-
1
-
-
84861843696
-
A mechanistic overview of translation initiation in eukaryotes
-
10.1038/nsmb.2303 1:CAS:528:DC%2BC38XotVWjtbk%3D 22664984 10.1038/nsmb.2303
-
Aitken CE, Lorsch JR (2012) A mechanistic overview of translation initiation in eukaryotes. Nat Struct Mol Biol 19(6):568-576. doi: 10.1038/nsmb.2303
-
(2012)
Nat Struct Mol Biol
, vol.19
, Issue.6
, pp. 568-576
-
-
Aitken, C.E.1
Lorsch, J.R.2
-
2
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
10.1093/hmg/ddm346 1:CAS:528:DC%2BD1cXitVemsr4%3D 18045775 10.1093/hmg/ddm346
-
Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M (2008) The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17(5):735-746. doi: 10.1093/hmg/ddm346
-
(2008)
Hum Mol Genet
, vol.17
, Issue.5
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
Varshney, D.4
Lymperi, S.5
Sandi, C.6
Trabzuni, D.7
Pook, M.8
-
3
-
-
82355180826
-
P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
-
10.1007/s00401-011-0911-2 1:CAS:528:DC%2BC3MXhsFCms77F 22101323 10.1007/s00401-011-0911-2
-
Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122(6):691-702. doi: 10.1007/s00401-011-0911-2
-
(2011)
Acta Neuropathol
, vol.122
, Issue.6
, pp. 691-702
-
-
Al-Sarraj, S.1
King, A.2
Troakes, C.3
Smith, B.4
Maekawa, S.5
Bodi, I.6
Rogelj, B.7
Al-Chalabi, A.8
Hortobagyi, T.9
Shaw, C.E.10
-
4
-
-
84883465132
-
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
-
10.1007/s00401-013-1149-y 1:CAS:528:DC%2BC3sXhtlyit7rE 3753484 23836290 10.1007/s00401-013-1149-y
-
Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126(3):385-399. doi: 10.1007/s00401-013-1149-y
-
(2013)
Acta Neuropathol
, vol.126
, Issue.3
, pp. 385-399
-
-
Almeida, S.1
Gascon, E.2
Tran, H.3
Chou, H.J.4
Gendron, T.F.5
Degroot, S.6
Tapper, A.R.7
Sellier, C.8
Charlet-Berguerand, N.9
Karydas, A.10
Seeley, W.W.11
Boxer, A.L.12
Petrucelli, L.13
Miller, B.L.14
Gao, F.B.15
-
5
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
10.1016/j.neuron.2013.02.004 1:CAS:528:DC%2BC3sXisVGrtr0%3D 23415312 10.1016/j.neuron.2013.02.004
-
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77(4):639-646. doi: 10.1016/j.neuron.2013.02.004
-
(2013)
Neuron
, vol.77
, Issue.4
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
Van Blitterswijk, M.M.7
Jansen-West, K.8
Paul III, J.W.9
Rademakers, R.10
Boylan, K.B.11
Dickson, D.W.12
Petrucelli, L.13
-
6
-
-
0038744272
-
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
-
10.1086/375034 1:CAS:528:DC%2BD3sXjslagtbY%3D 1180267 12687498 10.1086/375034
-
Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72(5):1141-1153. doi: 10.1086/375034
-
(2003)
Am J Hum Genet
, vol.72
, Issue.5
, pp. 1141-1153
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
Birouk, N.4
Di Duca, M.5
Bouhouche, A.6
Benamou, S.7
Mrabet, A.8
Hammadouche, T.9
Chkili, T.10
Gouider, R.11
Ravazzolo, R.12
Brice, A.13
Laporte, J.14
Leguern, E.15
-
7
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
10.1038/nature05016 1:CAS:528:DC%2BD28XosVOgurc%3D 16862116 10.1038/nature05016
-
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442(7105):916-919. doi: 10.1038/nature05016
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
Cannon, A.11
Dwosh, E.12
Neary, D.13
Melquist, S.14
Richardson, A.15
Dickson, D.16
Berger, Z.17
Eriksen, J.18
Robinson, T.19
Zehr, C.20
Dickey, C.A.21
Crook, R.22
McGowan, E.23
Mann, D.24
Boeve, B.25
Feldman, H.26
Hutton, M.27
more..
