-
1
-
-
77950612903
-
Incidence of amyotrophic lateral sclerosis in Europe
-
Logroscino G, Traynor BJ, Hardiman O, Chio A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81:385-90.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 385-390
-
-
Logroscino, G.1
Traynor, B.J.2
Hardiman, O.3
Chio, A.4
Mitchell, D.5
Swingler, R.J.6
-
2
-
-
79951483000
-
Motor neurone disease: clinical features, diagnosis, diagnostic pitfalls and prognostic markers
-
Sathasivam S. Motor neurone disease: clinical features, diagnosis, diagnostic pitfalls and prognostic markers. Singapore Med J. 2010;51:367-72. quiz 73.
-
(2010)
Singapore Med J
, vol.51
, pp. 367-372
-
-
Sathasivam, S.1
-
3
-
-
84897108010
-
Recent progress in the genetics of motor neuron disease
-
Finsterer J, Burgunder JM. Recent progress in the genetics of motor neuron disease. Eur J Med Genet. 2014;57:103-12.
-
(2014)
Eur J Med Genet
, vol.57
, pp. 103-112
-
-
Finsterer, J.1
Burgunder, J.M.2
-
4
-
-
1542329664
-
The epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or over
-
Forbes RB, Colville S, Swingler RJ. The epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or over. Age Ageing. 2004;33:131-4.
-
(2004)
Age Ageing
, vol.33
, pp. 131-134
-
-
Forbes, R.B.1
Colville, S.2
Swingler, R.J.3
-
5
-
-
36549065720
-
Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity?
-
Gouveia LO, de Carvalho M. Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity? Amyotroph Lateral Scler. 2007;8:323-7.
-
(2007)
Amyotroph Lateral Scler
, vol.8
, pp. 323-327
-
-
Gouveia, L.O.1
Carvalho, M.2
-
6
-
-
78650868456
-
Effects of gender in amyotrophic lateral sclerosis
-
McCombe PA, Henderson RD. Effects of gender in amyotrophic lateral sclerosis. Gend Med. 2010;7:557-70.
-
(2010)
Gend Med
, vol.7
, pp. 557-570
-
-
McCombe, P.A.1
Henderson, R.D.2
-
7
-
-
79952486262
-
Amyotrophic lateral sclerosis
-
Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942-55.
-
(2011)
Lancet
, vol.377
, pp. 942-955
-
-
Kiernan, M.C.1
Vucic, S.2
Cheah, B.C.3
Turner, M.R.4
Eisen, A.5
Hardiman, O.6
-
8
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology. 2005;65:586-90.
-
(2005)
Neurology
, vol.65
, pp. 586-590
-
-
Ringholz, G.M.1
Appel, S.H.2
Bradshaw, M.3
Cooke, N.A.4
Mosnik, D.M.5
Schulz, P.E.6
-
10
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014;17:17-23.
-
(2014)
Nat Neurosci
, vol.17
, pp. 17-23
-
-
Renton, A.E.1
Chio, A.2
Traynor, B.J.3
-
11
-
-
84887233527
-
The epidemiology of ALS: a conspiracy of genes, environment and time
-
Al-Chalabi A, Hardiman O. The epidemiology of ALS: a conspiracy of genes, environment and time. Nat Rev Neurol. 2013;9:617-28.
-
(2013)
Nat Rev Neurol
, vol.9
, pp. 617-628
-
-
Al-Chalabi, A.1
Hardiman, O.2
-
12
-
-
0027426169
-
Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase
-
Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, et al. Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science. 1993;261:1047-51.
-
(1993)
Science
, vol.261
, pp. 1047-1051
-
-
Deng, H.X.1
Hentati, A.2
Tainer, J.A.3
Iqbal, Z.4
Cayabyab, A.5
Hung, W.Y.6
-
14
-
-
84875275736
-
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene
-
Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, et al. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene. Neurobiol Aging. 2013;1709(34):e3-5.
-
(2013)
Neurobiol Aging
, vol.1709
, Issue.34
, pp. e3-e5
-
-
Tortelli, R.1
Conforti, F.L.2
Cortese, R.3
D'Errico, E.4
Distaso, E.5
Mazzei, R.6
-
15
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nature reviews
-
Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nature reviews. Neurology. 2011;7:603-15.
-
(2011)
Neurology
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
16
-
-
0036403766
-
CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees
-
Jonsson PA, Backstrand A, Andersen PM, Jacobsson J, Parton M, Shaw C, et al. CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees. Neurobiol Dis. 2002;10:327-33.
