-
1
-
-
79952486262
-
Amyotrophic lateral sclerosis
-
Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, et al: Amyotrophic lateral sclerosis. Lancet 377: 942-955, 2011
-
(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
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983, 1993
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, et al: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517, 1987
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
-
4
-
-
0022496289
-
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
-
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, et al: Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323: 646-650, 1986
-
(1986)
Nature
, vol.323
, pp. 646-650
-
-
Monaco, A.P.1
Neve, R.L.2
Colletti-Feener, C.3
Bertelson, C.J.4
Kurnit, D.M.5
-
5
-
-
0026849567
-
Positional cloning: Let's not call it reverse anymore
-
Collins FS: Positional cloning: let's not call it reverse anymore. Nat Genet 1: 3-6, 1992
-
(1992)
Nat Genet
, vol.1
, pp. 3-6
-
-
Collins, F.S.1
-
6
-
-
84865843186
-
The genetics and neuropathology of amyotrophic lateral sclerosis
-
Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, et al: The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol 124: 339-352, 2012
-
(2012)
Acta Neuropathol
, vol.124
, pp. 339-352
-
-
Al-Chalabi, A.1
Jones, A.2
Troakes, C.3
King, A.4
Al-Sarraj, S.5
-
7
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, et al: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62, 1993
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
Figlewicz, D.A.4
Sapp, P.5
-
8
-
-
0028284779
-
Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation
-
Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, et al: Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 264: 1772-1775, 1994
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
Pu, H.2
Chiu, A.Y.3
Dal Canto, M.C.4
Polchow, C.Y.5
-
9
-
-
84856905668
-
Current and prospective disease-modifying therapies for amyotrophic lateral sclerosis
-
Morren JA, Galvez-Jimenez N: Current and prospective disease-modifying therapies for amyotrophic lateral sclerosis. Expert Opin Investig Drugs 21: 297-320, 2012
-
(2012)
Expert Opin Investig Drugs
, vol.21
, pp. 297-320
-
-
Morren, J.A.1
Galvez-Jimenez, N.2
-
10
-
-
84875837572
-
Dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration
-
in press
-
Ikenaka K, Kawai K, Katsuno M, Huang Z, Jiang YM, et al: dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration. PLoS One (in press)
-
PLoS One
-
-
Ikenaka, K.1
Kawai, K.2
Katsuno, M.3
Huang, Z.4
Jiang, Y.M.5
-
11
-
-
84875868781
-
Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
-
in press
-
Iguchi Y, Katsuno M, Niwa J, Takagi S, Ishigaki S, et al: Loss of TDP-43 causes age-dependent progressive motor neuron degeneration. Brain (in press)
-
Brain
-
-
Iguchi, Y.1
Katsuno, M.2
Niwa, J.3
Takagi, S.4
Ishigaki, S.5
-
12
-
-
77953886431
-
Genetics of neurodegenerative diseases: Insights from high-throughput resequencing
-
Tsuji S: Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum Mol Genet 19: R65-R70, 2010
-
(2010)
Hum Mol Genet
, vol.19
-
-
Tsuji, S.1
-
13
-
-
80054837386
-
A hexanucleotide repeat expansion in C90RF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, et al: A hexanucleotide repeat expansion in C90RF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268, 2011
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
-
14
-
-
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, et al: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256, 2011
-
(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
-
15
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, et al: Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11: 323-330, 2012
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
-
16
-
-
34447098853
-
Progranulin null mutations in both sporadic and familial frontotemporal dementia
-
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, et al: Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 28: 846-855, 2007
-
(2007)
Hum Mutat
, vol.28
, pp. 846-855
-
-
Le Ber, I.1