-
8
-
-
77953887860
-
Partners in crime: Bidirectional transcription in unstable microsatellite disease
-
10.1093/hmg/ddq132 1:CAS:528:DC%2BC3cXmsVSrt7s%3D 20368264 10.1093/hmg/ddq132
-
Batra R, Charizanis K, Swanson MS (2010) Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet 19(R1):R77-R82. doi: 10.1093/hmg/ddq132
-
(2010)
Hum Mol Genet
, vol.19
, Issue.R1
-
-
Batra, R.1
Charizanis, K.2
Swanson, M.S.3
-
9
-
-
84892596606
-
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
-
10.1007/s00401-013-1199-1 1:CAS:528:DC%2BC3sXhs1yrt7jM 3830740 24166615 10.1007/s00401-013-1199-1
-
Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L (2013) Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol 126(6):895-905. doi: 10.1007/s00401-013-1199-1
-
(2013)
Acta Neuropathol
, vol.126
, Issue.6
, pp. 895-905
-
-
Belzil, V.V.1
Bauer, P.O.2
Prudencio, M.3
Gendron, T.F.4
Stetler, C.T.5
Yan, I.K.6
Pregent, L.7
Daughrity, L.8
Baker, M.C.9
Rademakers, R.10
Boylan, K.11
Patel, T.C.12
Dickson, D.W.13
Petrucelli, L.14
-
10
-
-
84884818309
-
RNA-mediated toxicity in neurodegenerative disease
-
10.1016/j.mcn.2012.12.006 23280309 10.1016/j.mcn.2012.12.006 1:CAS:528:DC%2BC3sXivVWnurw%3D
-
Belzil VV, Gendron TF, Petrucelli L (2012) RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci 56:406-419. doi: 10.1016/j.mcn.2012.12.006
-
(2012)
Mol Cell Neurosci
, vol.56
, pp. 406-419
-
-
Belzil, V.V.1
Gendron, T.F.2
Petrucelli, L.3
-
11
-
-
84877916769
-
The role of membrane-trafficking small GTPases in the regulation of autophagy
-
10.1242/jcs.123075 1:CAS:528:DC%2BC3sXpt1OrtL4%3D 23620509 10.1242/jcs.123075
-
Bento CF, Puri C, Moreau K, Rubinsztein DC (2013) The role of membrane-trafficking small GTPases in the regulation of autophagy. J Cell Sci 126(Pt 5):1059-1069. doi: 10.1242/jcs.123075
-
(2013)
J Cell Sci
, vol.126
, Issue.PART 5
, pp. 1059-1069
-
-
Bento, C.F.1
Puri, C.2
Moreau, K.3
Rubinsztein, D.C.4
-
12
-
-
84874250572
-
Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion
-
10.1007/s00401-012-1048-7 1:CAS:528:DC%2BC3sXhtlGnsb8%3D 3551994 23053135 10.1007/s00401-012-1048-7
-
Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW (2013) Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathol 125(2):289-302. doi: 10.1007/s00401-012-1048-7
-
(2013)
Acta Neuropathol
, vol.125
, Issue.2
, pp. 289-302
-
-
Bieniek, K.F.1
Murray, M.E.2
Rutherford, N.J.3
Castanedes-Casey, M.4
Dejesus-Hernandez, M.5
Liesinger, A.M.6
Baker, M.C.7
Boylan, K.B.8
Rademakers, R.9
Dickson, D.W.10
-
13
-
-
84863393788
-
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
-
10.1093/brain/aws004 22366793 10.1093/brain/aws004
-
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R (2012) Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135(Pt 3):765-783. doi: 10.1093/brain/aws004
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 765-783
-
-
Boeve, B.F.1
Boylan, K.B.2
Graff-Radford, N.R.3
Dejesus-Hernandez, M.4
Knopman, D.S.5
Pedraza, O.6
Vemuri, P.7
Jones, D.8
Lowe, V.9
Murray, M.E.10
Dickson, D.W.11
Josephs, K.A.12
Rush, B.K.13
Machulda, M.M.14
Fields, J.A.15
Ferman, T.J.16
Baker, M.17
Rutherford, N.J.18
Adamson, J.19
Wszolek, Z.K.20
Adeli, A.21
Savica, R.22
Boot, B.23
Kuntz, K.M.24
Gavrilova, R.25
Reeves, A.26
Whitwell, J.27
Kantarci, K.28
Jack, Jr.C.R.29
Parisi, J.E.30
Lucas, J.A.31
Petersen, R.C.32
Rademakers, R.33
more..
-
14
-
-
84862756869
-
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
-
10.1007/s00401-012-0970-z 3521561 22426854 10.1007/s00401-012-0970-z 1:CAS:528:DC%2BC38Xht1GmtrnL
-
Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ (2012) Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 123(6):825-839. doi: 10.1007/s00401-012-0970-z
-
(2012)
Acta Neuropathol
, vol.123
, Issue.6
, pp. 825-839
-
-
Brettschneider, J.1
Van Deerlin, V.M.2
Robinson, J.L.3
Kwong, L.4
Lee, E.B.5
Ali, Y.O.6
Safren, N.7
Monteiro, M.J.8
Toledo, J.B.9
Elman, L.10
McCluskey, L.11
Irwin, D.J.12
Grossman, M.13
Molina-Porcel, L.14
Lee, V.M.15
Trojanowski, J.Q.16
-
15
-
-
27844514227
-
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: An important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
-
10.1074/jbc.M505557200 1:CAS:528:DC%2BD2MXhtF2isrjE 16157593 10.1074/jbc.M505557200
-
Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE (2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280(45):37572-37584. doi: 10.1074/jbc.M505557200
-
(2005)
J Biol Chem
, vol.280
, Issue.45
, pp. 37572-37584
-
-
Buratti, E.1
Brindisi, A.2
Giombi, M.3
Tisminetzky, S.4
Ayala, Y.M.5
Baralle, F.E.6
-
16
-
-
78649796276
-
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma
-
10.1016/j.ajhg.2010.11.002 1:CAS:528:DC%2BC3cXhsFags7fJ 2997361 21087763 10.1016/j.ajhg.2010.11.002
-
Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R (2010) Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet 87(6):890-897. doi: 10.1016/j.ajhg.2010.11.002
-
(2010)
Am J Hum Genet
, vol.87
, Issue.6
, pp. 890-897
-
-
Carrasquillo, M.M.1
Nicholson, A.M.2
Finch, N.3
Gibbs, J.R.4