-
(2002)
Neurobiol Dis
, vol.10
, pp. 327-333
-
-
Jonsson, P.A.1
Backstrand, A.2
Andersen, P.M.3
Jacobsson, J.4
Parton, M.5
Shaw, C.6
-
17
-
-
67049108824
-
Age and founder effect of SOD1 A4V mutation causing ALS
-
Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology. 2009;72:1634-9.
-
(2009)
Neurology
, vol.72
, pp. 1634-1639
-
-
Saeed, M.1
Yang, Y.2
Deng, H.X.3
Hung, W.Y.4
Siddique, N.5
Dellefave, L.6
-
18
-
-
84937810438
-
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis
-
Yamashita S, Ando Y. Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis. Transl Neurodegener. 2015;4:13.
-
(2015)
Transl Neurodegener
, vol.4
, pp. 13
-
-
Yamashita, S.1
Ando, Y.2
-
19
-
-
84875896727
-
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
-
Sabatelli M, Conte A, Zollino M. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis. Clin Genet. 2013;83:408-16.
-
(2013)
Clin Genet
, vol.83
, pp. 408-416
-
-
Sabatelli, M.1
Conte, A.2
Zollino, M.3
-
20
-
-
9544236295
-
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
-
Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keranen ML, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain. 1996;119(Pt 4):1153-72.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
Nilsson, P.4
Ala-Hurula, V.5
Keranen, M.L.6
-
21
-
-
0036885011
-
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype
-
Parton MJ, Broom W, Andersen PM, Al-Chalabi A, Nigel Leigh P, Powell JF, et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. Hum Mutat. 2002;20:473.
-
(2002)
Hum Mutat
, vol.20
, pp. 473
-
-
Parton, M.J.1
Broom, W.2
Andersen, P.M.3
Al-Chalabi, A.4
Nigel Leigh, P.5
Powell, J.F.6
-
22
-
-
0029854883
-
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Robberecht W, Aguirre T, Van den Bosch L, Tilkin P, Cassiman JJ, Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 1996;47:1336-9.
-
(1996)
Neurology
, vol.47
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Bosch, L.3
Tilkin, P.4
Cassiman, J.J.5
Matthijs, G.6
-
23
-
-
0031015422
-
Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase
-
Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology. 1997;48:55-7.
-
(1997)
Neurology
, vol.48
, pp. 55-57
-
-
Juneja, T.1
Pericak-Vance, M.A.2
Laing, N.G.3
Dave, S.4
Siddique, T.5
-
24
-
-
0037942533
-
A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis
-
Aksoy H, Dean G, Elian M, Deng HX, Deng G, Juneja T, et al. A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis. Neuroepidemiology. 2003;22:235-8.
-
(2003)
Neuroepidemiology
, vol.22
, pp. 235-238
-
-
Aksoy, H.1
Dean, G.2
Elian, M.3
Deng, H.X.4
Deng, G.5
Juneja, T.6
-
25
-
-
84855169332
-
[Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis]
-
Niu YF, Xiong HL, Wu JJ, Chen Y, Qiao K, Wu ZY. [Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis]. Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji. 2011;33:720-4.
-
(2011)
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji
, vol.33
, pp. 720-724
-
-
Niu, Y.F.1
Xiong, H.L.2
Wu, J.J.3
Chen, Y.4
Qiao, K.5
Wu, Z.Y.6
-
26
-
-
84861602585
-
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype
-
Origone P, Caponnetto C, Verdiani S, Mantero V, Cichero E, Fossa P, et al. T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. Amyotroph Lateral Scler. 2012;13:398-9.
-
(2012)
Amyotroph Lateral Scler
, vol.13
, pp. 398-399
-
-
Origone, P.1
Caponnetto, C.2
Verdiani, S.3
Mantero, V.4
Cichero, E.5
Fossa, P.6
-
27
-
-
80053943188
-
A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis
-
Visani M, de Biase D, Bartolomei I, Plasmati R, Morandi L, Cenacchi G, et al. A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:385-8.
-
(2011)
Amyotroph Lateral Scler
, vol.12
, pp. 385-388
-
-
Visani, M.1
Biase, D.2
Bartolomei, I.3
Plasmati, R.4
Morandi, L.5
Cenacchi, G.6
-
28
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, 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
Yanagisawa, Y.4
Otomo, A.5
Devon, R.S.6
-
29
-
-
0036724052
-
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene
-
Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002;71:518-27.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 518-527
-
-
Eymard-Pierre, E.1
Lesca, G.2
Dollet, S.3
Santorelli, F.M.4
Capua, M.5
Bertini, E.6
-
30
-
-
0347385145
-
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
-
Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, et al. Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. Arch Neurol. 2003;60:1768-71.
