-
1
-
-
84865843186
-
The genetics and neuropathology of amyotrophic lateral sclerosis
-
Al-Chalabi A., Jones A., Troakes C., King A., Al-Sarraj S., van den Berg L.H. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012, 124:339-352. 10.1007/s00401-012-1022-4.
-
(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
van den Berg, L.H.6
-
2
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
-
Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurol. 2011, 7:603-615. 10.1038/nrneurol.2011.150.
-
(2011)
Nat. Rev. Neurol.
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
3
-
-
27944504351
-
P62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death
-
Bjorkoy G., Lamark T., Brech A., Outzen H., Perander M., Overvatn A., Stenmark H., Johansen T. p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J.Cell. Biol. 2005, 171:603-614. 10.1083/jcb.200507002.
-
(2005)
J.Cell. Biol.
, vol.171
, pp. 603-614
-
-
Bjorkoy, G.1
Lamark, T.2
Brech, A.3
Outzen, H.4
Perander, M.5
Overvatn, A.6
Stenmark, H.7
Johansen, T.8
-
4
-
-
0034574407
-
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord. 2000, 1:293-299.
-
(2000)
Amyotroph. Lateral Scler. Other Motor Neuron Disord.
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
5
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
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., Kouri N., Wojtas A., Sengdy P., Hsiung G.Y., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256. 10.1016/j.neuron.2011.09.011.
-
(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
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
6
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Fecto F., Yan J., Vemula S.P., Liu E., Yang Y., Chen W., Zheng J.G., Shi Y., Siddique N., Arrat H., Donkervoort S., Ajroud-Driss S., Sufit R.L., Heller S.L., Deng H.X., Siddique T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 2011, 68:1440-1446. 10.1001/archneurol.2011.250.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 1440-1446
-
-
Fecto, F.1
Yan, J.2
Vemula, S.P.3
Liu, E.4
Yang, Y.5
Chen, W.6
Zheng, J.G.7
Shi, Y.8
Siddique, N.9
Arrat, H.10
Donkervoort, S.11
Ajroud-Driss, S.12
Sufit, R.L.13
Heller, S.L.14
Deng, H.X.15
Siddique, T.16
-
7
-
-
84873653136
-
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
-
Hirano M., Nakamura Y., Saigoh K., Sakamoto H., Ueno S., Isono C., Miyamoto K., Akamatsu M., Mitsui Y., Kusunoki S. Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology 2013, 80(5):458-463. 10.1212/WNL.0b013e31827f0fe5.
-
(2013)
Neurology
, vol.80
, Issue.5
, pp. 458-463
-
-
Hirano, M.1
Nakamura, Y.2
Saigoh, K.3
Sakamoto, H.4
Ueno, S.5
Isono, C.6
Miyamoto, K.7
Akamatsu, M.8
Mitsui, Y.9
Kusunoki, S.10
-
8
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
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., Ding J., McCluskey L., Martinez-Lage M., Falcone D., Hernandez D.G., Arepalli S., Chong S., Schymick J.C., Rothstein J., Landi F., Wang Y.D., Calvo A., Mora G., Sabatelli M., Monsurro M.R., Battistini S., Salvi F., Spataro R., Sola P., Borghero G., Galassi G., Scholz S.W., Taylor J.P., Restagno G., Chio A., Traynor B.J. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864. 10.1016/j.neuron.2010.11.036.
-
(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
Ding, J.11
McCluskey, L.12
Martinez-Lage, M.13
Falcone, D.14
Hernandez, D.G.15
Arepalli, S.16
Chong, S.17
Schymick, J.C.18
Rothstein, J.19
Landi, F.20
Wang, Y.D.21
Calvo, A.22
Mora, G.23
Sabatelli, M.24
Monsurro, M.R.25
Battistini, S.26
Salvi, F.27
Spataro, R.28
Sola, P.29
Borghero, G.30
Galassi, G.31
Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chio, A.35
Traynor, B.J.36
more..
-
9
-
-
42649120983
-
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
-
Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Vande Velde C., Bouchard J.P., Lacomblez L., Pochigaeva K., Salachas F., Pradat P.F., Camu W., Meininger V., Dupre N., Rouleau G.A. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 2008, 40:572-574. 10.1038/ng.132.
-
(2008)
Nat. Genet.