Baker, M.5
Rutherford, N.J.6
Hunter, T.A.7
Dejesus-Hernandez, M.8
Bisceglio, G.D.9
Mackenzie, I.R.10
Singleton, A.11
Cookson, M.R.12
Crook, J.E.13
Dillman, A.14
Hernandez, D.15
Petersen, R.C.16
Graff-Radford, N.R.17
Younkin, S.G.18
Rademakers, R.19
-
17
-
-
57349086192
-
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
-
10.1136/jmg.2008.058594 1:CAS:528:DC%2BD1MXhtVWkur8%3D 18697824 10.1136/jmg.2008.058594
-
Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S (2008) DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet 45(12):808-812. doi: 10.1136/jmg.2008.058594
-
(2008)
J Med Genet
, vol.45
, Issue.12
, pp. 808-812
-
-
Castaldo, I.1
Pinelli, M.2
Monticelli, A.3
Acquaviva, F.4
Giacchetti, M.5
Filla, A.6
Sacchetti, S.7
Keller, S.8
Avvedimento, V.E.9
Chiariotti, L.10
Cocozza, S.11
-
18
-
-
61449095749
-
Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci
-
10.1186/1471-2199-10-9 2647542 19203395 10.1186/1471-2199-10-9 1:CAS:528:DC%2BD1MXjtFSjuro%3D
-
Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ (2009) Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol 10:9. doi: 10.1186/1471-2199-10-9
-
(2009)
BMC Mol Biol
, vol.10
, pp. 9
-
-
Chen, I.C.1
Lin, H.Y.2
Lee, G.C.3
Kao, S.H.4
Chen, C.M.5
Wu, Y.R.6
Hsieh-Li, H.M.7
Su, M.T.8
Lee-Chen, G.J.9
-
19
-
-
83455243339
-
Autophagy dysregulation in amyotrophic lateral sclerosis
-
10.1111/j.1750-3639.2011.00546.x 1:CAS:528:DC%2BC38XhtlOrur0%3D 22150926 10.1111/j.1750-3639.2011.00546.x
-
Chen S, Zhang X, Song L, Le W (2012) Autophagy dysregulation in amyotrophic lateral sclerosis. Brain Pathol 22(1):110-116. doi: 10.1111/j.1750-3639.2011.00546.x
-
(2012)
Brain Pathol
, vol.22
, Issue.1
, pp. 110-116
-
-
Chen, S.1
Zhang, X.2
Song, L.3
Le, W.4
-
20
-
-
81255143014
-
Epigenetic regulation of motor neuron cell death through DNA methylation
-
10.1523/JNEUROSCI.1639-11.2011 1:CAS:528:DC%2BC3MXhsFaksLzO 3238138 22090490 10.1523/JNEUROSCI.1639-11.2011
-
Chestnut BA, Chang Q, Price A, Lesuisse C, Wong M, Martin LJ (2011) Epigenetic regulation of motor neuron cell death through DNA methylation. J Neurosci 31(46):16619-16636. doi: 10.1523/JNEUROSCI.1639-11.2011
-
(2011)
J Neurosci
, vol.31
, Issue.46
, pp. 16619-16636
-
-
Chestnut, B.A.1
Chang, Q.2
Price, A.3
Lesuisse, C.4
Wong, M.5
Martin, L.J.6
-
21
-
-
84862105985
-
Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive
-
10.1021/cb200408a 1:CAS:528:DC%2BC38XitF2msLY%3D 3356481 22332923 10.1021/cb200408a
-
Childs-Disney JL, Hoskins J, Rzuczek SG, Thornton CA, Disney MD (2012) Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol 7(5):856-862. doi: 10.1021/cb200408a
-
(2012)
ACS Chem Biol
, vol.7
, Issue.5
, pp. 856-862
-
-
Childs-Disney, J.L.1
Hoskins, J.2
Rzuczek, S.G.3
Thornton, C.A.4
Disney, M.D.5
-
22
-
-
27644525713
-
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
-
10.1016/j.molcel.2005.09.002 1:CAS:528:DC%2BD2MXht1KqsrjP 16285929 10.1016/j.molcel.2005.09.002
-
Cho DH, Thienes CP, Mahoney SE, Analau E, Filippova GN, Tapscott SJ (2005) Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell 20(3):483-489. doi: 10.1016/j.molcel.2005.09.002
-
(2005)
Mol Cell
, vol.20
, Issue.3
, pp. 483-489
-
-
Cho, D.H.1
Thienes, C.P.2
Mahoney, S.E.3
Analau, E.4
Filippova, G.N.5
Tapscott, S.J.6
-
23
-
-
80051695536
-
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
-
10.1093/hmg/ddr263 1:CAS:528:DC%2BC3MXhtVWmtrzF 21672921 10.1093/hmg/ddr263
-
Chung DW, Rudnicki DD, Yu L, Margolis RL (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet 20(17):3467-3477. doi: 10.1093/hmg/ddr263
-
(2011)
Hum Mol Genet
, vol.20
, Issue.17
, pp. 3467-3477
-
-
Chung, D.W.1
Rudnicki, D.D.2
Yu, L.3
Margolis, R.L.4
-
24
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
-
10.1002/ana.23946 23720273
-
Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E (2013) Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol. doi: 10.1002/ana.23946
-
(2013)
Ann Neurol
-
-
Ciura, S.1
Lattante, S.2
Le Ber, I.3
Latouche, M.4
Tostivint, H.5
Brice, A.6
Kabashi, E.7
-
25
-
-
84884782975
-
Repeat-associated non-ATG (RAN) translation in neurological disease
-
10.1093/hmg/ddt371 1:CAS:528:DC%2BC3sXhsFegs7rJ 23918658 10.1093/hmg/ddt371
-
Cleary JD, Ranum LP (2013) Repeat-associated non-ATG (RAN) translation in neurological disease. Hum Mol Genet 22(R1):R45-R51. doi: 10.1093/hmg/ddt371
-
(2013)
Hum Mol Genet
, vol.22
, Issue.R1
-
-
Cleary, J.D.1
Ranum, L.P.2
-
26
-
-
84857054634
-
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
-
10.1093/brain/awr365 22366792 10.1093/brain/awr365
-
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135(Pt 3):751-764. doi: 10.1093/brain/awr365
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 751-764
-
-
Cooper-Knock, J.1
Hewitt, C.2
Highley, J.R.3
Brockington, A.4
Milano, A.5
Man, S.6
Martindale, J.7
Hartley, J.8
Walsh, T.9
Gelsthorpe, C.10
Baxter, L.11
Forster, G.12
Fox, M.13
Bury, J.14
Mok, K.15
McDermott, C.J.16
Traynor, B.J.17
Kirby, J.18
Wharton, S.B.19
Ince, P.G.20
Hardy, J.21
Shaw, P.J.22
more..