-
(2003)
Arch Neurol
, vol.60
, pp. 1768-1771
-
-
Hand, C.K.1
Devon, R.S.2
Gros-Louis, F.3
Rochefort, D.4
Khoris, J.5
Meininger, V.6
-
31
-
-
84956609887
-
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias
-
Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, et al. A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. PLoS One. 2014;9:e113258.
-
(2014)
PLoS One
, vol.9
, pp. e113258
-
-
Siddiqi, S.1
Foo, J.N.2
Vu, A.3
Azim, S.4
Silver, D.L.5
Mansoor, A.6
-
32
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, 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
Blair, I.P.4
Puls, I.5
Irobi, J.6
-
33
-
-
79955762130
-
Senataxin mutations and amyotrophic lateral sclerosis
-
Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:223-7.
-
(2011)
Amyotroph Lateral Scler
, vol.12
, pp. 223-227
-
-
Hirano, M.1
Quinzii, C.M.2
Mitsumoto, H.3
Hays, A.P.4
Roberts, J.K.5
Richard, P.6
-
34
-
-
33747605320
-
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
-
Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci. 2006;7:710-23.
-
(2006)
Nat Rev Neurosci
, vol.7
, pp. 710-723
-
-
Pasinelli, P.1
Brown, R.H.2
-
35
-
-
0032816137
-
Autosomal dominant juvenile amyotrophic lateral sclerosis
-
Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain. 1999;122(Pt 8):1539-50.
-
(1999)
Brain
, vol.122
, pp. 1539-1550
-
-
Rabin, B.A.1
Griffin, J.W.2
Crain, B.J.3
Scavina, M.4
Chance, P.F.5
Cornblath, D.R.6
-
36
-
-
84861861627
-
Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation
-
Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, et al. Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation. J Neurol Neurosurg Psychiatry. 2012;83:763-4.
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 763-764
-
-
Saiga, T.1
Tateishi, T.2
Torii, T.3
Kawamura, N.4
Nagara, Y.5
Shigeto, H.6
-
37
-
-
62549146705
-
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
-
Zhao ZH, Chen WZ, Wu ZY, Wang N, Zhao GX, Chen WJ, 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
Wang, N.4
Zhao, G.X.5
Chen, W.J.6
-
38
-
-
33745131439
-
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
-
Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, et al. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Neurobiol Dis. 2006;23:97-108.
-
(2006)
Neurobiol Dis
, vol.23
, pp. 97-108
-
-
Chen, Y.Z.1
Hashemi, S.H.2
Anderson, S.K.3
Huang, Y.4
Moreira, M.C.5
Lynch, D.R.6
-
39
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, 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
Nemeth, A.H.4
Ber, I.5
Moniz, J.C.6
-
40
-
-
77249126425
-
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
-
Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain. 2010;133:591-8.
-
(2010)
Brain
, vol.133
, pp. 591-598
-
-
Orlacchio, A.1
Babalini, C.2
Borreca, A.3
Patrono, C.4
Massa, R.5
Basaran, S.6
-
41
-
-
84889595981
-
Amyotrophic lateral sclerosis: an update on recent genetic insights
-
Iguchi Y, Katsuno M, Ikenaka K, Ishigaki S, Sobue G. Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol. 2013;260:2917-27.
-
(2013)
J Neurol
, vol.260
, pp. 2917-2927
-
-
Iguchi, Y.1
Katsuno, M.2
Ikenaka, K.3
Ishigaki, S.4
Sobue, G.5
-
42
-
-
42049108597
-
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
-
Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008;70:1384-9.
-
(2008)
Neurology
, vol.70
, pp. 1384-1389
-
-
Paisan-Ruiz, C.1
Dogu, O.2
Yilmaz, A.3
Houlden, H.4
Singleton, A.5
-
43
-
-
84862115153
-
Misregulated RNA processing in amyotrophic lateral sclerosis
-
Polymenidou M, Lagier-Tourenne C, Hutt KR, Bennett CF, Cleveland DW, Yeo GW. Misregulated RNA processing in amyotrophic lateral sclerosis. Brain Res. 2012;1462:3-15.
-
(2012)
Brain Res
, vol.1462
, pp. 3-15
-
-
Polymenidou, M.1
Lagier-Tourenne, C.2
Hutt, K.R.3
Bennett, C.F.4
Cleveland, D.W.5
Yeo, G.W.6
-
44
-
-
84946483602
-
Familial Amyotrophic Lateral Sclerosis
-
Boylan K. Familial Amyotrophic Lateral Sclerosis. Neurol Clin. 2015;33:807-30.