Van Der Zee, J.2
Hannequin, D.3
Gijselinck, I.4
Campion, D.5
-
17
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, et al: Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 33: 2527 e2511-e2526, 2012
-
(2012)
Neurobiol Aging
, vol.33
-
-
Ogaki, K.1
Li, Y.2
Atsuta, N.3
Tomiyama, H.4
Funayama, M.5
-
18
-
-
84866058216
-
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
-
Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, et al: C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69: 1154-1158, 2012
-
(2012)
Arch Neurol
, vol.69
, pp. 1154-1158
-
-
Ishiura, H.1
Takahashi, Y.2
Mitsui, J.3
Yoshida, S.4
Kihira, T.5
-
19
-
-
80051606112
-
Exorne sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
-
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, et al: Exorne sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 89: 320-327, 2011
-
(2011)
Am J Hum Genet
, vol.89
, pp. 320-327
-
-
Doi, H.1
Yoshida, K.2
Yasuda, T.3
Fukuda, M.4
Fukuda, Y.5
-
20
-
-
84859251280
-
Genetics of neuromuscular disorders
-
Laing NG: Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci 49: 33-48, 2012
-
(2012)
Crit Rev Clin Lab Sci
, vol.49
, pp. 33-48
-
-
Laing, N.G.1
-
21
-
-
77950439516
-
Massively parallel sequencing of ataxia genes after array-based enrichment
-
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, et al: Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 31: 494-499, 2010
-
(2010)
Hum Mutat
, vol.31
, pp. 494-499
-
-
Hoischen, A.1
Gilissen, C.2
Arts, P.3
Wieskamp, N.4
Van Der Vliet, W.5
-
22
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, et al: Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 107: 12629-12633, 2010
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
-
23
-
-
79951809636
-
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
-
Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE: Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet 48: 145-151, 2011
-
(2011)
J Med Genet
, vol.48
, pp. 145-151
-
-
Simpson, D.A.1
Clark, G.R.2
Alexander, S.3
Silvestri, G.4
Willoughby, C.E.5
-
24
-
-
58149347486
-
Genome-wide association studies: Potential next steps on a genetic journey
-
McCarthy MI, Hirschhorn JN: Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet 17: R156-R165, 2008
-
(2008)
Hum Mol Genet
, vol.17
-
-
McCarthy, M.I.1
Hirschhorn, J.N.2
-
25
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, et al: A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861, 2007
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
-
26
-
-
84862909349
-
Five years of GWAS discovery
-
Visscher PM, Brown MA, McCarthy MI, Yang J: Five years of GWAS discovery. Am J Hum Genet 90: 7-24, 2012
-
(2012)
Am J Hum Genet
, vol.90
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
27
-
-
33847622526
-
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
-
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, et al: 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
-
(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
-
28
-
-
34548083742
-
Whole-genome analysis of sporadic amyotrophic lateral sclerosis
-
Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, et al: Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 357: 775-788, 2007
-
(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
-
29
-
-
34548646702
-
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study
-
van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, et al: ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol 6: 869-877, 2007
-
(2007)
Lancet Neurol
, 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
-
30
-
-
37549062995
-
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
-
van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, et al: Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 40: 29-31, 2008
-
(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
-
31
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, et al: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41: 1083-1087, 2009
-
(2009)
Nat Genet
, vol.41
, pp. 1083-1087
-
-
Van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