-
27
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
10.1038/nature05017 1:CAS:528:DC%2BD28XosVOgu74%3D 16862115 10.1038/nature05017
-
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442(7105):920-924. doi: 10.1038/nature05017
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
Van Der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
Van Duijn, C.11
Peeters, K.12
Sciot, R.13
Santens, P.14
De Pooter, T.15
Mattheijssens, M.16
Van Den Broeck, M.17
Cuijt, I.18
Vennekens, K.19
De Deyn, P.P.20
Kumar-Singh, S.21
Van Broeckhoven, C.22
more..
-
28
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
10.1074/jbc.M410781200 1:CAS:528:DC%2BD2MXhtlClsbk%3D 15546872 10.1074/jbc.M410781200
-
Dansithong W, Paul S, Comai L, Reddy S (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280(7):5773-5780. doi: 10.1074/jbc.M410781200
-
(2005)
J Biol Chem
, vol.280
, Issue.7
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
Reddy, S.4
-
29
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
10.1016/j.neuron.2011.09.011 1:CAS:528:DC%2BC3MXhtlKrtL%2FP 3202986 21944778 10.1016/j.neuron.2011.09.011
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245-256. doi: 10.1016/j.neuron.2011.09.011
-
(2011)
Neuron
, vol.72
, Issue.2
, 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..
-
30
-
-
1642570212
-
Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons
-
10.1073/pnas.0307349101 15007167 10.1073/pnas.0307349101 1:CAS:528:DC%2BD2cXivFart7k%3D
-
Del Villar K, Miller CA (2004) Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons. Proc Natl Acad Sci USA 101(12):4210-4215. doi: 10.1073/pnas.0307349101
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, Issue.12
, pp. 4210-4215
-
-
Del Villar, K.1
Miller, C.A.2
-
31
-
-
84867769481
-
A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome
-
10.1021/cb300135h 1:CAS:528:DC%2BC38Xht12is7vN 3477254 22948243 10.1021/cb300135h
-
Disney MD, Liu B, Yang WY, Sellier C, Tran T, Charlet-Berguerand N, Childs-Disney JL (2012) A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome. ACS Chem Biol 7(10):1711-1718. doi: 10.1021/cb300135h
-
(2012)
ACS Chem Biol
, vol.7
, Issue.10
, pp. 1711-1718
-
-
Disney, M.D.1
Liu, B.2
Yang, W.Y.3
Sellier, C.4
Tran, T.5
Charlet-Berguerand, N.6
Childs-Disney, J.L.7
-
32
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
10.1016/j.neuron.2013.10.015 1:CAS:528:DC%2BC3sXhs1CrurfK 24139042 10.1016/j.neuron.2013.10.015
-
Donnelly CJ, Zhang PW, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80(2):415-428. doi: 10.1016/j.neuron.2013.10.015
-
(2013)
Neuron
, vol.80
, Issue.2
, pp. 415-428
-
-
Donnelly, C.J.1
Zhang, P.W.2
Pham, J.T.3
Heusler, A.R.4
Mistry, N.A.5
Vidensky, S.6
Daley, E.L.7
Poth, E.M.8
Hoover, B.9
Fines, D.M.10
Maragakis, N.11
Tienari, P.J.12
Petrucelli, L.13
Traynor, B.J.14
Wang, J.15
Rigo, F.16
Bennett, C.F.17
Blackshaw, S.18
Sattler, R.19
Rothstein, J.D.20
more..
