-
1
-
-
33750967363
-
The epidemiology of ALS and the role of population-based registries
-
E. Beghi, G. Logroscino, A. Chio, O. Hardiman, D. Mitchell, and R. Swingler et al. The epidemiology of ALS and the role of population-based registries Biochim Biophys Acta 1762 11-12 2006 1150 1157
-
(2006)
Biochim Biophys Acta
, vol.1762
, Issue.1112
, pp. 1150-1157
-
-
Beghi, E.1
Logroscino, G.2
Chio, A.3
Hardiman, O.4
Mitchell, D.5
Swingler, R.6
-
3
-
-
35148846841
-
Genetic susceptibility to environmental toxicants in ALS
-
J.M. Morahan, B. Yu, R.J. Trent, and R. Pamphlett Genetic susceptibility to environmental toxicants in ALS Am J Med Genet B Neuropsychiatr Genet 144b 7 2007 885 890
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, Issue.7
, pp. 885-890
-
-
Morahan, J.M.1
Yu, B.2
Trent, R.J.3
Pamphlett, R.4
-
4
-
-
33751120678
-
Amyotrophic lateral sclerosis as a complex genetic disease
-
C.L. Simpson, and A. Al-Chalabi Amyotrophic lateral sclerosis as a complex genetic disease Biochim Biophys Acta 1762 11-12 2006 973 985
-
(2006)
Biochim Biophys Acta
, vol.1762
, Issue.1112
, pp. 973-985
-
-
Simpson, C.L.1
Al-Chalabi, A.2
-
5
-
-
38449113556
-
Genetics of sporadic amyotrophic lateral sclerosis
-
J.C. Schymick, K. Talbot, and B.J. Traynor Genetics of sporadic amyotrophic lateral sclerosis Hum Mol Genet 16 Spec No. 2 2007 R233 R242
-
(2007)
Hum Mol Genet
, vol.16
, Issue.SPEC NO. 2
-
-
Schymick, J.C.1
Talbot, K.2
Traynor, B.J.3
-
7
-
-
78649461312
-
A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2
-
F.M. Jodelka, A.D. Ebert, D.M. Duelli, and M.L. Hastings A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2 Hum Mol Genet 19 24 2010 4906 4917
-
(2010)
Hum Mol Genet
, vol.19
, Issue.24
, pp. 4906-4917
-
-
Jodelka, F.M.1
Ebert, A.D.2
Duelli, D.M.3
Hastings, M.L.4
-
8
-
-
84871718500
-
Spinal muscular atrophy: Going beyond the motor neuron
-
G. Hamilton, and T.H. Gillingwater Spinal muscular atrophy: going beyond the motor neuron Trends Mol Med 19 1 2013 40 50
-
(2013)
Trends Mol Med
, vol.19
, Issue.1
, pp. 40-50
-
-
Hamilton, G.1
Gillingwater, T.H.2
-
9
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
S. Lefebvre, L. Burglen, S. Reboullet, O. Clermont, P. Burlet, and L. Viollet et al. Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1 1995 155 165
-
(1995)
Cell
, vol.80
, Issue.1
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
-
10
-
-
45249106162
-
Spinal muscular atrophy
-
M.R. Lunn, and C.H. Wang Spinal muscular atrophy Lancet 371 9630 2008 2120 2133
-
(2008)
Lancet
, vol.371
, Issue.9630
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
11
-
-
33749848158
-
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
-
P. Corcia, W. Camu, J.M. Halimi, P. Vourc'h, C. Antar, and S. Vedrine et al. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS Neurology 67 7 2006 1147 1150
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1147-1150
-
-
Corcia, P.1
Camu, W.2
Halimi, J.M.3
Vourc'H, P.4
Antar, C.5
Vedrine, S.6
-
12
-
-
0036156999
-
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
-
P. Corcia, V. Mayeux-Portas, J. Khoris, B. de Toffol, A. Autret, and J.P. Muh et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis Ann Neurol 51 2 2002 243 246
-
(2002)
Ann Neurol
, vol.51
, Issue.2
, pp. 243-246
-
-
Corcia, P.1
Mayeux-Portas, V.2
Khoris, J.3
De Toffol, B.4
Autret, A.5
Muh, J.P.6
-
13
-
-
84859931823