Blauw, H.M.4
Van Vught, P.W.5
-
32
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
-
Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, et al: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 9: 978-985, 2010
-
(2010)
Lancet Neurol
, vol.9
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
Scholz, S.W.4
Lai, S.L.5
-
33
-
-
77956877621
-
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
-
Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, et al: Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 9: 986-994, 2010
-
(2010)
Lancet Neurol
, vol.9
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
Weale, M.E.4
Smith, B.5
-
34
-
-
58349115384
-
Screening for replication of genome-wide SNP associations in sporadic ALS
-
Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O: Screening for replication of genome-wide SNP associations in sporadic ALS. Eur J Hum Genet 17: 213-218, 2009
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 213-218
-
-
Cronin, S.1
Tomik, B.2
Bradley, D.G.3
Slowik, A.4
Hardiman, O.5
-
35
-
-
79952901096
-
No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort
-
Fernandez-Santiago R, Sharma M, Berg D, Illig T, Anneser J, et al: No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. Neurobiol Aging 32: 551 e551-e554, 2011
-
(2011)
Neurobiol Aging
, vol.32
-
-
Fernandez-Santiago, R.1
Sharma, M.2
Berg, D.3
Illig, T.4
Anneser, J.5
-
36
-
-
80052253329
-
A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese
-
Iida A, Takahashi A, Kubo M, Saito S, Hosono N, et al: A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet 20: 3684-3692, 2011
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3684-3692
-
-
Iida, A.1
Takahashi, A.2
Kubo, M.3
Saito, S.4
Hosono, N.5
-
37
-
-
3543143101
-
Functional proteomics mapping of a human signaling pathway
-
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, et al: Functional proteomics mapping of a human signaling pathway. Genome Res 14: 1324-1332, 2004
-
(2004)
Genome Res
, vol.14
, pp. 1324-1332
-
-
Colland, F.1
Jacq, X.2
Trouplin, V.3
Mougin, C.4
Groizeleau, C.5
-
38
-
-
58149215509
-
Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis
-
Atsuta N, Watanabe H, Ito M, Tanaka F, Tamakoshi A, et al: Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis. J Neurol Sci 276: 163-169, 2009
-
(2009)
J Neurol Sci
, vol.276
, pp. 163-169
-
-
Atsuta, N.1
Watanabe, H.2
Ito, M.3
Tanaka, F.4
Tamakoshi, A.5
-
39
-
-
33750396937
-
Amyotrophic late-ral sclerosis: Early predictors of prolonged survival
-
Czaplinski A, Yen AA, Appel SH: Amyotrophic late-ral sclerosis: early predictors of prolonged survival. J Neurol 253: 1428-1436, 2006
-
(2006)
J Neurol
, vol.253
, pp. 1428-1436
-
-
Czaplinski, A.1
Yen, A.A.2
Appel, S.H.3
-
40
-
-
77949314446
-
Motor neuron disease: The bare essentials
-
Talbot K: Motor neuron disease: the bare essentials. Pract Neurol 9: 303-309, 2009
-
(2009)
Pract Neurol
, vol.9
, pp. 303-309
-
-
Talbot, K.1
-
41
-
-
0037432266
-
Prognosis in amyotrophic lateral sclerosis: A population-based study
-
del Aguila MA, Longstreth WT Jr, McGuire V, Koepsell TD, van Belle G: Prognosis in amyotrophic lateral sclerosis: a population-based study. Neurology 60: 813-819, 2003
-
(2003)
Neurology
, vol.60
, pp. 813-819
-
-
Del Aguila, M.A.1
Longstreth Jr., W.T.2
McGuire, V.3
Koepsell, T.D.4
Van Belle, G.5
-
42
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
-
Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, et al: Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 11: 232-240, 2012
-
(2012)
Lancet Neurol
, vol.11
, pp. 232-240
-
-
Byrne, S.1
Elamin, M.2
Bede, P.3
Shatunov, A.4
Walsh, C.5
-
43
-
-
84870881192
-
ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis
-
Tetsuka S, Morita M, Iida A, Uehara R, Ikegawa S, et al: ZNF512B gene is a prognostic factor in patients with amyotrophic lateral sclerosis. J Neurol Sci 324: 163-166, 2013
-
(2013)
J Neurol Sci
, vol.324
, pp. 163-166
-
-
Tetsuka, S.1
Morita, M.2
Iida, A.3
Uehara, R.4
Ikegawa, S.5
-
44
-
-
84868096807
-
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: A population-based study