-
33
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
-
1:CAS:528:DC%2BD38Xjt1GrsbY%3D 11929853 10.1093/hmg/11.7.805
-
Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 11(7):805-814
-
(2002)
Hum Mol Genet
, vol.11
, Issue.7
, pp. 805-814
-
-
Fardaei, M.1
Rogers, M.T.2
Thorpe, H.M.3
Larkin, K.4
Hamshere, M.G.5
Harper, P.S.6
Brook, J.D.7
-
34
-
-
0034935016
-
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
-
10.1038/ng570 1:CAS:528:DC%2BD3MXlslSiu7Y%3D 11479593 10.1038/ng570
-
Filippova GN, Thienes CP, Penn BH, Cho DH, Hu YJ, Moore JM, Klesert TR, Lobanenkov VV, Tapscott SJ (2001) CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 28(4):335-343. doi: 10.1038/ng570
-
(2001)
Nat Genet
, vol.28
, Issue.4
, pp. 335-343
-
-
Filippova, G.N.1
Thienes, C.P.2
Penn, B.H.3
Cho, D.H.4
Hu, Y.J.5
Moore, J.M.6
Klesert, T.R.7
Lobanenkov, V.V.8
Tapscott, S.J.9
-
35
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
10.1038/srep01016 3527825 23264878 10.1038/srep01016 1:CAS:528: DC%2BC3sXhtFaqsL4%3D
-
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2:1016. doi: 10.1038/srep01016
-
(2012)
Sci Rep
, vol.2
, pp. 1016
-
-
Fratta, P.1
Mizielinska, S.2
Nicoll, A.J.3
Zloh, M.4
Fisher, E.M.5
Parkinson, G.6
Isaacs, A.M.7
-
36
-
-
84883460229
-
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
-
10.1007/s00401-013-1147-0 1:CAS:528:DC%2BC3sXhtlyjtrjM 3753468 23818065 10.1007/s00401-013-1147-0
-
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S (2013) Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 126(3):401-409. doi: 10.1007/s00401-013-1147-0
-
(2013)
Acta Neuropathol
, vol.126
, Issue.3
, pp. 401-409
-
-
Fratta, P.1
Poulter, M.2
Lashley, T.3
Rohrer, J.D.4
Polke, J.M.5
Beck, J.6
Ryan, N.7
Hensman, D.8
Mizielinska, S.9
Waite, A.J.10
Lai, M.C.11
Gendron, T.F.12
Petrucelli, L.13
Fisher, E.M.14
Revesz, T.15
Warren, J.D.16
Collinge, J.17
Isaacs, A.M.18
Mead, S.19
-
37
-
-
84892590289
-
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
10.1007/s00401-013-1192-8 1:CAS:528:DC%2BC3sXhs1ehtLbF 3830741 24129584 10.1007/s00401-013-1192-8
-
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126(6):829-844. doi: 10.1007/s00401-013-1192-8
-
(2013)
Acta Neuropathol
, vol.126
, Issue.6
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.J.3
Jansen-West, K.4
Ash, P.E.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
Cosio, D.M.11
Van Blitterswijk, M.12
Lee, W.C.13
Rademakers, R.14
Boylan, K.B.15
Dickson, D.W.16
Petrucelli, L.17
-
38
-
-
63849176138
-
The role of tau in neurodegeneration
-
10.1186/1750-1326-4-13 2663562 19284597 10.1186/1750-1326-4-13 1:CAS:528:DC%2BD1MXlt1aiu7Y%3D
-
Gendron TF, Petrucelli L (2009) The role of tau in neurodegeneration. Mol Neurodegener 4:13. doi: 10.1186/1750-1326-4-13
-
(2009)
Mol Neurodegener
, vol.4
, pp. 13
-
-
Gendron, T.F.1
Petrucelli, L.2
-
39
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
10.1016/S1474-4422(11)70261-7 1:CAS:528:DC%2BC3MXhs1CisLzJ 22154785 10.1016/S1474-4422(11)70261-7
-
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7
-
(2012)
Lancet Neurol
, vol.11
, Issue.1
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
Van Der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
Engelborghs, S.11
Sieben, A.12
De Jonghe, P.13
Vandenberghe, R.14
Santens, P.15
De Bleecker, J.16
Maes, G.17
Baumer, V.18
Dillen, L.19
Joris, G.20
Cuijt, I.21
Corsmit, E.22
Elinck, E.23
Van Dongen, J.24
Vermeulen, S.25
Van Den Broeck, M.26
Vaerenberg, C.27
Mattheijssens, M.28
Peeters, K.29
Robberecht, W.30
Cras, P.31
Martin, J.J.32
De Deyn, P.P.33
Cruts, M.34
Van Broeckhoven, C.35
more..
