-
1
-
-
0029977337
-
Dose-ranging study of riluzole in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis/Riluzole Study Group II
-
Lacomblez, L., Bensimon, G., Leigh, P.N., Guillet, P. and Meininger, V. (1996) Dose-ranging study of riluzole in amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet, 347, 1425-1431.
-
(1996)
Lancet
, vol.347
, pp. 1425-1431
-
-
Lacomblez, L.1
Bensimon, G.2
Leigh, P.N.3
Guillet, P.4
Meininger, V.5
-
2
-
-
23144445291
-
Incidence of amyotrophic lateral sclerosis in southern Italy: A population based study
-
Logroscino, G., Beghi, E., Zoccolella, S., Palagano, R., Fraddosio, A., Simone, I.L., Lamberd, P., Lepore, V., Serlenga, L. and Registry, S.L.A.P. (2005) Incidence of amyotrophic lateral sclerosis in southern Italy: A population based study. J Neurol. Neurosurg. Psychiatry, 76, 1094-1098.
-
(2005)
J Neurol. Neurosurg. Psychiatry
, vol.76
, pp. 1094-1098
-
-
Logroscino, G.1
Beghi, E.2
Zoccolella, S.3
Palagano, R.4
Fraddosio, A.5
Simone, I.L.6
Lamberd, P.7
Lepore, V.8
Serlenga, L.9
Registry, S.L.A.P.10
-
3
-
-
0027401203
-
Mutations in Cu/Znsuperoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen, D.R., Siddique, T., Patterson, D., Figlewicz, D.A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J.P., Deng, H.X. et al. (1993) Mutations in Cu/Znsuperoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 362, 59-62.
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
Hentati, A.6
Donaldson, D.7
Goto, J.8
O'Regan, J.P.9
Deng, H.X.10
-
4
-
-
0037382240
-
Mutant dynactin in motorneuron disease
-
Puls, I., Jonnakuty, C., LaMonte, B.H., Holzbaur, E.L., Tokito, M., Mann, E., Floeter, M.K., Bidus, K., Drayna, D., Oh, S.J. et al. (2003) Mutant dynactin in motorneuron disease. Nat. Genet., 33 455-456.
-
(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
Floeter, M.K.7
Bidus, K.8
Drayna, D.9
Oh, S.J.10
-
5
-
-
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, H.X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.Y., Ouahchi, K., Yan, J., Azim, A.C. et al. (2001) 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., 29, 160-165.
-
(2001)
Nat. Genet
, vol.29
, pp. 160-165
-
-
Yang, Y.1
Hentati, A.2
Deng, H.X.3
Dabbagh, O.4
Sasaki, T.5
Hirano, M.6
Hung, W.Y.7
Ouahchi, K.8
Yan, J.9
Azim, A.C.10
-
6
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura, A.L., Mitne-Neto, M., Silva, H.C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J.R., Gillingwater, T., Webb, J. et al. (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet., 75, 822-831.
-
(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
Kok, F.7
Oliveira, J.R.8
Gillingwater, T.9
Webb, J.10
-
7
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen, Y.Z., Bennett, C.L., Huynh, H.M., Blair, I.P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M.L., Rabin, B.A. et al. (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet., 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
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
-
8
-
-
33645422711
-
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
-
Greenway, M.J., Andersen, P.M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J. et al. (2006) ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat. Genet., 38, 411-413.
-
(2006)
Nat. Genet
, vol.38
, pp. 411-413
-
-
Greenway, M.J.1
Andersen, P.M.2
Russ, C.3
Ennis, S.4
Cashman, S.5
Donaghy, C.6
Patterson, V.7
Swingler, R.8
Kieran, D.9
Prehn, J.10
-
9
-
-
38449113556
-
Genetics of sporadic amyotrophic lateral sclerosis
-
First published Online Oct. 15, PMID 17911166
-
Schymick, J.C., Talbot, K. and Traynor, B.J. (2007) Genetics of sporadic amyotrophic lateral sclerosis. Hum. Mol. Genet., First published Online Oct. 15, PMID 17911166.
-
(2007)
Hum. Mol. Genet
-
-
Schymick, J.C.1
Talbot, K.2
Traynor, B.J.3
-
10
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
11
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D.R., Hinds, D.A., Pennacchio, L.A., Tybjaerg-Hansen, A., Folsom, A.R. et al. (2007) A common allele on chromosome 9 associated with coronary heart disease. Science, 316, 1488-1491.