-
(2015)
Neurol Clin
, vol.33
, pp. 807-830
-
-
Boylan, K.1
-
45
-
-
84902291718
-
The role of FUS gene variants in neurodegenerative diseases
-
Deng H, Gao K, Jankovic J. The role of FUS gene variants in neurodegenerative diseases. Nat Rev Neurol. 2014;10:337-48.
-
(2014)
Nat Rev Neurol
, vol.10
, pp. 337-348
-
-
Deng, H.1
Gao, K.2
Jankovic, J.3
-
46
-
-
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. 807-814
-
-
Yan, J.1
Deng, H.X.2
Siddique, N.3
Fecto, F.4
Chen, W.5
Yang, Y.6
-
47
-
-
77955897545
-
Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
-
Baumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K, et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology. 2010;75:611-8.
-
(2010)
Neurology
, vol.75
, pp. 611-618
-
-
Baumer, D.1
Hilton, D.2
Paine, S.M.3
Turner, M.R.4
Lowe, J.5
Talbot, K.6
-
48
-
-
77955922327
-
FUS mutations in sporadic juvenile ALS: another step toward understanding ALS pathogenesis
-
Munoz DG. FUS mutations in sporadic juvenile ALS: another step toward understanding ALS pathogenesis. Neurology. 2010;75:584-5.
-
(2010)
Neurology
, vol.75
, pp. 584-585
-
-
Munoz, D.G.1
-
49
-
-
84864931903
-
Exome sequencing identifies FUS mutations as a cause of essential tremor
-
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet. 2012;91:313-9.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 313-319
-
-
Merner, N.D.1
Girard, S.L.2
Catoire, H.3
Bourassa, C.V.4
Belzil, V.V.5
Riviere, J.B.6
-
50
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, et al. A mutation in the vesicle-trafficking 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
Richieri-Costa, A.4
Middleton, S.5
Cascio, D.6
-
51
-
-
59649128986
-
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation
-
van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, et al. A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology. 2009;72:287-8.
-
(2009)
Neurology
, vol.72
, pp. 287-288
-
-
Es, M.A.1
Diekstra, F.P.2
Veldink, J.H.3
Baas, F.4
Bourque, P.R.5
Schelhaas, H.J.6
-
52
-
-
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. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
Gordon, P.4
Bricka, B.5
Camuzat, A.6
-
53
-
-
80955178345
-
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant
-
Luigetti M, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, et al. SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. Neurobiol Aging. 2011;1924(32):e15-8.
-
(2011)
Neurobiol Aging
, vol.1924
, Issue.32
, pp. e15-e18
-
-
Luigetti, M.1
Lattante, S.2
Zollino, M.3
Conte, A.4
Marangi, G.5
Grande, A.6
-
54
-
-
38649105800
-
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
-
Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, 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
Castellotti, B.4
Bragato, C.5
Ratti, A.6
-
55
-
-
69949186725
-
Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
-
Seilhean D, Cazeneuve C, Thuries V, Russaouen O, Millecamps S, Salachas F, et al. Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation. Acta Neuropathol. 2009;118:561-73.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 561-573
-
-
Seilhean, D.1
Cazeneuve, C.2
Thuries, V.3
Russaouen, O.4
Millecamps, S.5
Salachas, F.6
-
56
-
-
84255163614
-
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
-
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, et al. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol. 2011;70:964-73.
-
(2011)
Ann Neurol
, vol.70
, pp. 964-973
-
-
Es, M.A.1
Schelhaas, H.J.2
Vught, P.W.3
Ticozzi, N.4
Andersen, P.M.5
Groen, E.J.6
-
57
-
-
84864083825
-
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
-
Millecamps S, Boillee S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, 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
Boillee, S.2
Ber, I.3
Seilhean, D.4
Teyssou, E.5
Giraudeau, M.6
-
58
-
-
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. 2010;9:995-1007.
-
(2010)
Lancet Neurol
, vol.9
, pp. 995-1007
-
-
Mackenzie, I.R.1
Rademakers, R.2
Neumann, M.3
-
59
-
-
79955767066
-
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
-
Chio A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol. 2011;68:594-8.
-
(2011)
Arch Neurol
, vol.68
, pp. 594-598
-
-
Chio, A.1
Borghero, G.2
Pugliatti, M.3
Ticca, A.4
Calvo, A.5
Moglia, C.6
-
60
-
-
77954658796
-
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
-
Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, et al. Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics. 2010;11:217-25.
-
(2010)
Neurogenetics
, vol.11
, pp. 217-225
-
-
Kirby, J.1
Goodall, E.F.2
Smith, W.3
Highley, J.R.4
Masanzu, R.5
Hartley, J.A.6
-
61
-
-
84863609164
-
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
-
Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, et al. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology. 2012;78:1519-26.