-
SMN1 gene duplications are associated with sporadic ALS
-
H.M. Blauw, C.P. Barnes, P.W. van Vught, W. van Rheenen, M. Verheul, and E. Cuppen et al. SMN1 gene duplications are associated with sporadic ALS Neurology 78 11 2012 776 780
-
(2012)
Neurology
, vol.78
, Issue.11
, pp. 776-780
-
-
Blauw, H.M.1
Barnes, C.P.2
Van Vught, P.W.3
Van Rheenen, W.4
Verheul, M.5
Cuppen, E.6
-
14
-
-
70450179486
-
The importance of the SMN genes in the genetics of sporadic ALS
-
P. Corcia, W. Camu, J. Praline, P.H. Gordon, P. Vourch, and C. Andres The importance of the SMN genes in the genetics of sporadic ALS Amyotroph Lateral Scler 10 5-6 2009 436 440
-
(2009)
Amyotroph Lateral Scler
, vol.10
, Issue.56
, pp. 436-440
-
-
Corcia, P.1
Camu, W.2
Praline, J.3
Gordon, P.H.4
Vourch, P.5
Andres, C.6
-
15
-
-
84859911665
-
Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
-
P. Corcia, C. Ingre, H. Blasco, R. Press, J. Praline, and C. Antar et al. Homozygous SMN2 deletion is a protective factor in the Swedish ALS population Eur J Hum Genet 20 5 2012 588 591
-
(2012)
Eur J Hum Genet
, vol.20
, Issue.5
, pp. 588-591
-
-
Corcia, P.1
Ingre, C.2
Blasco, H.3
Press, R.4
Praline, J.5
Antar, C.6
-
16
-
-
0037069237
-
Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients
-
J. Gamez, M.J. Barcelo, X. Munoz, F. Carmona, I. Cusco, and M. Baiget et al. Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients Neurology 59 9 2002 1456 1460
-
(2002)
Neurology
, vol.59
, Issue.9
, pp. 1456-1460
-
-
Gamez, J.1
Barcelo, M.J.2
Munoz, X.3
Carmona, F.4
Cusco, I.5
Baiget, M.6
-
17
-
-
84255184836
-
Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients
-
J.B. Lee, K.A. Lee, J.M. Hong, G.I. Suh, and Y.C. Choi Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients Yonsei Med J 53 1 2012 53 57
-
(2012)
Yonsei Med J
, vol.53
, Issue.1
, pp. 53-57
-
-
Lee, J.B.1
Lee, K.A.2
Hong, J.M.3
Suh, G.I.4
Choi, Y.C.5
-
18
-
-
0031958077
-
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
-
B. Moulard, F. Salachas, B. Chassande, V. Briolotti, V. Meininger, and A. Malafosse et al. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease Ann Neurol 43 5 1998 640 644
-
(1998)
Ann Neurol
, vol.43
, Issue.5
, pp. 640-644
-
-
Moulard, B.1
Salachas, F.2
Chassande, B.3
Briolotti, V.4
Meininger, V.5
Malafosse, A.6
-
19
-
-
0030899577
-
The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS
-
R.W. Orrell, J.J. Habgood, J.S. de Belleroche, and R.J. Lane The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS J Neurol Sci 145 1 1997 55 61
-
(1997)
J Neurol Sci
, vol.145
, Issue.1
, pp. 55-61
-
-
Orrell, R.W.1
Habgood, J.J.2
De Belleroche, J.S.3
Lane, R.J.4
-
20
-
-
0033058289
-
Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis
-
J.S. Parboosingh, V. Meininger, D. McKenna-Yasek, R.H. Brown Jr., and G.A. Rouleau Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis Arch Neurol 56 6 1999 710 712
-
(1999)
Arch Neurol
, vol.56
, Issue.6
, pp. 710-712
-
-
Parboosingh, J.S.1
Meininger, V.2
McKenna-Yasek, D.3
Brown Jr., R.H.4
Rouleau, G.A.5
-
21
-
-
25444493946
-
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
-
J.H. Veldink, S. Kalmijn, A.H. Van der Hout, H.H. Lemmink, G.J. Groeneveld, and C. Lummen et al. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS Neurology 65 6 2005 820 825
-
(2005)
Neurology
, vol.65
, Issue.6
, pp. 820-825
-
-
Veldink, J.H.1
Kalmijn, S.2