-
Chio A, Mora G, Restagno G, Brunetti M, Ossola I, et al: UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging 34: 357 e351-355, 2013
-
(2013)
Neurobiol Aging
, vol.34
-
-
Chio, A.1
Mora, G.2
Restagno, G.3
Brunetti, M.4
Ossola, I.5
-
45
-
-
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, et al: Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075, 2010
-
(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
-
46
-
-
80051566617
-
Ataxin-2 intermediate-length polyglutamine: A possible risk factor for Chinese patients with amyotrophic lateral sclerosis
-
Chen Y, Huang R, Yang Y, Chen K, Song W, et al: Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 32:1925 e1921-1925, 2011
-
(2011)
Neurobiol Aging
, vol.32
-
-
Chen, Y.1
Huang, R.2
Yang, Y.3
Chen, K.4
Song, W.5
-
47
-
-
80054874200
-
ATXN-2 CAG repeat expansions are interrupted in ALS patients
-
Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, et al: ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 130: 575-580, 2011
-
(2011)
Hum Genet
, vol.130
, pp. 575-580
-
-
Corrado, L.1
Mazzini, L.2
Oggioni, G.D.3
Luciano, B.4
Godi, M.5
-
48
-
-
79958746230
-
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
-
Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, et al: Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 68: 739-742, 2011
-
(2011)
Arch Neurol
, vol.68
, pp. 739-742
-
-
Daoud, H.1
Belzil, V.2
Martins, S.3
Sabbagh, M.4
Provencher, P.5
-
49
-
-
79953176451
-
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
-
Lee T, Li YR, Ingre C, Weber M, Grehl T, et al: Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 20: 1697-1700, 2011
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1697-1700
-
-
Lee, T.1
Li, Y.R.2
Ingre, C.3
Weber, M.4
Grehl, T.5
-
50
-
-
79960811611
-
Ataxin-2 repeat-length variation and neurodegeneration
-
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, et al: Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 20: 3207-3212, 2011
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3207-3212
-
-
Ross, O.A.1
Rutherford, N.J.2
Baker, M.3
Soto-Ortolaza, A.I.4
Carrasquillo, M.M.5
-
51
-
-
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, et al: Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76: 2066-2072, 2011
-
(2011)
Neurology
, vol.76
, pp. 2066-2072
-
-
Van Damme, P.1
Veldink, J.H.2
Van Blitterswijk, M.3
Corveleyn, A.4
Van Vught, P.W.5
-
52
-
-
84865176096
-
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population
-
Lahut S, Omur O, Uyan O, Agim ZS, Ozoguz A, et al: ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PLoS One 7: e42956, 2012
-
(2012)
PLoS One
, vol.7
-
-
Lahut, S.1
Omur, O.2
Uyan, O.3
Agim, Z.S.4
Ozoguz, A.5
-
53
-
-
26444552945
-
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways
-
Raiser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, et al: Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Hum Mol Genet 14: 2893-2909, 2005
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2893-2909
-
-
Raiser, M.1
Nonhoff, U.2
Albrecht, M.3
Lengauer, T.4
Wanker, E.E.5
-
54
-
-
49549111127
-
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking
-
Nonis D, Schmidt MH, van de Loo S, Eich F, Dikic I, et al: Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal 20: 1725-1739, 2008
-
(2008)
Cell Signal
, vol.20
, pp. 1725-1739
-
-
Nonis, D.1
Schmidt, M.H.2
Van De Loo, S.3
Eich, F.4
Dikic, I.5
-
55
-
-
81955162888
-
The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
-
Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, et al: The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 45: 356-361, 2012
-
(2012)
Neurobiol Dis
, vol.45
, pp. 356-361
-
-
Gispert, S.1
Kurz, A.2
Waibel, S.3
Bauer, P.4
Liepelt, I.5
-
56
-
-
79959652226
-
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
-
Lee T, Li YR, Chesi A, Hart MP, Ramos D, et al: Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 76: 2062-2065, 2011
-
(2011)
Neurology
, vol.76
, pp. 2062-2065
-
-
Lee, T.1
Li, Y.R.2
Chesi, A.3
Hart, M.P.4
Ramos, D.5
-
58
-
-
80054874200
-
ATXN-2 CAG repeat expansions are interrupted in ALS patients