-
40
-
-
79551574587
-
Dementia and cognitive impairment in amyotrophic lateral sclerosis: A review
-
10.1007/s10072-010-0439-6 20953810 10.1007/s10072-010-0439-6
-
Giordana MT, Ferrero P, Grifoni S, Pellerino A, Naldi A, Montuschi A (2011) Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci 32(1):9-16. doi: 10.1007/s10072-010-0439-6
-
(2011)
Neurol Sci
, vol.32
, Issue.1
, pp. 9-16
-
-
Giordana, M.T.1
Ferrero, P.2
Grifoni, S.3
Pellerino, A.4
Naldi, A.5
Montuschi, A.6
-
41
-
-
41949119043
-
TDP-43 A315T mutation in familial motor neuron disease
-
1:CAS:528:DC%2BD1cXmsFGqtLg%3D 2747362 18288693 10.1002/ana.21344
-
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63(4):535-538
-
(2008)
Ann Neurol
, vol.63
, Issue.4
, pp. 535-538
-
-
Gitcho, M.A.1
Baloh, R.H.2
Chakraverty, S.3
Mayo, K.4
Norton, J.B.5
Levitch, D.6
Hatanpaa, K.J.7
White III, C.L.8
Bigio, E.H.9
Caselli, R.10
Baker, M.11
Al-Lozi, M.T.12
Morris, J.C.13
Pestronk, A.14
Rademakers, R.15
Goate, A.M.16
Cairns, N.J.17
-
42
-
-
33846934718
-
Frontotemporal dementia
-
10.1055/s-2006-956755 17226741 10.1055/s-2006-956755
-
Graff-Radford NR, Woodruff BK (2007) Frontotemporal dementia. Semin Neurol 27(1):48-57. doi: 10.1055/s-2006-956755
-
(2007)
Semin Neurol
, vol.27
, Issue.1
, pp. 48-57
-
-
Graff-Radford, N.R.1
Woodruff, B.K.2
-
43
-
-
77956274512
-
Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking
-
10.1371/journal.pone.0009805 2842444 20339559 10.1371/journal.pone. 0009805 1:CAS:528:DC%2BC3cXjvFenu78%3D
-
Hadano S, Otomo A, Kunita R, Suzuki-Utsunomiya K, Akatsuka A, Koike M, Aoki M, Uchiyama Y, Itoyama Y, Ikeda JE (2010) Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS One 5(3):e9805. doi: 10.1371/journal.pone. 0009805
-
(2010)
PLoS One
, vol.5
, Issue.3
, pp. 9805
-
-
Hadano, S.1
Otomo, A.2
Kunita, R.3
Suzuki-Utsunomiya, K.4
Akatsuka, A.5
Koike, M.6
Aoki, M.7
Uchiyama, Y.8
Itoyama, Y.9
Ikeda, J.E.10
-
44
-
-
84857058225
-
Control of autophagy as a therapy for neurodegenerative disease
-
10.1038/nrneurol.2011.200 1:CAS:528:DC%2BC38XitFGru7c%3D 10.1038/nrneurol.2011.200
-
Harris H, Rubinsztein DC (2012) Control of autophagy as a therapy for neurodegenerative disease. Nat Rev Neurol 8(2):108-117. doi: 10.1038/nrneurol.2011.200
-
(2012)
Nat Rev Neurol
, vol.8
, Issue.2
, pp. 108-117
-
-
Harris, H.1
Rubinsztein, D.C.2
-
45
-
-
84856147847
-
Epigenetics in nucleotide repeat expansion disorders
-
10.1055/s-0031-1299786 3655547 22266885 10.1055/s-0031-1299786
-
He F, Todd PK (2011) Epigenetics in nucleotide repeat expansion disorders. Semin Neurol 31(5):470-483. doi: 10.1055/s-0031-1299786
-
(2011)
Semin Neurol
, vol.31
, Issue.5
, pp. 470-483
-
-
He, F.1
Todd, P.K.2
-
46
-
-
84857587514
-
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
-
10.1093/brain/awr354 22344582 10.1093/brain/awr354
-
Hsiung GY, Dejesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135(Pt 3):709-722. doi: 10.1093/brain/awr354
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 709-722
-
-
Hsiung, G.Y.1
Dejesus-Hernandez, M.2
Feldman, H.H.3
Sengdy, P.4
Bouchard-Kerr, P.5
Dwosh, E.6
Butler, R.7
Leung, B.8
Fok, A.9
Rutherford, N.J.10
Baker, M.11
Rademakers, R.12
Mackenzie, I.R.13
-
47
-
-
78449286213
-
Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin
-
10.1016/j.neuron.2010.09.034 1:CAS:528:DC%2BC3cXhsVGntb3E 2990962 21092856 10.1016/j.neuron.2010.09.034
-
Hu F, Padukkavidana T, Vaegter CB, Brady OA, Zheng Y, Mackenzie IR, Feldman HH, Nykjaer A, Strittmatter SM (2010) Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron 68(4):654-667. doi: 10.1016/j.neuron.2010.09.034
-
(2010)
Neuron
, vol.68
, Issue.4
, pp. 654-667
-
-
Hu, F.1
Padukkavidana, T.2
Vaegter, C.B.3
Brady, O.A.4
Zheng, Y.5
Mackenzie, I.R.6
Feldman, H.H.7
Nykjaer, A.8
Strittmatter, S.M.9
-
48
-
-
78751656754
-
Role of Rab GTPases in membrane traffic and cell physiology
-
10.1152/physrev.00059.2009 1:CAS:528:DC%2BC3MXisVCht74%3D 3710122 21248164 10.1152/physrev.00059.2009
-
Hutagalung AH, Novick PJ (2011) Role of Rab GTPases in membrane traffic and cell physiology. Physiol Rev 91(1):119-149. doi: 10.1152/physrev.00059.2009
-
(2011)
Physiol Rev
, vol.91
, Issue.1
, pp. 119-149
-
-
Hutagalung, A.H.1
Novick, P.J.2
-
49
-
-
11044233708
-
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
10.1093/hmg/ddh327 1:CAS:528:DC%2BD2cXhtVClu7rI 15496431 10.1093/hmg/ddh327
-
Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13(24):3079-3088. doi: 10.1093/hmg/ddh327
-
(2004)
Hum Mol Genet
, vol.13
, Issue.24
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
50
-
-
84875605133
-
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
-
10.1038/nature11922 1:CAS:528:DC%2BC3sXkslWkuro%3D 3756911 23455423 10.1038/nature11922
-
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP (2013) Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495(7442):467-473. doi: 10.1038/nature11922
-
(2013)
Nature
, vol.495
, Issue.7442
, pp. 467-473
-
-
Kim, H.J.1
Kim, N.C.2
Wang, Y.D.3
Scarborough, E.A.4
Moore, J.5
Diaz, Z.6
Maclea, K.S.7
Freibaum, B.8
Li, S.9
Molliex, A.10
Kanagaraj, A.P.11
Carter, R.12
Boylan, K.B.13
Wojtas, A.M.14
Rademakers, R.15
Pinkus, J.L.16
Greenberg, S.A.17
Trojanowski, J.Q.18
Traynor, B.J.19
Smith, B.N.20
Topp, S.21
Gkazi, A.S.22
Miller, J.23
Shaw, C.E.24
Kottlors, M.25
Kirschner, J.26
Pestronk, A.27
Li, Y.R.28
Ford, A.F.29
Gitler, A.D.30
Benatar, M.31
King, O.D.32
Kimonis, V.E.33
Ross, E.D.34
Weihl, C.C.35
Shorter, J.36
Taylor, J.P.37
more..