Van Der Hout, A.H.3
Lemmink, H.H.4
Groeneveld, G.J.5
Lummen, C.6
-
22
-
-
0035957312
-
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
-
J.H. Veldink, L.H. van den Berg, J.M. Cobben, R.P. Stulp, J.M. De Jong, and O.J. Vogels et al. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS Neurology 56 6 2001 749 752
-
(2001)
Neurology
, vol.56
, Issue.6
, pp. 749-752
-
-
Veldink, J.H.1
Van Den Berg, L.H.2
Cobben, J.M.3
Stulp, R.P.4
De Jong, J.M.5
Vogels, O.J.6
-
23
-
-
77957661914
-
Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses
-
A. Stang Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses Eur J Epidemiol 25 9 2010 603 605
-
(2010)
Eur J Epidemiol
, vol.25
, Issue.9
, pp. 603-605
-
-
Stang, A.1
-
24
-
-
84863724227
-
Bonferroni-based correction factor for multiple, correlated endpoints
-
Q. Shi, E.S. Pavey, and R.E. Carter Bonferroni-based correction factor for multiple, correlated endpoints Pharm Stat 11 4 2012 300 309
-
(2012)
Pharm Stat
, vol.11
, Issue.4
, pp. 300-309
-
-
Shi, Q.1
Pavey, E.S.2
Carter, R.E.3
-
25
-
-
0041876133
-
Measuring inconsistency in meta-analyses
-
J.P. Higgins, S.G. Thompson, J.J. Deeks, and D.G. Altman Measuring inconsistency in meta-analyses BMJ 327 7414 2003 557 560
-
(2003)
BMJ
, vol.327
, Issue.7414
, pp. 557-560
-
-
Higgins, J.P.1
Thompson, S.G.2
Deeks, J.J.3
Altman, D.G.4
-
26
-
-
0028659004
-
Operating characteristics of a rank correlation test for publication bias
-
C.B. Begg, and M. Mazumdar Operating characteristics of a rank correlation test for publication bias Biometrics 50 4 1994 1088 1101
-
(1994)
Biometrics
, vol.50
, Issue.4
, pp. 1088-1101
-
-
Begg, C.B.1
Mazumdar, M.2
-
27
-
-
0030922816
-
Bias in meta-analysis detected by a simple, graphical test
-
M. Egger, G. Davey Smith, M. Schneider, and C. Minder Bias in meta-analysis detected by a simple, graphical test BMJ 315 7109 1997 629 634
-
(1997)
BMJ
, vol.315
, Issue.7109
, pp. 629-634
-
-
Egger, M.1
Davey Smith, G.2
Schneider, M.3
Minder, C.4
-
28
-
-
84891373339
-
Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice
-
B.J. Turner, N. Alfazema, R.K. Sheean, J.N. Sleigh, K.E. Davies, and M.K. Horne et al. Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice Neurobiol Aging 35 4 2014 906 915
-
(2014)
Neurobiol Aging
, vol.35
, Issue.4
, pp. 906-915
-
-
Turner, B.J.1
Alfazema, N.2
Sheean, R.K.3
Sleigh, J.N.4
Davies, K.E.5
Horne, M.K.6
-
29
-
-
67349285905
-
Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model
-
B.J. Turner, N.J. Parkinson, K.E. Davies, and K. Talbot Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model Neurobiol Dis 34 3 2009 511 517
-
(2009)
Neurobiol Dis
, vol.34
, Issue.3
, pp. 511-517
-
-
Turner, B.J.1
Parkinson, N.J.2
Davies, K.E.3
Talbot, K.4
-
30
-
-
36048985104
-
SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity
-
T. Zou, R. Ilangovan, F. Yu, Z. Xu, and J. Zhou SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity Biochem Biophys Res Commun 364 4 2007 850 855
-
(2007)
Biochem Biophys Res Commun
, vol.364
, Issue.4
, pp. 850-855
-
-
Zou, T.1
Ilangovan, R.2
Yu, F.3
Xu, Z.4
Zhou, J.5
-
31
-
-
0036192733
-
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease
-
A. Echaniz-Laguna, C. Guiraud-Chaumeil, C. Tranchant, A. Reeber, J. Melki, and J.M. Warter Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease J Neurol 249 3 2002 290 293
-
(2002)
J Neurol
, vol.249