-
(2007)
Science
, vol.316
, pp. 1488-1491
-
-
McPherson, R.1
Pertsemlidis, A.2
Kavaslar, N.3
Stewart, A.4
Roberts, R.5
Cox, D.R.6
Hinds, D.A.7
Pennacchio, L.A.8
Tybjaerg-Hansen, A.9
Folsom, A.R.10
-
12
-
-
34548032087
-
Genome-wide association studies provide new insights into type 2 diabetes aetiology
-
Frayling, T.M. (2007) Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat. Rev. Genet., 8 657-662.
-
(2007)
Nat. Rev. Genet
, vol.8
, pp. 657-662
-
-
Frayling, T.M.1
-
13
-
-
34250006413
-
Genome-wide association study identifies novel breast cancer susceptibility loci
-
Easton, D.F., Pooley, K.A., Dunning, A.M., Pharoah, P.D., Thompson, D., Ballinger, D.G., Struewing, J.P., Morrison, J., Field, H., Luben, R. et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447, 1087-1093.
-
(2007)
Nature
, vol.447
, pp. 1087-1093
-
-
Easton, D.F.1
Pooley, K.A.2
Dunning, A.M.3
Pharoah, P.D.4
Thompson, D.5
Ballinger, D.G.6
Struewing, J.P.7
Morrison, J.8
Field, H.9
Luben, R.10
-
14
-
-
34548083742
-
Whole-genome analysis of sporadic amyotrophic lateral sclerosis
-
Dunckley, T., Huentelman, M.J., Craig, D.W., Pearson, J.V., Szelinger, S., Joshipura, K., Halperin, F.F., Stamper, C., Jensen, K.R., Letizia, D. et al. (2007) Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N. Engl. J. Med., 357, 775-788.
-
(2007)
N. Engl. J. Med
, vol.357
, pp. 775-788
-
-
Dunckley, T.1
Huentelman, M.J.2
Craig, D.W.3
Pearson, J.V.4
Szelinger, S.5
Joshipura, K.6
Halperin, F.F.7
Stamper, C.8
Jensen, K.R.9
Letizia, D.10
-
15
-
-
33847622526
-
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
-
Schymick, J.C., Scholz, S.W., Fung, H.C., Britton, A., Arepalli, S., Gibbs, J.R., Lombardo, F., Matarin, M., Kasperaviciute, D., Hernandez, D.G. et al. (2007) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data. Lancet Neurol., 6, 322-328.
-
(2007)
Lancet Neurol
, vol.6
, pp. 322-328
-
-
Schymick, J.C.1
Scholz, S.W.2
Fung, H.C.3
Britton, A.4
Arepalli, S.5
Gibbs, J.R.6
Lombardo, F.7
Matarin, M.8
Kasperaviciute, D.9
Hernandez, D.G.10
-
16
-
-
34548646702
-
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study
-
van Es, M.A., Van Vught, P.W., Blauw, H.M., Franke, L., Saris, C.G., Andersen, P.M., Van Den Bosch, L., de Jong, S.W., van't Slot, R. et al. (2007) ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study. Lancet Neural. 6, 869-877.
-
(2007)
Lancet Neural
, vol.6
, pp. 869-877
-
-
van Es, M.A.1
Van Vught, P.W.2
Blauw, H.M.3
Franke, L.4
Saris, C.G.5
Andersen, P.M.6
Van Den Bosch, L.7
de Jong, S.W.8
van't Slot, R.9
-
17
-
-
0034940158
-
(200) The value of isolated populations
-
Shifman, S. and Darvasi, A. (200) The value of isolated populations. Nat. Genet., 28, 309-310.
-
Nat. Genet
, vol.28
, pp. 309-310
-
-
Shifman, S.1
Darvasi, A.2
-
18
-
-
0032707163
-
Population choice in mapping genes for complex diseases
-
Wright, A.F., Carothers, A.D. and Piratsu, M. (1999) Population choice in mapping genes for complex diseases. Nat. Genet., 23, 397-404.
-
(1999)
Nat. Genet
, vol.23
, pp. 397-404
-
-
Wright, A.F.1
Carothers, A.D.2
Piratsu, M.3
-
19
-
-
0034704845
-
Y chromosome variation and Irish origins
-
Hill, E.W., Jobling, M.A. and Bradley, D.G. (2000) Y chromosome variation and Irish origins. Nature, 404, 351-352.
