-
1
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
Boxer A.L., Mackenzie I.R., Boeve B.F., Baker M., Seeley W.W., Crook R., Feldman H., Hsiung G.Y., Rutherford N., Laluz V., et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J. Neurol. Neurosurg. Psychiatry 2011, 82:196-203.
-
(2011)
J. Neurol. Neurosurg. Psychiatry
, vol.82
, pp. 196-203
-
-
Boxer, A.L.1
Mackenzie, I.R.2
Boeve, B.F.3
Baker, M.4
Seeley, W.W.5
Crook, R.6
Feldman, H.7
Hsiung, G.Y.8
Rutherford, N.9
Laluz, V.10
-
2
-
-
0037066430
-
A human genome diversity cell line panel
-
Cann H.M., de Toma C., Cazes L., Legrand M.F., Morel V., Piouffre L., Bodmer J., Bodmer W.F., Bonne-Tamir B., Cambon-Thomsen A., et al. A human genome diversity cell line panel. Science 2002, 296:261-262.
-
(2002)
Science
, vol.296
, pp. 261-262
-
-
Cann, H.M.1
de Toma, C.2
Cazes, L.3
Legrand, M.F.4
Morel, V.5
Piouffre, L.6
Bodmer, J.7
Bodmer, W.F.8
Bonne-Tamir, B.9
Cambon-Thomsen, A.10
-
3
-
-
40349102131
-
Prevalence of SOD1 mutations in the Italian ALS population
-
Chiò A., Traynor B.J., Lombardo F., Fimognari M., Calvo A., Ghiglione P., Mutani R., Restagno G. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008, 70:533-537.
-
(2008)
Neurology
, vol.70
, pp. 533-537
-
-
Chiò, A.1
Traynor, B.J.2
Lombardo, F.3
Fimognari, M.4
Calvo, A.5
Ghiglione, P.6
Mutani, R.7
Restagno, G.8
-
4
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
in press. Published online September 21, 2011
-
DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72. in press. Published online September 21, 2011. 10.1016/j.neuron.2011.09.011.
-
(2011)
Neuron
, vol.72
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
-
5
-
-
0030034928
-
Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization
-
Haaf T., Sirugo G., Kidd K.K., Ward D.C. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Nat. Genet. 1996, 12:183-185.
-
(1996)
Nat. Genet.
, vol.12
, pp. 183-185
-
-
Haaf, T.1
Sirugo, G.2
Kidd, K.K.3
Ward, D.C.4
-
6
-
-
33846604242
-
How common are the " common" neurologic disorders?
-
Hirtz D., Thurman D.J., Gwinn-Hardy K., Mohamed M., Chaudhuri A.R., Zalutsky R. How common are the " common" neurologic disorders?. Neurology 2007, 68:326-337.
-
(2007)
Neurology
, vol.68
, pp. 326-337
-
-
Hirtz, D.1
Thurman, D.J.2
Gwinn-Hardy, K.3
Mohamed, M.4
Chaudhuri, A.R.5
Zalutsky, R.6
-
7
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
ITALSGEN Consortium
-
Johnson J.O., Mandrioli J., Benatar M., Abramzon Y., Van Deerlin V.M., Trojanowski J.Q., Gibbs J.R., Brunetti M., Gronka S., Wuu J., et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864. ITALSGEN Consortium.
