-
2
-
-
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
-
4
-
-
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: 160-165.
-
(2001)
Nat Genet
, vol.29
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
-
5
-
-
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: 1128-1135.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
-
6
-
-
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: 411-413.
-
(2006)
Nat Genet
, vol.38
, pp. 411-413
-
-
Greenway, M.J.1
Andersen, P.M.2
Russ, C.3
-
7
-
-
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: 1668-1672.
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
Blair, I.P.2
Tripathi, V.B.3
-
8
-
-
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: 1205-1208.
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski Jr, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
9
-
-
43049155415
-
Familial ALS and genetic approaches to ALS
-
Mitsumoto H, Przedborski S, Gordon P, eds. New York: Taylor & Francis
-
Siddique T, Dellefave L. Familial ALS and genetic approaches to ALS. In: Mitsumoto H, Przedborski S, Gordon P, eds. Amyotrophic Lateral Sclerosis. New York: Taylor & Francis, 2006: 141-166.
-
(2006)
Amyotrophic Lateral Sclerosis
, pp. 141-166
-
-
Siddique, T.1
Dellefave, L.2
-
10
-
-
0036156999
-
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
-
Corcia P, Mayeux-Portas V, Khoris J, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 2002; 51: 243-246.
-
(2002)
Ann Neurol
, vol.51
, pp. 243-246
-
-
Corcia, P.1
Mayeux-Portas, V.2
Khoris, J.3
-
11
-
-
33749848158
-
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
-
Corcia P, Camu W, Halimi JM, et al. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 2006; 67: 1147-1150.
-
(2006)
Neurology
, vol.67
, pp. 1147-1150
-
-
Corcia, P.1
Camu, W.2
Halimi, J.M.3
-
12
-
-
0025257612
-
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
-
Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990; 31: 545-548.
-
(1990)
J Lipid Res
, vol.31
, pp. 545-548
-
-
Hixson, J.E.1
Vernier, D.T.2
-
13
-
-
37849043062
-
Genetics of familial amyotrophic lateral sclerosis
-
Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008; 70: 144-152.
-
(2008)
Neurology
, vol.70
, pp. 144-152
-
-
Valdmanis, P.N.1
Rouleau, G.A.2
-
14
-
-
0037046183
-
APOE: a potential marker of disease progression in ALS
-
Lacomblez L, Doppler V, Beucler I, et al. APOE: a potential marker of disease progression in ALS. Neurology 2002; 58: 1112-1114.
-
(2002)
Neurology
, vol.58
, pp. 1112-1114
-
-
Lacomblez, L.1
Doppler, V.2
Beucler, I.3
-
15
-
-
0028991091
-
Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis
-
Mui S, Rebeck GW, McKenna-Yasek D, Hyman BT, Brown RH Jr. Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis. Ann Neurol 1995; 38: 460-463.
-
(1995)
Ann Neurol
, vol.38
, pp. 460-463
-
-
Mui, S.1
Rebeck, G.W.2
McKenna-Yasek, D.3
Hyman, B.T.4
Brown Jr, R.H.5
-
16
-
-
0030025431
-
Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease
-
al-Chalabi A, Enayat ZE, Bakker MC, et al. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Lancet 1996; 347: 159-160.
-
(1996)
Lancet
, vol.347
, pp. 159-160
-
-
al-Chalabi, A.1
Enayat, Z.E.2
Bakker, M.C.3
-
17
-
-
0029666061
-
Apolipoprotein E epsilon 4 in bulbar-onset motor neuron disease
-
Smith RG, Haverkamp LJ, Case S, Appel V, Appel SH. Apolipoprotein E epsilon 4 in bulbar-onset motor neuron disease. Lancet 1996; 348: 334-335.
-
(1996)
Lancet
, vol.348
, pp. 334-335
-
-
Smith, R.G.1
Haverkamp, L.J.2
Case, S.3
Appel, V.4
Appel, S.H.5
-
18
-
-
0035885774
-
Association of APOE epsilon4 allele with survival in amyotrophic lateral sclerosis
-
Drory VE, Birnbaum M, Korczyn AD, Chapman J. Association of APOE epsilon4 allele with survival in amyotrophic lateral sclerosis. J Neurol Sci 2001; 190: 17-20.