, vol.40
, pp. 572-574
-
-
Kabashi, E.1
Valdmanis, P.N.2
Dion, P.3
Spiegelman, D.4
McConkey, B.J.5
Vande Velde, C.6
Bouchard, J.P.7
Lacomblez, L.8
Pochigaeva, K.9
Salachas, F.10
Pradat, P.F.11
Camu, W.12
Meininger, V.13
Dupre, N.14
Rouleau, G.A.15
-
10
-
-
84896545244
-
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
-
Kwok C.T., Morris A., de Belleroche J.S. Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. Eur. J. Hum. Genet. 2013, 10.1038/ejhg.2013.184.
-
(2013)
Eur. J. Hum. Genet.
-
-
Kwok, C.T.1
Morris, A.2
de Belleroche, J.S.3
-
11
-
-
0036094026
-
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone
-
Laurin N., Brown J.P., Morissette J., Raymond V. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am. J. Hum. Genet. 2002, 70:1582-1588. 10.1086/340731.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1582-1588
-
-
Laurin, N.1
Brown, J.P.2
Morissette, J.3
Raymond, V.4
-
12
-
-
34250209501
-
Amyotrophic lateral sclerosis
-
Mitchell J.D., Borasio G.D. Amyotrophic lateral sclerosis. Lancet 2007, 369:2031-2041. 10.1016/s0140-6736(07)60944-1.
-
(2007)
Lancet
, vol.369
, pp. 2031-2041
-
-
Mitchell, J.D.1
Borasio, G.D.2
-
13
-
-
34247861003
-
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone
-
Morissette J., Laurin N., Brown J.P. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J.Bone Miner. Res. 2006, 21:P38-P44. 10.1359/jbmr.06s207.
-
(2006)
J.Bone Miner. Res.
, vol.21
-
-
Morissette, J.1
Laurin, N.2
Brown, J.P.3
-
14
-
-
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., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., Van den Bergh R., Hung W.-Y., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella J.S., Horvitz H.R., Brown R.H. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62. 10.1038/362059a0.
-
(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
Rahmani, Z.11
Krizus, A.12
McKenna-Yasek, D.13
Cayabyab, A.14
Gaston, S.M.15
Berger, R.16
Tanzi, R.E.17
Halperin, J.J.18
Herzfeldt, B.19
Van den Bergh, R.20
Hung, W.-Y.21
Bird, T.22
Deng, G.23
Mulder, D.W.24
Smyth, C.25
Laing, N.G.26
Soriano, E.27
Pericak-Vance, M.A.28
Haines, J.29
Rouleau, G.A.30
Gusella, J.S.31
Horvitz, H.R.32
Brown, R.H.33
more..
-
15
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Rubino E., Rainero I., Chio A., Rogaeva E., Galimberti D., Fenoglio P., Grinberg Y., Isaia G., Calvo A., Gentile S., Bruni A.C., St George-Hyslop P.H., Scarpini E., Gallone S., Pinessi L. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012, 79:1556-1562. 10.1212/WNL.0b013e31826e25df.
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chio, A.3
Rogaeva, E.4
Galimberti, D.5
Fenoglio, P.6
Grinberg, Y.7
Isaia, G.8
Calvo, A.9
Gentile, S.10
Bruni, A.C.11
St George-Hyslop, P.H.12
Scarpini, E.13
Gallone, S.14
Pinessi, L.15
-
16
-
-
84883464772
-
Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene
-
Shimizu H., Toyoshima Y., Shiga A., Yokoseki A., Arakawa K., Sekine Y., Shimohata T., Ikeuchi T., Nishizawa M., Kakita A., Onodera O., Takahashi H. Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene. Acta Neuropathol. 2013, 126:453-459. 10.1007/s00401-013-1150-5.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 453-459
-
-
Shimizu, H.1
Toyoshima, Y.2
Shiga, A.3
Yokoseki, A.4
Arakawa, K.5
Sekine, Y.6
Shimohata, T.7
Ikeuchi, T.8
Nishizawa, M.9
Kakita, A.10
Onodera, O.11
Takahashi, H.12
-
17
-
-
84876533723
-
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
-
Teyssou E., Takeda T., Lebon V., Boillee S., Doukoure B., Bataillon G., Sazdovitch V., Cazeneuve C., Meininger V., LeGuern E., Salachas F., Seilhean D., Millecamps S. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathol. 2013, 125:511-522. 10.1007/s00401-013-1090-0.
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 511-522
-
-
Teyssou, E.1
Takeda, T.2
Lebon, V.3
Boillee, S.4
Doukoure, B.5
Bataillon, G.6
Sazdovitch, V.7
Cazeneuve, C.8
Meininger, V.9
LeGuern, E.10
Salachas, F.11
Seilhean, D.12
Millecamps, S.13
|