-
51
-
-
32344450824
-
Genomic DNA methylation: The mark and its mediators
-
10.1016/j.tibs.2005.12.008 1:CAS:528:DC%2BD28XhsFKqsL8%3D 16403636 10.1016/j.tibs.2005.12.008
-
Klose RJ, Bird AP (2006) Genomic DNA methylation: the mark and its mediators. Trends Biochem Sci 31(2):89-97. doi: 10.1016/j.tibs.2005.12.008
-
(2006)
Trends Biochem Sci
, vol.31
, Issue.2
, pp. 89-97
-
-
Klose, R.J.1
Bird, A.P.2
-
52
-
-
84862663712
-
Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis
-
10.1016/j.neuron.2012.05.009 1:CAS:528:DC%2BC38XptVKgtbs%3D 3383626 22726834 10.1016/j.neuron.2012.05.009
-
Kordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, Pytel KA, Artates JW, Weiss A, Cheng SH, Shihabuddin LS, Hung G, Bennett CF, Cleveland DW (2012) Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis. Neuron 74(6):1031-1044. doi: 10.1016/j.neuron.2012.05.009
-
(2012)
Neuron
, vol.74
, Issue.6
, pp. 1031-1044
-
-
Kordasiewicz, H.B.1
Stanek, L.M.2
Wancewicz, E.V.3
Mazur, C.4
McAlonis, M.M.5
Pytel, K.A.6
Artates, J.W.7
Weiss, A.8
Cheng, S.H.9
Shihabuddin, L.S.10
Hung, G.11
Bennett, C.F.12
Cleveland, D.W.13
-
53
-
-
83455243345
-
Autophagy in dementias
-
10.1111/j.1750-3639.2011.00545.x 1:CAS:528:DC%2BC38XhtlOrurw%3D 3243049 22150925 10.1111/j.1750-3639.2011.00545.x
-
Kragh CL, Ubhi K, Wyss-Coray T, Masliah E (2012) Autophagy in dementias. Brain Pathol 22(1):99-109. doi: 10.1111/j.1750-3639.2011.00545.x
-
(2012)
Brain Pathol
, vol.22
, Issue.1
, pp. 99-109
-
-
Kragh, C.L.1
Ubhi, K.2
Wyss-Coray, T.3
Masliah, E.4
-
54
-
-
84863385282
-
Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts
-
10.1021/cb200413a 1:CAS:528:DC%2BC38XosFCjtw%3D%3D 3306454 22252896 10.1021/cb200413a
-
Kumar A, Parkesh R, Sznajder LJ, Childs-Disney JL, Sobczak K, Disney MD (2012) Chemical correction of pre-mRNA splicing defects associated with sequestration of muscleblind-like 1 protein by expanded r(CAG)-containing transcripts. ACS Chem Biol 7(3):496-505. doi: 10.1021/cb200413a
-
(2012)
ACS Chem Biol
, vol.7
, Issue.3
, pp. 496-505
-
-
Kumar, A.1
Parkesh, R.2
Sznajder, L.J.3
Childs-Disney, J.L.4
Sobczak, K.5
Disney, M.D.6
-
55
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
10.1126/science.1166066 1:CAS:528:DC%2BD1MXit1eltbw%3D 19251627 10.1126/science.1166066
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205-1208. doi: 10.1126/science.1166066
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1205-1208
-
-
Kwiatkowski, Jr.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
Valdmanis, P.11
Rouleau, G.A.12
Hosler, B.A.13
Cortelli, P.14
De Jong, P.J.15
Yoshinaga, Y.16
Haines, J.L.17
Pericak-Vance, M.A.18
Yan, J.19
Ticozzi, N.20
Siddique, T.21
McKenna-Yasek, D.22
Sapp, P.C.23
Horvitz, H.R.24
Landers, J.E.25
Brown, Jr.R.H.26
more..