-
(2012)
Neurology
, vol.78
, pp. 1519-1526
-
-
Corcia, P.1
Valdmanis, P.2
Millecamps, S.3
Lionnet, C.4
Blasco, H.5
Mouzat, K.6
-
62
-
-
76949089455
-
Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
-
Xiong HL, Wang JY, Sun YM, Wu JJ, Chen Y, Qiao K, et al. Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. BMC Med Genet. 2010;11:8.
-
(2010)
BMC Med Genet
, vol.11
, pp. 8
-
-
Xiong, H.L.1
Wang, J.Y.2
Sun, Y.M.3
Wu, J.J.4
Chen, Y.5
Qiao, K.6
-
63
-
-
70449528427
-
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy
-
Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, et al. TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol. 2009;118:633-45.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 633-645
-
-
Gitcho, M.A.1
Bigio, E.H.2
Mishra, M.3
Johnson, N.4
Weintraub, S.5
Mesulam, M.6
-
64
-
-
65649112431
-
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
-
Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol. 2009;65:470-3.
-
(2009)
Ann Neurol
, vol.65
, pp. 470-473
-
-
Benajiba, L.1
Ber, I.2
Camuzat, A.3
Lacoste, M.4
Thomas-Anterion, C.5
Couratier, P.6
-
65
-
-
77649302652
-
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling
-
Origone P, Caponnetto C, Bandettini Di Poggio M, Ghiglione E, Bellone E, Ferrandes G, et al. Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. Amyotroph Lateral Scler. 2010;11:223-7.
-
(2010)
Amyotroph Lateral Scler
, vol.11
, pp. 223-227
-
-
Origone, P.1
Caponnetto, C.2
Bandettini Di Poggio, M.3
Ghiglione, E.4
Bellone, E.5
Ferrandes, G.6
-
66
-
-
80052726999
-
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
-
Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, et al. Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics. 2011;12:203-9.
-
(2011)
Neurogenetics
, vol.12
, pp. 203-209
-
-
Quadri, M.1
Cossu, G.2
Saddi, V.3
Simons, E.J.4
Murgia, D.5
Melis, M.6
-
67
-
-
84874279387
-
TARDBP mutations in Parkinson's disease
-
Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, et al. TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord. 2013;19:312-5.
-
(2013)
Parkinsonism Relat Disord
, vol.19
, pp. 312-315
-
-
Rayaprolu, S.1
Fujioka, S.2
Traynor, S.3
Soto-Ortolaza, A.I.4
Petrucelli, L.5
Dickson, D.W.6
-
68
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007;448:68-72.
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
Shiga, K.6
-
69
-
-
58049192812
-
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
-
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet. 2009;84:85-8.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 85-88
-
-
Chow, C.Y.1
Landers, J.E.2
Bergren, S.K.3
Sapp, P.C.4
Grant, A.E.5
Jones, J.M.6
-
70
-
-
84877577668
-
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
-
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013;92:781-91.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 781-791
-
-
Campeau, P.M.1
Lenk, G.M.2
Lu, J.T.3
Bae, Y.4
Burrage, L.5
Turnpenny, P.6
-
71
-
-
84898722702
-
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
-
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 2014;82:1068-75.
-
(2014)
Neurology
, vol.82
, pp. 1068-1075
-
-
Baulac, S.1
Lenk, G.M.2
Dufresnois, B.3
Ouled Amar Bencheikh, B.4
Couarch, P.5
Renard, J.6
-
72
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, 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
Brice, G.4
Miller, L.5
Coca-Prados, M.6
-
73
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, 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
Izumi, Y.4
Kato, H.5
Watanabe, Y.6
-
74
-
-
84861915198
-
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese
-
Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, et al. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiol Aging. 2012;1843(33):e19-24.
-
(2012)
Neurobiol Aging
, vol.1843
, Issue.33
, pp. e19-e24
-
-
Iida, A.1
Hosono, N.2
Sano, M.3
Kamei, T.4
Oshima, S.5
Tokuda, T.6
-
75
-
-
84866757247
-
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
-
Johnson L, Miller JW, Gkazi AS, Vance C, Topp SD, Newhouse SJ, 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
-
-
Johnson, L.1
Miller, J.W.2
Gkazi, A.S.3
Vance, C.4
Topp, S.D.5
Newhouse, S.J.6
-
76
-
-
79952898709
-
Screening of OPTN in French familial amyotrophic lateral sclerosis
-
Millecamps S, Boillee S, Chabrol E, Camu W, Cazeneuve C, Salachas F, 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
-
-
Millecamps, S.1
Boillee, S.2
Chabrol, E.3
Camu, W.4
Cazeneuve, C.5
Salachas, F.6
-
77
-
-
84892808067
-
Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation
-
Kamada M, Izumi Y, Ayaki T, Nakamura M, Kagawa S, Kudo E, 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
Nakamura, M.4
Kagawa, S.5
Kudo, E.6
-
78
-
-
84873426054
-
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
-
Weishaupt JH, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, et al. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany. Neurobiol Aging. 2013;34:1516. e9-15.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 1516
-
-
Weishaupt, J.H.1
Waibel, S.2
Birve, A.3
Volk, A.E.4
Mayer, B.5
Meyer, T.6
-
79
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14:285-91.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
-
80
-
-
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, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466:1069-75.