-
(2001)
J Neurol Sci
, vol.190
, pp. 17-20
-
-
Drory, V.E.1
Birnbaum, M.2
Korczyn, A.D.3
Chapman, J.4
-
19
-
-
0029787386
-
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis
-
Moulard B, Sefiani A, Laamri A, Malafosse A, Camu W. Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. J Neurol Sci 1996; 139(Suppl.): 34-37.
-
(1996)
J Neurol Sci
, vol.139
, Issue.SUPPL..
, pp. 34-37
-
-
Moulard, B.1
Sefiani, A.2
Laamri, A.3
Malafosse, A.4
Camu, W.5
-
20
-
-
0031055605
-
Lack of association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease
-
Bachus R, Bader S, Gessner R, Ludolph AC. Lack of association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Ann Neurol 1997; 41: 417.
-
(1997)
Ann Neurol
, vol.41
, pp. 417
-
-
Bachus, R.1
Bader, S.2
Gessner, R.3
Ludolph, A.C.4
-
21
-
-
0032008650
-
Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis
-
Siddique T, Pericak-Vance MA, Caliendo J, et al. Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. Neurogenetics 1998; 1: 213-216.
-
(1998)
Neurogenetics
, vol.1
, pp. 213-216
-
-
Siddique, T.1
Pericak-Vance, M.A.2
Caliendo, J.3
-
22
-
-
50049096429
-
Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis
-
Zetterberg H, Jacobsson J, Rosengren L, Blennow K, Andersen PM. Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis. J Neurol Sci 2008; 273: 67-69.
-
(2008)
J Neurol Sci
, vol.273
, pp. 67-69
-
-
Zetterberg, H.1
Jacobsson, J.2
Rosengren, L.3
Blennow, K.4
Andersen, P.M.5
-
23
-
-
77349110169
-
Association of ALS with head injury, cigarette smoking and APOE genotypes
-
Schmidt S, Kwee LC, Allen KD, Oddone EZ. Association of ALS with head injury, cigarette smoking and APOE genotypes. J Neurol Sci 2010; 291: 22-29.
-
(2010)
J Neurol Sci
, vol.291
, pp. 22-29
-
-
Schmidt, S.1
Kwee, L.C.2
Allen, K.D.3
Oddone, E.Z.4
-
24
-
-
79952725883
-
Does apolipoprotein E genotype modify the clinical expression of ALS?
-
doi: 10.1111/j.1468-1331.2010.03225.x [Epub ahead of print].
-
Jawaid A, Poon M, Strutt AM, et al. Does apolipoprotein E genotype modify the clinical expression of ALS? Eur J Neurol 2010; doi: 10.1111/j.1468-1331.2010.03225.x [Epub ahead of print].
-
(2010)
Eur J Neurol
-
-
Jawaid, A.1
Poon, M.2
Strutt, A.M.3
-
27
-
-
34249997024
-
Replicating genotype-phenotype associations
-
Chanock SJ, Manolio T, Boehnke M, et al. Replicating genotype-phenotype associations. Nature 2007; 447: 655-660.
-
(2007)
Nature
, vol.447
, pp. 655-660
-
-
Chanock, S.J.1
Manolio, T.2
Boehnke, M.3
-
28
-
-
37749032923
-
Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004
-
O'Toole O, Traynor BJ, Brennan P, et al. Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008; 79: 30-32.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 30-32
-
-
O'Toole, O.1
Traynor, B.J.2
Brennan, P.3
-
29
-
-
23144445291
-
Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study
-
Logroscino G, Beghi E, Zoccolella S, et al. Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study. J Neurol Neurosurg Psychiatry 2005; 76: 1094-1098.
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 1094-1098
-
-
Logroscino, G.1
Beghi, E.2
Zoccolella, S.3
-
30
-
-
0033905620
-
Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: a population-based study
-
Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman OM. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: a population-based study. Arch Neurol 2000; 57: 1171-1176.
-
(2000)
Arch Neurol
, vol.57
, pp. 1171-1176
-
-
Traynor, B.J.1
Codd, M.B.2
Corr, B.3
Forde, C.4
Frost, E.5
Hardiman, O.M.6
-
31
-
-
33846087419
-
Incidence of ALS in Lombardy, Italy
-
Beghi E, Millul A, Micheli A, Vitelli E, Logroscino G. Incidence of ALS in Lombardy, Italy. Neurology 2007; 68: 141-145.
