-
134
-
-
84875279430
-
Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients
-
Dillen L, Van Langenhove T, Engelborghs S, et al. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients. Neurobiol Aging 2013; 34: 1711. e1-5.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1711.e1-1711.e5
-
-
Dillen, L.1
Van Langenhove, T.2
Engelborghs, S.3
-
135
-
-
84872676800
-
Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
-
Gellera C, Tiloca C, Del Bo R, et al. Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. J Neurol Neurosurg Psychiatry 2013; 84: 183-7.
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 183-187
-
-
Gellera, C.1
Tiloca, C.2
Del Bo, R.3
-
136
-
-
84856975767
-
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
-
Millecamps S, Corcia P, Cazeneuve C, et al. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 839. e1-3.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 839.e1-839.e3
-
-
Millecamps, S.1
Corcia, P.2
Cazeneuve, C.3
-
137
-
-
84866773422
-
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
-
Synofzik M, Maetzler W, Grehl T, et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 2012; 33: 2949. e13-7.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2949.e13-2949.e17
-
-
Synofzik, M.1
Maetzler, W.2
Grehl, T.3
-
138
-
-
84863451689
-
UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands
-
van Doormaal PT, van Rheenen W, van Blitterswijk M, et al. UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands. Neurobiol Aging 2012; 33: 2233. e7-2233. e8.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2233.e7-2233.e8
-
-
van Doormaal, P.T.1
van Rheenen, W.2
van Blitterswijk, M.3
-
139
-
-
84864380051
-
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
-
Williams KL, Warraich ST, Yang S, et al. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 2527. e3-10.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2527.e3-2527.e10
-
-
Williams, K.L.1
Warraich, S.T.2
Yang, S.3
-
140
-
-
84877611002
-
French Research Network on FTD and FTD-ALS. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients
-
Lattante S, Le Ber I, Camuzat A, Pariente J, Brice A, Kabashi E. French Research Network on FTD and FTD-ALS. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients. Neurobiol Aging 2013; 34: 2078. e5-6.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2078.e5-2078.e6
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
Pariente, J.4
Brice, A.5
Kabashi, E.6
-
141
-
-
84862756869
-
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
-
Brettschneider J, Van Deerlin VM, Robinson JL, et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 2012; 123: 825-39.
-
(2012)
Acta Neuropathol
, vol.123
, pp. 825-839
-
-
Brettschneider, J.1
Van Deerlin, V.M.2
Robinson, J.L.3
-
142
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68: 857-64.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
-
143
-
-
77953194507
-
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97
-
Ritson GP, Custer SK, Freibaum BD, et al. TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci 2010; 30: 7729-39.
-
(2010)
J Neurosci
, vol.30
, pp. 7729-7739
-
-
Ritson, G.P.1
Custer, S.K.2
Freibaum, B.D.3
-
144
-
-
33749236210
-
Diverse functions with a common regulator: Ubiquitin takes command of an AAA ATPase
-
Ye Y. Diverse functions with a common regulator: ubiquitin takes command of an AAA ATPase. J Struct Biol 2006; 156: 29-40.
-
(2006)
J Struct Biol
, vol.156
, pp. 29-40
-
-
Ye, Y.1
-
145
-
-
77952486387
-
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone
-
Custer SK, Neumann M, Lu H, Wright AC, Taylor JP. Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. Hum Mol Genet 2010; 19: 1741-55.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1741-1755
-
-
Custer, S.K.1
Neumann, M.2
Lu, H.3
Wright, A.C.4
Taylor, J.P.5
-
146
-
-
66449134941
-
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death
-
Gitcho MA, Strider J, Carter D, et al. VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. J Biol Chem 2009; 284: 12384-98.
-
(2009)
J Biol Chem
, vol.284
, pp. 12384-12398
-
-
Gitcho, M.A.1
Strider, J.2
Carter, D.3
-
147
-
-
84871331678
-
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
-
González-Pérez P, Cirulli ET, Drory VE, et al. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 2012; 79: 2201-8.