, Issue.3
, pp. 290-293
-
-
Echaniz-Laguna, A.1
Guiraud-Chaumeil, C.2
Tranchant, C.3
Reeber, A.4
Melki, J.5
Warter, J.M.6
-
32
-
-
77958064674
-
Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population
-
J. Kim, S.G. Lee, Y.C. Choi, S.W. Kang, J.B. Lee, and J.R. Choi et al. Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population Ann Clin Lab Sci 40 4 2010 368 374
-
(2010)
Ann Clin Lab Sci
, vol.40
, Issue.4
, pp. 368-374
-
-
Kim, J.1
Lee, S.G.2
Choi, Y.C.3
Kang, S.W.4
Lee, J.B.5
Choi, J.R.6
-
34
-
-
0037069308
-
SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist
-
P. Corcia, J. Khoris, P. Couratier, V. Mayeux-Portas, E. Bieth, and B. De Toffol et al. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist Neurology 59 9 2002 1464 1466
-
(2002)
Neurology
, vol.59
, Issue.9
, pp. 1464-1466
-
-
Corcia, P.1
Khoris, J.2
Couratier, P.3
Mayeux-Portas, V.4
Bieth, E.5
De Toffol, B.6
-
35
-
-
0029943383
-
Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous NAIP deletion in a sporadic case
-
M. Jackson, K.E. Morrison, A. Al-Chalabi, M. Bakker, and P.N. Leigh Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case Ann Neurol 39 6 1996 796 800
-
(1996)
Ann Neurol
, vol.39
, Issue.6
, pp. 796-800
-
-
Jackson, M.1
Morrison, K.E.2
Al-Chalabi, A.3
Bakker, M.4
Leigh, P.N.5
-
36
-
-
4143145303
-
Meta-analysis of genetic association studies
-
M.R. Munafo, and J. Flint Meta-analysis of genetic association studies Trends Genet 20 9 2004 439 444
-
(2004)
Trends Genet
, vol.20
, Issue.9
, pp. 439-444
-
-
Munafo, M.R.1
Flint, J.2
-
37
-
-
36549038087
-
Consequences of genome duplication
-
M. Semon, and K.H. Wolfe Consequences of genome duplication Curr Opin Genet Dev 17 6 2007 505 512
-
(2007)
Curr Opin Genet Dev
, vol.17
, Issue.6
, pp. 505-512
-
-
Semon, M.1
Wolfe, K.H.2
-
38
-
-
84861010134
-
Genome and gene duplications and gene expression divergence: A view from plants
-
Y. Wang, X. Wang, and A.H. Paterson Genome and gene duplications and gene expression divergence: a view from plants Ann N Y Acad Sci 1256 2012 1 14
-
(2012)
Ann N y Acad Sci
, vol.1256
, pp. 1-14
-
-
Wang, Y.1
Wang, X.2
Paterson, A.H.3
-
39
-
-
52949129447
-
A robust statistical method for case-control association testing with copy number variation
-
C. Barnes, V. Plagnol, T. Fitzgerald, R. Redon, J. Marchini, and D. Clayton et al. A robust statistical method for case-control association testing with copy number variation Nat Genet 40 10 2008 1245 1252
-
(2008)
Nat Genet
, vol.40
, Issue.10
, pp. 1245-1252
-
-
Barnes, C.1
Plagnol, V.2
Fitzgerald, T.3
Redon, R.4
Marchini, J.5
Clayton, D.6
-
40
-
-
10044220623
-
New insights on the evolution of the SMN1 and SMN2 region: Simulation and meta-analysis for allele and haplotype frequency calculations
-
S. Ogino, R.B. Wilson, and B. Gold New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations Eur J Hum Genet 12 12 2004 1015 1023
-
(2004)
Eur J Hum Genet
, vol.12
, Issue.12
, pp. 1015-1023
-
-
Ogino, S.1
Wilson, R.B.2
Gold, B.3
-
41
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
C.N. Henrichsen, N. Vinckenbosch, S. Zollner, E. Chaignat, S. Pradervand, and F. Schutz et al. Segmental copy number variation shapes tissue transcriptomes Nat Genet 41 4 2009 424 429
-
(2009)
Nat Genet
, vol.41
, Issue.4
, pp. 424-429
-
-
Henrichsen, C.N.1
Vinckenbosch, N.2
Zollner, S.3
Chaignat, E.4
Pradervand, S.5
Schutz, F.6
|