-
(2010)
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
Fang, X.6
-
81
-
-
84878930835
-
ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis
-
Liu X, Lu M, Tang L, Zhang N, Chui D, Fan D. ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2013;34:2236. e5-8.
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2236
-
-
Liu, X.1
Lu, M.2
Tang, L.3
Zhang, N.4
Chui, D.5
Fan, D.6
-
82
-
-
84923528329
-
Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis
-
Lu HP, Gan SR, Chen S, Li HF, Liu ZJ, Ni W, et al. Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2014;36:1603.
-
(2014)
Neurobiol Aging
, vol.36
, pp. 1603
-
-
Lu, H.P.1
Gan, S.R.2
Chen, S.3
Li, H.F.4
Liu, Z.J.5
Ni, W.6
-
83
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, Thijs V, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology. 2011;76:2066-72.
-
(2011)
Neurology
, vol.76
, pp. 2066-2072
-
-
Damme, P.1
Veldink, J.H.2
Blitterswijk, M.3
Corveleyn, A.4
Vught, P.W.5
Thijs, V.6
-
84
-
-
4344676312
-
Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease
-
Infante J, Berciano J, Volpini V, Corral J, Polo JM, Pascual J, et al. Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease. Mov Disord. 2004;19:848-52.
-
(2004)
Mov Disord
, vol.19
, pp. 848-852
-
-
Infante, J.1
Berciano, J.2
Volpini, V.3
Corral, J.4
Polo, J.M.5
Pascual, J.6
-
85
-
-
73449090497
-
Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature
-
Nanetti L, Fancellu R, Tomasello C, Gellera C, Pareyson D, Mariotti C. Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature. J Neurol. 2009;256:1926-8.
-
(2009)
J Neurol
, vol.256
, pp. 1926-1928
-
-
Nanetti, L.1
Fancellu, R.2
Tomasello, C.3
Gellera, C.4
Pareyson, D.5
Mariotti, C.6
-
86
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004;36:377-81.
-
(2004)
Nat Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
Mehta, S.G.4
Mumm, S.5
Darvish, D.6
-
87
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, 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
Abramzon, Y.4
Deerlin, V.M.5
Trojanowski, J.Q.6
-
88
-
-
84871331678
-
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
-
Gonzalez-Perez P, Cirulli ET, Drory VE, Dabby R, Nisipeanu P, Carasso RL, et al. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology. 2012;79:2201-8.
-
(2012)
Neurology
, vol.79
, pp. 2201-2208
-
-
Gonzalez-Perez, P.1
Cirulli, E.T.2
Drory, V.E.3
Dabby, R.4
Nisipeanu, P.5
Carasso, R.L.6
-
89
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, 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
Boycott, K.M.4
Gorrie, G.H.5
Siddique, N.6
-
90
-
-
84856975767
-
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
-
Millecamps S, Corcia P, Cazeneuve C, Boillee S, Seilhean D, Danel-Brunaud V, 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
-
-
Millecamps, S.1
Corcia, P.2
Cazeneuve, C.3
Boillee, S.4
Seilhean, D.5
Danel-Brunaud, V.6
-
91
-
-
84155163741
-
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
-
Al-Saif A, Al-Mohanna F, Bohlega S. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol. 2011;70:913-9.
-
(2011)
Ann Neurol
, vol.70
, pp. 913-919
-
-
Al-Saif, A.1
Al-Mohanna, F.2
Bohlega, S.3
-
92
-
-
84872493515
-
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia
-
Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet. 2013;21:237-9.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 237-239
-
-
Belzil, V.V.1
Daoud, H.2
Camu, W.3
Strong, M.J.4
Dion, P.A.5
Rouleau, G.A.6
-
93
-
-
84931079265
-
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy
-
Li X, Hu Z, Liu L, Xie Y, Zhan Y, Zi X, et al. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology. 2015;84:2430-7.
-
(2015)
Neurology
, vol.84
, pp. 2430-2437
-
-
Li, X.1
Hu, Z.2
Liu, L.3
Xie, Y.4
Zhan, Y.5
Zi, X.6
-
94
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005;37:806-8.