-
(2012)
Neurology
, vol.79
, pp. 2201-2208
-
-
González-Pérez, P.1
Cirulli, E.T.2
Drory, V.E.3
-
148
-
-
84863443830
-
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
-
Abramzon Y, Johnson JO, Scholz SW, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 2231. e1-2231. e6.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2231.e1-2231.e6
-
-
Abramzon, Y.1
Johnson, J.O.2
Scholz, S.W.3
-
149
-
-
84873473364
-
Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients
-
Zou ZY, Liu MS, Li XG, Cui LY. Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging 2013; 34: 1519. e3-4.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1519.e3-1519.e4
-
-
Zou, Z.Y.1
Liu, M.S.2
Li, X.G.3
Cui, L.Y.4
-
150
-
-
84865595326
-
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients
-
Miller JW, Smith BN, Topp SD, et al. Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2012; 33: 2721. e1-2.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2721.e1-2721.e2
-
-
Miller, J.W.1
Smith, B.N.2
Topp, S.D.3
-
151
-
-
84861191585
-
Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis
-
Williams KL, Solski JA, Nicholson GA, Blair IP. Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 1488. e15-6.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1488.e15-1488.e16
-
-
Williams, K.L.1
Solski, J.A.2
Nicholson, G.A.3
Blair, I.P.4
-
152
-
-
84856958110
-
VCP mutations in familial and sporadic amyotrophic lateral sclerosis
-
Koppers M, van Blitterswijk MM, Vlam L, et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 837. e7-13.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 837.e7-837.e13
-
-
Koppers, M.1
van Blitterswijk, M.M.2
Vlam, L.3
-
153
-
-
78049244477
-
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease
-
Badadani M, Nalbandian A, Watts GD, et al. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One 2010; 5. pii: e13183.
-
(2010)
PLoS One
, vol.5
-
-
Badadani, M.1
Nalbandian, A.2
Watts, G.D.3
-
155
-
-
0348011603
-
Functions of intermediate filaments in neuronal development and disease
-
Lariviere RC, Julien JP. Functions of intermediate filaments in neuronal development and disease. J Neurobiol 2004; 58: 131-48.
-
(2004)
J Neurobiol
, vol.58
, pp. 131-148
-
-
Lariviere, R.C.1
Julien, J.P.2
-
156
-
-
4143120075
-
The role of profilin complexes in cell motility and other cellular processes
-
Witke W. The role of profilin complexes in cell motility and other cellular processes. Trends Cell Biol 2004; 14: 461-9.
-
(2004)
Trends Cell Biol
, vol.14
, pp. 461-469
-
-
Witke, W.1
-
157
-
-
0033621413
-
A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems
-
Giesemann T, Rathke-Hartlieb S, Rothkegel M, et al. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems. J Biol Chem 1999; 274: 37908-14.
-
(1999)
J Biol Chem
, vol.274
, pp. 37908-37914
-
-
Giesemann, T.1
Rathke-Hartlieb, S.2
Rothkegel, M.3
-
158
-
-
50249147874
-
Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation
-
Shao J, Welch WJ, Diprospero NA, Diamond MI. Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. Mol Cell Biol 2008; 28: 5196-208.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 5196-5208
-
-
Shao, J.1
Welch, W.J.2
Diprospero, N.A.3
Diamond, M.I.4
-
159
-
-
84865235172
-
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
-
Wu CH, Fallini C, Ticozzi N, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012; 488: 499-503.
-
(2012)
Nature
, vol.488
, pp. 499-503
-
-
Wu, C.H.1
Fallini, C.2
Ticozzi, N.3
-
160
-
-
84875251623
-
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
-
Ingre C, Landers JE, Rizik N, et al. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiol Aging 2013; 34: 1708. e1-6.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1708.e1-1708.e6
-
-
Ingre, C.1
Landers, J.E.2
Rizik, N.3
-
161
-
-
84872346600
-
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
-
Daoud H, Dobrzeniecka S, Camu W, et al. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiol Aging 2013; 34: 1311 e1-2.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1311e1-1311e2
-
-
Daoud, H.1
Dobrzeniecka, S.2
Camu, W.3
-
162
-
-
84875272260
-
Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
-
Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiol Aging 2013; 34: 1709. e1-2.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1709.e1-1709.e2
-
-
Lattante, S.1
Le Ber, I.2
Camuzat, A.3
Brice, A.4
Kabashi, E.5
-
163
-
-
84873434999
-
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
-
Tiloca C, Ticozzi N, Pensato V, et al. Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. Neurobiol Aging 2013; 34: 1517. e9-10.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1517.e9-1517.e10
-
-
Tiloca, C.1
Ticozzi, N.2
Pensato, V.3
-
164
-
-
79958262155
-
MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1
-
Duan W, Guo Y, Jiang H, Yu X, Li C. MG132 enhances neurite outgrowth in neurons overexpressing mutant TAR DNA-binding protein-43 via increase of HO-1. Brain Res 2011; 1397: 1-9.