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
Mandrioli, J.2
Benatar, M.3
Abramzon, Y.4
Van Deerlin, V.M.5
Trojanowski, J.Q.6
Gibbs, J.R.7
Brunetti, M.8
Gronka, S.9
Wuu, J.10
-
8
-
-
80051549115
-
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
-
Kobayashi H., Abe K., Matsuura T., Ikeda Y., Hitomi T., Akechi Y., Habu T., Liu W., Okuda H., Koizumi A. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 2011, 89:121-130.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 121-130
-
-
Kobayashi, H.1
Abe, K.2
Matsuura, T.3
Ikeda, Y.4
Hitomi, T.5
Akechi, Y.6
Habu, T.7
Liu, W.8
Okuda, H.9
Koizumi, A.10
-
9
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski T.J., Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., 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, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
Tamrazian, E.4
Vanderburg, C.R.5
Russ, C.6
Davis, A.7
Gilchrist, J.8
Kasarskis, E.J.9
Munsat, T.10
-
10
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
-
Laaksovirta H., Peuralinna T., Schymick J.C., Scholz S.W., Lai S.L., Myllykangas L., Sulkava R., Jansson L., Hernandez D.G., Gibbs J.R., et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010, 9:978-985.
-
(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
Myllykangas, L.6
Sulkava, R.7
Jansson, L.8
Hernandez, D.G.9
Gibbs, J.R.10
-
11
-
-
77953890823
-
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne C., Polymenidou M., Cleveland D.W. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 2010, 19(R1):R46-R64.
-
(2010)
Hum. Mol. Genet.
, vol.19
, Issue.R1
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
12
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
14
-
-
67650741437
-
Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders
-
Lillo P., Hodges J.R. Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J. Clin. Neurosci. 2009, 16:1131-1135.
-
(2009)
J. Clin. Neurosci.
, vol.16
, pp. 1131-1135
-
-
Lillo, P.1
Hodges, J.R.2
-
15
-
-
0032032013
-
Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis
-
Lin C.L., Bristol L.A., Jin L., Dykes-Hoberg M., Crawford T., Clawson L., Rothstein J.D. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998, 20:589-602.
-
(1998)
Neuron
, vol.20
, pp. 589-602
-
-
Lin, C.L.1
Bristol, L.A.2
Jin, L.3
Dykes-Hoberg, M.4
Crawford, T.5
Clawson, L.6
Rothstein, J.D.7
-
16
-
-
77956850818
-
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
-
Mackenzie I.R., 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
-
17
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H., Morino H., Ito H., Izumi Y., Kato H., Watanabe Y., Kinoshita Y., Kamada M., Nodera H., Suzuki H., et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010, 465:223-226.
-
(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
Kinoshita, Y.7
Kamada, M.8
Nodera, H.9
Suzuki, H.10
-
18
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010, 20:1297-1303.
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
19
-
-
81355146748
-
The chromosome 9 ALS and FTD locus is probably derived from a single founder
-
in press. Published online September 16, 2011
-
Mok K., Traynor B., Schymick J., Tienari P., Laaksovirta H., Peuralinna T., Myllykangas L., Chio A., Shatunov A., Boeve B., et al. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol. Aging 2011, in press. Published online September 16, 2011. 10.1016/j.neurobiolaging.2011.08.005.
-
(2011)
Neurobiol. Aging
-
-
Mok, K.1
Traynor, B.2
Schymick, J.3
Tienari, P.4
Laaksovirta, H.5
Peuralinna, T.6
Myllykangas, L.7
Chio, A.8
Shatunov, A.9
Boeve, B.10
-
20
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
Morita M., Al-Chalabi A., Andersen P.M., Hosler B., Sapp P., Englund E., Mitchell J.E., Habgood J.J., de Belleroche J., Xi J., et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66:839-844.
-
(2006)
Neurology
, vol.66
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
Hosler, B.4
Sapp, P.5
Englund, E.6
Mitchell, J.E.7
Habgood, J.J.8
de Belleroche, J.9
Xi, J.10
-
21
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
-
22
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
Pearson J.P., Williams N.M., Majounie E., Waite A., Stott J., Newsway V., Murray A., Hernandez D., Guerreiro R., Singleton A.B., et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J. Neurol. 2011, 258:647-655.