-
(2005)
Nat Genet
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
Parkinson, N.J.2
Brown, J.M.3
Chakrabarti, L.4
Lloyd, S.L.5
Hummerich, H.6
-
95
-
-
77956392186
-
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
-
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, et al. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One. 2010;5:e9872.
-
(2010)
PLoS One
, vol.5
, pp. e9872
-
-
Cox, L.E.1
Ferraiuolo, L.2
Goodall, E.F.3
Heath, P.R.4
Higginbottom, A.5
Mortiboys, H.6
-
96
-
-
84869102685
-
Genetic overlap between apparently sporadic motor neuron diseases
-
van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, et al. Genetic overlap between apparently sporadic motor neuron diseases. PLoS One. 2012;7:e48983.
-
(2012)
PLoS One
, vol.7
, pp. e48983
-
-
Blitterswijk, M.1
Vlam, L.2
Es, M.A.3
Pol, W.L.4
Hennekam, E.A.5
Dooijes, D.6
-
97
-
-
84865235172
-
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
-
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, 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
Keagle, P.J.4
Sapp, P.C.5
Piotrowska, K.6
-
98
-
-
84872346600
-
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
-
Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupre N, Dion PA, 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. 1311
-
-
Daoud, H.1
Dobrzeniecka, S.2
Camu, W.3
Meininger, V.4
Dupre, N.5
Dion, P.A.6
-
99
-
-
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, Volk AE, Akimoto C, Birve A, 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;1708(34):e1-6.
-
(2013)
Neurobiol Aging
, vol.1708
, Issue.34
, pp. e1-e6
-
-
Ingre, C.1
Landers, J.E.2
Rizik, N.3
Volk, A.E.4
Akimoto, C.5
Birve, A.6
-
100
-
-
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;1709(34):e1-2.
-
(2013)
Neurobiol Aging
, vol.1709
, Issue.34
, pp. e1-e2
-
-
Lattante, S.1
Ber, I.2
Camuzat, A.3
Brice, A.4
Kabashi, E.5
-
101
-
-
84923474658
-
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
-
Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, et al. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. Neurobiol Aging. 2015;1602(36):e17-27.
-
(2015)
Neurobiol Aging
, vol.1602
, Issue.36
, pp. e17-e27
-
-
Smith, B.N.1
Vance, C.2
Scotter, E.L.3
Troakes, C.4
Wong, C.H.5
Topp, S.6
-
102
-
-
84890439549
-
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
-
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. 2013;93:900-5.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 900-905
-
-
Takahashi, Y.1
Fukuda, Y.2
Yoshimura, J.3
Toyoda, A.4
Kurppa, K.5
Moritoyo, H.6
-
103
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013;495:467-73.
-
(2013)
Nature
, vol.495
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
-
104
-
-
84899904528
-
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy
-
Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, et al. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Neurobiol Aging. 2014;35:1956. e9-56 e11.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 1956
-
-
Seelen, M.1
Visser, A.E.2
Overste, D.J.3
Kim, H.J.4
Palud, A.5
Wong, T.H.6
-
105
-
-
85058205678
-
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes
-
Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, et al. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. Neurobiol Aging. 2014;35:934. e5-6.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 934
-
-
Ber, I.1
Bortel, I.2
Nicolas, G.3
Bouya-Ahmed, K.4
Camuzat, A.5
Wallon, D.6
-
106
-
-
84899644069
-
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
-
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, 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
Chia, R.4
Feit, H.5
Renton, A.E.6
-
107
-
-
84970916277
-
Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis
-
Lin KP, Tsai PC, Liao YC, Chen WT, Tsai CP, Soong BW, et al. Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2005;2015(36):e1-4.
-
(2005)
Neurobiol Aging
, vol.2015
, Issue.36
, pp. e1-e4
-
-
Lin, K.P.1
Tsai, P.C.2
Liao, Y.C.3
Chen, W.T.4
Tsai, C.P.5
Soong, B.W.6
-
108
-
-
84950264308
-
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
-
Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, et al. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2015;37:209.
-
(2015)
Neurobiol Aging
, vol.37
, pp. 209
-
-
Leblond, C.S.1
Gan-Or, Z.2
Spiegelman, D.3
Laurent, S.B.4
Szuto, A.5
Hodgkinson, A.6
-
109
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, 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
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
-
110
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, 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
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
-
111
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
-
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet. 2013;21:102-8.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 102-108
-
-
Smith, B.N.1
Newhouse, S.2
Shatunov, A.3
Vance, C.4
Topp, S.5
Johnson, L.6
-
112
-
-
84866760281
-
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
-
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012;33:2950. e5-7.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2950
-
-
Rutherford, N.J.1
Heckman, M.G.2
Dejesus-Hernandez, M.3
Baker, M.C.4
Soto-Ortolaza, A.I.5
Rayaprolu, S.6
-
113
-
-
84856132922
-
Repeat expansion in C9ORF72 in Alzheimer's disease
-
Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, 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
Perry, R.4
Bassett, S.S.5
Pletnikova, O.6
-
114
-
-
84895768608
-
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
-
Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 2014;82:292-9.