-
(2007)
Neurology
, vol.68
, pp. 141-145
-
-
Beghi, E.1
Millul, A.2
Micheli, A.3
Vitelli, E.4
Logroscino, G.5
-
32
-
-
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: 131-134.
-
(2004)
Age Ageing
, vol.33
, pp. 131-134
-
-
Forbes, R.B.1
Colville, S.2
Swingler, R.J.3
-
33
-
-
19944433201
-
Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis
-
Li YJ, Pericak-Vance MA, Haines JL, et al. Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Neurogenetics 2004; 5: 209-213.
-
(2004)
Neurogenetics
, vol.5
, pp. 209-213
-
-
Li, Y.J.1
Pericak-Vance, M.A.2
Haines, J.L.3
-
34
-
-
70350111330
-
Latent cluster analysis of ALS phenotypes identifies prognostically differing groups
-
Ganesalingam J, Stahl D, Wijesekera L, et al. Latent cluster analysis of ALS phenotypes identifies prognostically differing groups. PLoS ONE 2009; 4: e7107.
-
(2009)
PLoS ONE
, vol.4
-
-
Ganesalingam, J.1
Stahl, D.2
Wijesekera, L.3
-
35
-
-
77349123800
-
APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure
-
Bekris LM, Galloway NM, Montine TJ, Schellenberg GD, Yu CE. APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure. Am J Med Genet B Neuropsychiatr Genet 2009; 153B: 409-417.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, vol.153 B
, pp. 409-417
-
-
Bekris, L.M.1
Galloway, N.M.2
Montine, T.J.3
Schellenberg, G.D.4
Yu, C.E.5
-
36
-
-
0030926838
-
Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis
-
Abrahams S, Goldstein LH, Al-Chalabi A, et al. Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1997; 62: 464-472.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 464-472
-
-
Abrahams, S.1
Goldstein, L.H.2
Al-Chalabi, A.3
-
37
-
-
0037426388
-
Are amyotrophic lateral sclerosis patients cognitively normal?
-
Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 2003; 60: 1094-1097.
-
(2003)
Neurology
, vol.60
, pp. 1094-1097
-
-
Lomen-Hoerth, C.1
Murphy, J.2
Langmore, S.3
Kramer, J.H.4
Olney, R.K.5
Miller, B.6
-
38
-
-
64149099061
-
Bulbar and spinal muscular atrophy (Kennedy's disease): a review
-
Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. Eur J Neurol 2009; 16: 556-561.
-
(2009)
Eur J Neurol
, vol.16
, pp. 556-561
-
-
Finsterer, J.1
-
39
-
-
0035504555
-
Molecular pathogenesis of spinal and bulbar muscular atrophy
-
Merry DE. Molecular pathogenesis of spinal and bulbar muscular atrophy. Brain Res Bull 2001; 56: 203-207.
-
(2001)
Brain Res Bull
, vol.56
, pp. 203-207
-
-
Merry, D.E.1
-
40
-
-
42649113050
-
AR, apoE, and cognitive function
-
Raber J. AR, apoE, and cognitive function. Horm Behav 2008; 53: 706-715.
-
(2008)
Horm Behav
, vol.53
, pp. 706-715
-
-
Raber, J.1
-
41
-
-
0037096337
-
Androgens protect against apolipoprotein E4-induced cognitive deficits
-
Raber J, Bongers G, LeFevour A, Buttini M, Mucke L. Androgens protect against apolipoprotein E4-induced cognitive deficits. J Neurosci 2002; 22: 5204-5209.
-
(2002)
J Neurosci
, vol.22
, pp. 5204-5209
-
-
Raber, J.1
Bongers, G.2
LeFevour, A.3
Buttini, M.4
Mucke, L.5
-
42
-
-
34250001454
-
Effects of sex and APOE epsilon4 on object recognition and spatial navigation in the elderly
-
Berteau-Pavy F, Park B, Raber J. Effects of sex and APOE epsilon4 on object recognition and spatial navigation in the elderly. Neuroscience 2007; 147: 6-17.
-
(2007)
Neuroscience
, vol.147
, pp. 6-17
-
-
Berteau-Pavy, F.1
Park, B.2
Raber, J.3
|