-
(2011)
J. Neurol.
, vol.258
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
Waite, A.4
Stott, J.5
Newsway, V.6
Murray, A.7
Hernandez, D.8
Guerreiro, R.9
Singleton, A.B.10
-
23
-
-
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.J., Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 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.J.10
Sham, P.C.11
-
24
-
-
0027401203
-
Mutations in Cu/Zn superoxide 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. 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
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
-
26
-
-
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 M.E., Smith B., Vance C., Johnson L., Veldink J.H., van Es M.A., van den Berg L.H., et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010, 9:986-994.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
Weale, M.E.4
Smith, B.5
Vance, C.6
Johnson, L.7
Veldink, J.H.8
van Es, M.A.9
van den Berg, L.H.10
-
27
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., 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
Hu, X.4
Vance, C.5
Rogelj, B.6
Ackerley, S.7
Durnall, J.C.8
Williams, K.L.9
Buratti, E.10
-
28
-
-
80053572217
-
Quality control parameters on a large dataset of regionally-dissected human control brains for whole genome expression studies
-
Published online August 17, 2011
-
Trabzuni D., Ryten M., Walker R., Smith C., Imran S., Ramasamy A., Weale M.E., Hardy J. Quality control parameters on a large dataset of regionally-dissected human control brains for whole genome expression studies. J. Neurochem. 2011, Published online August 17, 2011. 10.1111/j.1471-4159.2011.07432.x.
-
(2011)
J. Neurochem.
-
-
Trabzuni, D.1
Ryten, M.2
Walker, R.3
Smith, C.4
Imran, S.5
Ramasamy, A.6
Weale, M.E.7
Hardy, J.8
-
29
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin V.M., Sleiman P.M., Martinez-Lage M., Chen-Plotkin A., Wang L.S., Graff-Radford N.R., Dickson D.W., Rademakers R., Boeve B.F., Grossman M., et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 2010, 42:234-239.
-
(2010)
Nat. Genet.
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
Chen-Plotkin, A.4
Wang, L.S.5
Graff-Radford, N.R.6
Dickson, D.W.7
Rademakers, R.8
Boeve, B.F.9
Grossman, M.10
-
30
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es M.A., Veldink J.H., Saris C.G., Blauw H.M., van Vught P.W., Birve A., Lemmens R., Schelhaas H.J., Groen E.J., Huisman M.H., et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 2009, 41:1083-1087.
-
(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
Birve, A.6
Lemmens, R.7
Schelhaas, H.J.8
Groen, E.J.9
Huisman, M.H.10
-
31
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
-
Vance C., Al-Chalabi A., Ruddy D., Smith B.N., Hu X., Sreedharan J., Siddique T., Schelhaas H.J., Kusters B., Troost D., et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006, 129:868-876.
-
(2006)
Brain
, vol.129
, pp. 868-876
-
-
Vance, C.1
Al-Chalabi, A.2
Ruddy, D.3
Smith, B.N.4
Hu, X.5
Sreedharan, J.6
Siddique, T.7
Schelhaas, H.J.8
Kusters, B.9
Troost, D.10
-
32
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance C., Rogelj B., Hortobágyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobágyi, T.3
De Vos, K.J.4
Nishimura, A.L.5
Sreedharan, J.6
Hu, X.7
Smith, B.8
Ruddy, D.9
Wright, P.10
-
33
-
-
0030462492
-
A general method for the detection of large CAG repeat expansions by fluorescent PCR
-
Warner J.P., Barron L.H., Goudie D., Kelly K., Dow D., Fitzpatrick D.R., Brock D.J. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J. Med. Genet. 1996, 33:1022-1026.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 1022-1026
-
-
Warner, J.P.1
Barron, L.H.2
Goudie, D.3
Kelly, K.4
Dow, D.5
Fitzpatrick, D.R.6
Brock, D.J.7
-
34
-
-
80052716635
-
Cellular toxicity of expanded RNA repeats: focus on RNA foci
-
Wojciechowska M., Krzyzosiak W.J. Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum. Mol. Genet. 2011, 20:3811-3821.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3811-3821
-
-
Wojciechowska, M.1
Krzyzosiak, W.J.2
|