-
(2000)
Nature
, vol.404
, pp. 351-352
-
-
Hill, E.W.1
Jobling, M.A.2
Bradley, D.G.3
-
20
-
-
0003669245
-
-
Dublin Institute for Advanced Studies, Dublin
-
Kelly, F. (1988) A Guide to Early Irish Law. Dublin Institute for Advanced Studies, Dublin.
-
(1988)
A Guide to Early Irish Law
-
-
Kelly, F.1
-
21
-
-
4544225239
-
The Longue Duree of genetic ancestry: Multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe
-
McEvoy, B., Richards, M., Forster, P. and Bradley, D.G. (2004) The Longue Duree of genetic ancestry: Multiple genetic marker systems and Celtic origins on the Atlantic facade of Europe. Am. J. Hum. Genet. 75, 693-702.
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 693-702
-
-
McEvoy, B.1
Richards, M.2
Forster, P.3
Bradley, D.G.4
-
22
-
-
34548292504
-
PLINK: A tool set for whole genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M,A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.L. et al. (2007) PLINK: A tool set for whole genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.L.10
-
23
-
-
0034118493
-
Inference of population structure using multilocus genotype data
-
Pritcharcd, J.K., Stephens, M. and Donnelly, P. (2000) Inference of population structure using multilocus genotype data. Genetics, 155, 945-959.
-
(2000)
Genetics
, vol.155
, pp. 945-959
-
-
Pritcharcd, J.K.1
Stephens, M.2
Donnelly, P.3
-
24
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
-
(2006)
Nat. Genet
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
25
-
-
31744439285
-
Evaluating the potential of whole genome studies in Kosrae, an isolated populatioh in Micronesia
-
Bonnen, P.E., Pe'er, I., Plenge, R.M., Salit, J., Lowe, J.K., Shapero, M.H., Lifton, R.P., Breslow, J.L., Daly, M.J., Reich, D.E. et al. (2006) Evaluating the potential of whole genome studies in Kosrae, an isolated populatioh in Micronesia. Nat. Genet., 38, 214-217.
-
(2006)
Nat. Genet
, vol.38
, pp. 214-217
-
-
Bonnen, P.E.1
Pe'er, I.2
Plenge, R.M.3
Salit, J.4
Lowe, J.K.5
Shapero, M.H.6
Lifton, R.P.7
Breslow, J.L.8
Daly, M.J.9
Reich, D.E.10
-
26
-
-
0034642291
-
Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: Demography, chromosome recombination frequency and selection
-
Zavattari, P., Deidda, E., Whalen, M., Lampis, R., Mulargia, A., Loddo, M., Eaves, I., Mastio, G., Todd, J.A. and Cucca, F. (2000) Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: Demography, chromosome recombination frequency and selection. Hum. Mol. Gen., 9, 2947-2957.
-
(2000)
Hum. Mol. Gen
, vol.9
, pp. 2947-2957
-
-
Zavattari, P.1
Deidda, E.2
Whalen, M.3
Lampis, R.4
Mulargia, A.5
Loddo, M.6
Eaves, I.7
Mastio, G.8
Todd, J.A.9
Cucca, F.10
-
27
-
-
0347287086
-
Extent of linkage disequilibrium in a Sardinian sub-isolate: Sampling and methodological considerations
-
Tenesa, A., Wright, A.F., Knot, S.A., Carothers, C., Hayward, A., Angius, A., Persico, I., Maestrale, G., Hastie, N.D., Pirastu, M. et al.(2004) Extent of linkage disequilibrium in a Sardinian sub-isolate: Sampling and methodological considerations. Hum. Mol. Genet., 13, 25-33.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 25-33
-
-
Tenesa, A.1
Wright, A.F.2
Knot, S.A.3
Carothers, C.4
Hayward, A.5
Angius, A.6
Persico, I.7
Maestrale, G.8
Hastie, N.D.9
Pirastu, M.10
-
28
-
-
0037234025
-
The interval of linkage disequilibrium (LD) detected with microsatellite SNP markers in chromosomes of Finnish populations with different histories
-
Varilo, T., Paunio, T., Parker, A., Perola, M., Meyer, J., Terwilliger, J.D. and Peltonen, L. (2003) The interval of linkage disequilibrium (LD) detected with microsatellite SNP markers in chromosomes of Finnish populations with different histories. Hum. Mol. Genet., 12, 51-59.