-
(2014)
Neurology
, vol.82
, pp. 292-299
-
-
Hensman Moss, D.J.1
Poulter, M.2
Beck, J.3
Hehir, J.4
Polke, J.M.5
Campbell, T.6
-
115
-
-
84874318643
-
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
-
Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain. 2013;136:385-91.
-
(2013)
Brain
, vol.136
, pp. 385-391
-
-
Lesage, S.1
Ber, I.2
Condroyer, C.3
Broussolle, E.4
Gabelle, A.5
Thobois, S.6
-
116
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003;33:455-6.
-
(2003)
Nat Genet
, vol.33
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
Holzbaur, E.L.4
Tokito, M.5
Mann, E.6
-
117
-
-
84911390463
-
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system
-
Liu ZJ, Li HF, Tan GH, Tao QQ, Ni W, Cheng XW, et al. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiol Aging. 2014;35:2881. e11-5.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 2881
-
-
Liu, Z.J.1
Li, H.F.2
Tan, G.H.3
Tao, Q.Q.4
Ni, W.5
Cheng, X.W.6
-
118
-
-
27644558934
-
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
-
Munch C, Rosenbohm A, Sperfeld AD, Uttner I, Reske S, Krause BJ, et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol. 2005;58:777-80.
-
(2005)
Ann Neurol
, vol.58
, pp. 777-780
-
-
Munch, C.1
Rosenbohm, A.2
Sperfeld, A.D.3
Uttner, I.4
Reske, S.5
Krause, B.J.6
-
119
-
-
59149097039
-
DCTN1 mutations in Perry syndrome
-
Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, et al. DCTN1 mutations in Perry syndrome. Nat Genet. 2009;41:163-5.
-
(2009)
Nat Genet
, vol.41
, pp. 163-165
-
-
Farrer, M.J.1
Hulihan, M.M.2
Kachergus, J.M.3
Dachsel, J.C.4
Stoessl, A.J.5
Grantier, L.L.6
-
120
-
-
84906087642
-
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy
-
Araki E, Tsuboi Y, Daechsel J, Milnerwood A, Vilarino-Guell C, Fujii N, et al. A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. Mov Disord. 2014;29:1201-4.
-
(2014)
Mov Disord
, vol.29
, pp. 1201-1204
-
-
Araki, E.1
Tsuboi, Y.2
Daechsel, J.3
Milnerwood, A.4
Vilarino-Guell, C.5
Fujii, N.6
-
121
-
-
84893828881
-
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes
-
Caroppo P, Le Ber I, Clot F, Rivaud-Pechoux S, Camuzat A, De Septenville A, et al. DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. JAMA Neurol. 2014;71:208-15.
-
(2014)
JAMA Neurol
, vol.71
, pp. 208-215
-
-
Caroppo, P.1
Ber, I.2
Clot, F.3
Rivaud-Pechoux, S.4
Camuzat, A.5
Septenville, A.6
-
122
-
-
0036094026
-
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone
-
Laurin N, Brown JP, Morissette J, Raymond V. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet. 2002;70:1582-8.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1582-1588
-
-
Laurin, N.1
Brown, J.P.2
Morissette, J.3
Raymond, V.4
-
123
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2011;68:1440-6.
-
(2011)
Arch Neurol
, vol.68
, pp. 1440-1446
-
-
Fecto, F.1
Yan, J.2
Vemula, S.P.3
Liu, E.4
Yang, Y.5
Chen, W.6
-
124
-
-
84873653136
-
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
-
Hirano M, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Isono C, et al. Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology. 2013;80:458-63.
-
(2013)
Neurology
, vol.80
, pp. 458-463
-
-
Hirano, M.1
Nakamura, Y.2
Saigoh, K.3
Sakamoto, H.4
Ueno, S.5
Isono, C.6
-
125
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology. 2012;79:1556-62.
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chio, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
-
126
-
-
84889579061
-
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis
-
Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, et al. SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2014;35:726. e7-9.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 726
-
-
Chen, Y.1
Zheng, Z.Z.2
Chen, X.3
Huang, R.4
Yang, Y.5
Yuan, L.6
|