-
(2011)
Brain Res
, vol.1397
, pp. 1-9
-
-
Duan, W.1
Guo, Y.2
Jiang, H.3
Yu, X.4
Li, C.5
-
165
-
-
0037072549
-
Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1
-
Takeuchi H, Kobayashi Y, Yoshihara T, et al. Hsp70 and Hsp40 improve neurite outgrowth and suppress intracytoplasmic aggregate formation in cultured neuronal cells expressing mutant SOD1. Brain Res 2002; 949: 11-22.
-
(2002)
Brain Res
, vol.949
, pp. 11-22
-
-
Takeuchi, H.1
Kobayashi, Y.2
Yoshihara, T.3
-
166
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
Boxer AL, Mackenzie IR, Boeve BF, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011; 82: 196-203.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 196-203
-
-
Boxer, A.L.1
Mackenzie, I.R.2
Boeve, B.F.3
-
167
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66: 839-44.
-
(2006)
Neurology
, vol.66
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
-
168
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
Pearson JP, Williams NM, Majounie E, et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 2011; 258: 647-55.
-
(2011)
J Neurol
, vol.258
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
-
169
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21. 3
-
Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21. 3. Brain 2006; 129: 868-76.
-
(2006)
Brain
, vol.129
, pp. 868-876
-
-
Vance, C.1
Al-Chalabi, A.2
Ruddy, D.3
-
170
-
-
70349592269
-
Genome-wide association study identifies 19p13. 3 (UNC13A) and 9p21. 2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
Van Es MA, Veldink JH, Saris CG, et al. Genome-wide association study identifies 19p13. 3 (UNC13A) and 9p21. 2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-7.
-
(2009)
Nat Genet
, vol.41
, pp. 1083-1087
-
-
Van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
-
171
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
-
Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010; 9: 978-85.
-
(2010)
Lancet Neurol
, vol.9
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
-
172
-
-
77956877621
-
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
-
Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010; 9: 986-94.
-
(2010)
Lancet Neurol
, vol.9
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
-
173
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010; 42: 234-9.
-
(2010)
Nat Genet
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
-
174
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72: 245-56.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
-
175
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-68.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
-
176
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
-
Byrne S, Elamin M, Bede P, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 2012; 11: 232-40.
-
(2012)
Lancet Neurol
, vol.11
, pp. 232-240
-
-
Byrne, S.1
Elamin, M.2
Bede, P.3
-
177
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012; 11: 54-65.
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
van der Zee, J.3
-
178
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012; 11: 323-30.
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
-
179
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, et al. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012, 135: 723-35.
-
(2012)
Brain
, vol.135
, pp. 723-735
-
-
Simón-Sánchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
-
180
-
-
82355180849
-
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
-
Murray ME, DeJesus-Hernandez M, Rutherford NJ, et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011; 122: 673-90.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 673-690
-
-
Murray, M.E.1
DeJesus-Hernandez, M.2
Rutherford, N.J.3
-
181
-
-
84863393788
-
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
-
Boeve BF, Boylan KB, Graff-Radford NR, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012; 135: 765-83.
-
(2012)
Brain
, vol.135
, pp. 765-783
-
-
Boeve, B.F.1
Boylan, K.B.2
Graff-Radford, N.R.3
-
182
-
-
84866600630
-
An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
-
Troakes C, Maekawa S, Wijesekera L, et al. An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology 2011; 32: 505-14.
-
(2011)
Neuropathology
, vol.32
, pp. 505-514
-
-
Troakes, C.1
Maekawa, S.2
Wijesekera, L.3
-
183
-
-
82355180826
-
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
-
Al-Sarraj S, King A, Troakes C, et al. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 2011; 122: 691-702.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
-
184
-
-
79959599081
-
A harmonized classification system for FTLD-TDP pathology
-
Mackenzie IRA, Neumann M, Baborie A, et al. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 2011; 122: 111-3.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 111-113
-
-
Mackenzie, I.R.A.1
Neumann, M.2
Baborie, A.3
-
185
-
-
47949096734
-
Sporadic amyotrophic lateral sclerosis: Two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions
-
Nishihira Y, Tan CF, Onodera O, et al. Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol 2008; 116: 169-82.
-
(2008)
Acta Neuropathol
, vol.116
, pp. 169-182
-
-
Nishihira, Y.1
Tan, C.F.2
Onodera, O.3
-
186
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
Cooper-Knock J, Hewitt C, Highley JR, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012; 135: 751-64.
-
(2012)
Brain
, vol.135
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
-
187
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
Chiò A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012; 135: 784-93.