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 51-59
-
-
Varilo, T.1
Paunio, T.2
Parker, A.3
Perola, M.4
Meyer, J.5
Terwilliger, J.D.6
Peltonen, L.7
-
29
-
-
33750967363
-
-
Beghi, E., Logroscino, G., Chio, A., Hardiman, O., Mitchell, D., Swingler, R. and Traynor: B.J. and E.U.R.A.L.S. Consortium (2006) The epidemiology of ALS and the role of population-based registries. Biochim. Biophys. Acta, 1762, 1150-1157.
-
Beghi, E., Logroscino, G., Chio, A., Hardiman, O., Mitchell, D., Swingler, R. and Traynor: B.J. and E.U.R.A.L.S. Consortium (2006) The epidemiology of ALS and the role of population-based registries. Biochim. Biophys. Acta, 1762, 1150-1157.
-
-
-
-
30
-
-
0037421685
-
-
Nadal, M.S., Ozaita, A., Amarillo, Y., Vegi-Saenz de Miera, E., Ma, Y., Mo, W., Goldberg, E.M., Misumi, Y., Ikehara, Y., Neubert, et al. (2003) The CD26-related dipeptidylaminopepfidase-hkc protein DPPX is a critical component of neuronal A-type potassium channels. Neuron, 37, 449-461.
-
Nadal, M.S., Ozaita, A., Amarillo, Y., Vegi-Saenz de Miera, E., Ma, Y., Mo, W., Goldberg, E.M., Misumi, Y., Ikehara, Y., Neubert, et al. (2003) The CD26-related dipeptidylaminopepfidase-hkc protein DPPX is a critical component of neuronal A-type potassium channels. Neuron, 37, 449-461.
-
-
-
-
31
-
-
37549062995
-
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
-
van Es, M.A., van Vught, P.W., Blauw, H.M., Franke, L., Saris, C.G., Van den Bosch, L., de Jong, S.W., de Jong, V., Baas, F., van't Slot, R. et al. (2008) Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat. Genet., 40, 29-31.
-
(2008)
Nat. Genet
, vol.40
, pp. 29-31
-
-
van Es, M.A.1
van Vught, P.W.2
Blauw, H.M.3
Franke, L.4
Saris, C.G.5
Van den Bosch, L.6
de Jong, S.W.7
de Jong, V.8
Baas, F.9
van't Slot, R.10
-
32
-
-
0034235669
-
cDNA cloning and expression analysis of new members of the mammalian F-box protein family
-
Ilyin, G.P., Rialland, M., Pigeon, C. and Guguen-Guillouzo, C. (2000) cDNA cloning and expression analysis of new members of the mammalian F-box protein family. Genomics, 67, 40-47.
-
(2000)
Genomics
, vol.67
, pp. 40-47
-
-
Ilyin, G.P.1
Rialland, M.2
Pigeon, C.3
Guguen-Guillouzo, C.4
-
33
-
-
3943102116
-
Unravelling the mechanisms involved in motor neuron degeneration in ALS
-
Bruijn, L.I., Miller, T.M. and Cleveland, D.W. (2004) Unravelling the mechanisms involved in motor neuron degeneration in ALS. Annu. Rev. Neurosci., 27, 723-749.
-
(2004)
Annu. Rev. Neurosci
, vol.27
, pp. 723-749
-
-
Bruijn, L.I.1
Miller, T.M.2
Cleveland, D.W.3
-
34
-
-
31744435871
-
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
-
Genetic power calculator available at http://www.sph.umich.edu/csg/ abecasis/CaTS/index.html
-
Skol, A.D., Scott, L.J., Abecasis, G.R. and Boehnke, M. (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet., 38, 209-213. Genetic power calculator available at http://www.sph.umich.edu/csg/ abecasis/CaTS/index.html
-
(2006)
Nat. Genet
, vol.38
, pp. 209-213
-
-
Skol, A.D.1
Scott, L.J.2
Abecasis, G.R.3
Boehnke, M.4
-
35
-
-
0028142392
-
El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
-
Brooks, B.R. (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J. Neurol. Sci. 124(suppl), 96-107.
-
(1994)
J. Neurol. Sci
, vol.124
, Issue.SUPPL.
, pp. 96-107
-
-
Brooks, B.R.1
-
36
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265.
-
(2005)
Bioinformatics
, vol.21
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
|