-
Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, et al: ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 130: 575-580, 2011
-
(2011)
Hum Genet
, vol.130
, pp. 575-580
-
-
Corrado, L.1
Mazzini, L.2
Oggioni, G.D.3
Luciano, B.4
Godi, M.5
-
59
-
-
13544270270
-
CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
-
Sobczak K, Krzyzosiak WJ: CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J Biol Chem 280: 3898-3910, 2005
-
(2005)
J Biol Chem
, vol.280
, pp. 3898-3910
-
-
Sobczak, K.1
Krzyzosiak, W.J.2
-
60
-
-
26444552945
-
Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways
-
Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, et al: Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Hum Mol Genet 14: 2893-2909, 2005
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2893-2909
-
-
Ralser, M.1
Nonhoff, U.2
Albrecht, M.3
Lengauer, T.4
Wanker, E.E.5
-
61
-
-
33747884761
-
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes
-
Satterfield TF, Pallanck LJ: Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 15: 2523-2532, 2006
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2523-2532
-
-
Satterfield, T.F.1
Pallanck, L.J.2
-
62
-
-
34247229733
-
Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules
-
Nonhoff U, Raiser M, Welzel F, Piccini I, Balzereit D, et al: Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol Biol Cell 18: 1385-1396, 2007
-
(2007)
Mol Biol Cell
, vol.18
, pp. 1385-1396
-
-
Nonhoff, U.1
Raiser, M.2
Welzel, F.3
Piccini, I.4
Balzereit, D.5
-
63
-
-
49549111127
-
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking
-
Nonis D, Schmidt MH, van de Loo S, Eich F, Dikic I, et al: Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal 20: 1725-1739, 2008
-
(2008)
Cell Signal
, vol.20
, pp. 1725-1739
-
-
Nonis, D.1
Schmidt, M.H.2
Van De Loo, S.3
Eich, F.4
Dikic, I.5
-
64
-
-
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, et al: Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature. J Neurol 256: 1926-1928, 2009
-
(2009)
J Neurol
, vol.256
, pp. 1926-1928
-
-
Nanetti, L.1
Fancellu, R.2
Tomasello, C.3
Gellera, C.4
Pareyson, D.5
-
65
-
-
4444314941
-
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
-
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, et al: Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 19: 622-629, 2004
-
(2004)
Mov Disord
, vol.19
, pp. 622-629
-
-
Furtado, S.1
Payami, H.2
Lockhart, P.J.3
Hanson, M.4
Nutt, J.G.5
-
66
-
-
0034711720
-
A kindred with Parkinson's disease not showing genetic linkage to established loci
-
Gwinn-Hardy KA, Crook R, Lincoln S, Adler CH, Caviness JN, et al: A kindred with Parkinson's disease not showing genetic linkage to established loci. Neurology 54: 504-507, 2000
-
(2000)
Neurology
, vol.54
, pp. 504-507
-
-
Gwinn-Hardy, K.A.1
Crook, R.2
Lincoln, S.3
Adler, C.H.4
Caviness, J.N.5
-
67
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 106: 9362-9367, 2009
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
-
68
-
-
42649123990
-
Sizing up human height variation
-
Visscher PM: Sizing up human height variation. Nat Genet 40: 489-490, 2008
-
(2008)
Nat Genet
, vol.40
, pp. 489-490
-
-
Visscher, P.M.1
-
69
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al: Finding the missing heritability of complex diseases. Nature 461: 747-753, 2009
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
-
70
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nails MA, Aasly JO, Aharon-Peretz J, Annesi G, et al: Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361: 1651-1661, 2009
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nails, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
-
71
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, et al: Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 66: 571576, 2009
-
(2009)
Arch Neurol
, vol.66
, pp. 571576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
Ashida, R.4
Takahashi, Y.5
-
72
-
-
84875848181
-
-
Japanese source
-
-
-
-
73
-
-
79955787186
-
-
Brain Nerve 63: 491-496, 2011
-
(2011)
Brain Nerve
, vol.63
, pp. 491-496
-
-
|