-
(2012)
Brain
, vol.135
, pp. 784-793
-
-
Chiò, A.1
Borghero, G.2
Restagno, G.3
-
188
-
-
84856132922
-
Repeat expansion in C9ORF72 in Alzheimer's disease
-
Majounie E, Abramzon Y, Renton AE, et al. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med 2012; 366: 283-4.
-
(2012)
N Engl J Med
, vol.366
, pp. 283-284
-
-
Majounie, E.1
Abramzon, Y.2
Renton, A.E.3
-
189
-
-
84873676245
-
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
-
Gómez-Tortosa E, Gallego J, Guerrero-López R, et al. C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology 2013; 80: 366-70.
-
(2013)
Neurology
, vol.80
, pp. 366-370
-
-
Gómez-Tortosa, E.1
Gallego, J.2
Guerrero-López, R.3
-
190
-
-
84899644069
-
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
-
Johnson JO, Pioro EP, Boehringer A, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 2014; 17: 664-6.
-
(2014)
Nat Neurosci
, vol.17
, pp. 664-666
-
-
Johnson, J.O.1
Pioro, E.P.2
Boehringer, A.3
-
191
-
-
0032471403
-
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: Clinical description and gene localization to 5q31
-
Feit H, Silbergleit A, Schneider LB, et al. Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am J Hum Genet 1998; 63: 1732-42.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1732-1742
-
-
Feit, H.1
Silbergleit, A.2
Schneider, L.B.3
-
192
-
-
33751120678
-
Amyotrophic lateral sclerosis as a complex genetic disease
-
Simpson CL, Al-Chalabi A. Amyotrophic lateral sclerosis as a complex genetic disease. Biochim Biophys Acta 2006; 1762: 973-85.
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 973-985
-
-
Simpson, C.L.1
Al-Chalabi, A.2
-
193
-
-
81555223367
-
The risk to relatives of patients with sporadic amyotrophic lateral sclerosis
-
Hanby MF, Scott KM, Scotton W, et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain 2011; 134: 3454-7.
-
(2011)
Brain
, vol.134
, pp. 3454-3457
-
-
Hanby, M.F.1
Scott, K.M.2
Scotton, W.3
-
194
-
-
4444319546
-
"You have shown me my end": Attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis
-
Fanos JH, Gelinas DF, Miller RG. "You have shown me my end": attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis. Am J Med Genet A 2004; 129A: 248-53.
-
(2004)
Am J Med Genet A
, vol.129 A
, pp. 248-253
-
-
Fanos, J.H.1
Gelinas, D.F.2
Miller, R.G.3
-
195
-
-
79954986867
-
Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis
-
Fanos JH, Gronka S, Wuu J, Stanislaw C, Andersen PM, Benatar M. Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. Genet Med 2011; 13: 342-8.
-
(2011)
Genet Med
, vol.13
, pp. 342-348
-
-
Fanos, J.H.1
Gronka, S.2
Wuu, J.3
Stanislaw, C.4
Andersen, P.M.5
Benatar, M.6
-
196
-
-
29244480266
-
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. EFNS task force on management of amyotrophic lateral sclerosis: Guidelines for diagnosing and clinical care of patients and relatives
-
Andersen PM, Borasio GD, Dengler R, et al. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. Eur J Neurol 2005; 12: 921-38.
-
(2005)
Eur J Neurol
, vol.12
, pp. 921-938
-
-
Andersen, P.M.1
Borasio, G.D.2
Dengler, R.3
-
197
-
-
66749103174
-
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: General issues, Huntington's disease, Parkinson's disease and dystonias
-
Harbo HF, Finsterer J, Baets J, et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol 2009; 16: 777-85.
-
(2009)
Eur J Neurol
, vol.16
, pp. 777-785
-
-
Harbo, H.F.1
Finsterer, J.2
Baets, J.3
-
198
-
-
84992417640
-
Amyotrophic Lateral Sclerosis Overview. 2001
-
Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors, Seattle (WA): University of Washington, Seattle; 1993-2013
-
Kinsley L, Siddique T. Amyotrophic Lateral Sclerosis Overview. 2001. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from http://www. ncbi. nlm. nih. gov/books/NBK1450/.
-
GeneReviews™
-
-
Kinsley, L.1
Siddique, T.2
-
199
-
-
84857044928
-
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force
-
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis
-
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis: Andersen PM, Abrahams S, Borasio GD, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol 2012; 19: 360-75.
-
(2012)
Eur J Neurol
, vol.19
, pp. 360-375
-
-
Andersen, P.M.1
Abrahams, S.2
Borasio, G.D.3
|