-
56
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
10.1093/hmg/ddm293 1:CAS:528:DC%2BD2sXhtlajsrrK 17921506 10.1093/hmg/ddm293
-
Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN (2007) An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 16(24):3174-3187. doi: 10.1093/hmg/ddm293
-
(2007)
Hum Mol Genet
, vol.16
, Issue.24
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
Moore, J.M.4
Georges, S.A.5
Hansen, R.S.6
Hagerman, R.J.7
Tassone, F.8
Tapscott, S.J.9
Filippova, G.N.10
-
57
-
-
84888098632
-
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
-
10.1073/pnas.1318835110 1:CAS:528:DC%2BC3sXhvFCisL3N 24170860 10.1073/pnas.1318835110
-
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci USA 110(47):E4530-E4539. doi: 10.1073/pnas.1318835110
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, Issue.47
-
-
Lagier-Tourenne, C.1
Baughn, M.2
Rigo, F.3
Sun, S.4
Liu, P.5
Li, H.R.6
Jiang, J.7
Watt, A.T.8
Chun, S.9
Katz, M.10
Qiu, J.11
Sun, Y.12
Ling, S.C.13
Zhu, Q.14
Polymenidou, M.15
Drenner, K.16
Artates, J.W.17
McAlonis-Downes, M.18
Markmiller, S.19
Hutt, K.R.20
Pizzo, D.P.21
Cady, J.22
Harms, M.B.23
Baloh, R.H.24
Vandenberg, S.R.25
Yeo, G.W.26
Fu, X.D.27
Bennett, C.F.28
Cleveland, D.W.29
Ravits, J.30
more..
-
58
-
-
84894298786
-
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency
-
10.1093/hmg/ddt534
-
Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, Gao FB, Petrucelli L (2013) Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Hum Mol Genet. doi: 10.1093/hmg/ddt534
-
(2013)
Hum Mol Genet
-
-
Lee, W.C.1
Almeida, S.2
Prudencio, M.3
Caulfield, T.R.4
Zhang, Y.J.5
Tay, W.M.6
Bauer, P.O.7
Chew, J.8
Sasaguri, H.9
Jansen-West, K.R.10
Gendron, T.F.11
Stetler, C.T.12
Finch, N.13
Mackenzie, I.R.14
Rademakers, R.15
Gao, F.B.16
Petrucelli, L.17
-
59
-
-
84890233174
-
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
-
10.1016/j.celrep.2013.10.049
-
Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE (2013) Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. doi: 10.1016/j.celrep.2013.10.049
-
(2013)
Cell Rep
-
-
Lee, Y.B.1
Chen, H.J.2
Peres, J.N.3
Gomez-Deza, J.4
Attig, J.5
Stalekar, M.6
Troakes, C.7
Nishimura, A.L.8
Scotter, E.L.9
Vance, C.10
Adachi, Y.11
Sardone, V.12
Miller, J.W.13
Smith, B.N.14
Gallo, J.M.15
Ule, J.16
Hirth, F.17
Rogelj, B.18
Houart, C.19
Shaw, C.E.20
more..
-
60
-
-
84874246696
-
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
-
10.1093/bioinformatics/bts725 1:CAS:528:DC%2BC3sXis1Ojsbk%3D 23329412 10.1093/bioinformatics/bts725
-
Levine TP, Daniels RD, Gatta AT, Wong LH, Hayes MJ (2013) The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29(4):499-503. doi: 10.1093/bioinformatics/bts725
-
(2013)
Bioinformatics
, vol.29
, Issue.4
, pp. 499-503
-
-
Levine, T.P.1
Daniels, R.D.2
Gatta, A.T.3
Wong, L.H.4
Hayes, M.J.5
-
61
-
-
0037426388
-
Are amyotrophic lateral sclerosis patients cognitively normal?
-
1:STN:280:DC%2BD3s7msFSitw%3D%3D 12682312 10.1212/01.WNL.0000055861. 95202.8D
-
Lomen-Hoerth C, Murphy J, Langmore S, Kramer JH, Olney RK, Miller B (2003) Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 60(7):1094-1097
-
(2003)
Neurology
, vol.60
, Issue.7
, pp. 1094-1097
-
-
Lomen-Hoerth, C.1
Murphy, J.2
Langmore, S.3
Kramer, J.H.4
Olney, R.K.5
Miller, B.6
-
62
-
-
0037124046
-
Heterogeneous nuclear ribonucleoprotein A3, a novel RNA trafficking response element-binding protein
-
10.1074/jbc.M200050200 1:CAS:528:DC%2BD38XktVCnurk%3D 11886857 10.1074/jbc.M200050200
-
Ma AS, Moran-Jones K, Shan J, Munro TP, Snee MJ, Hoek KS, Smith R (2002) Heterogeneous nuclear ribonucleoprotein A3, a novel RNA trafficking response element-binding protein. J Biol Chem 277(20):18010-18020. doi: 10.1074/jbc.M200050200
-
(2002)
J Biol Chem
, vol.277
, Issue.20
, pp. 18010-18020
-
-
Ma, A.S.1
Moran-Jones, K.2
Shan, J.3
Munro, T.P.4
Snee, M.J.5
Hoek, K.S.6
Smith, R.7
-
63
-
-
84892611020
-
Dipeptide repeat protein pathology in C9ORF72 mutation cases: Clinico-pathological correlations
-
10.1007/s00401-013-1181-y 1:CAS:528:DC%2BC3sXhs1SgurzL 24096617 10.1007/s00401-013-1181-y
-
Mackenzie IR, Arzberger T, Kremmer E, Troost D, Lorenzl S, Mori K, Weng SM, Haass C, Kretzschmar HA, Edbauer D, Neumann M (2013) Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol 126(6):859-879. doi: 10.1007/s00401-013-1181-y
-
(2013)
Acta Neuropathol
, vol.126
, Issue.6
, pp. 859-879
-
-
Mackenzie, I.R.1
Arzberger, T.2
Kremmer, E.3
Troost, D.4
Lorenzl, S.5
Mori, K.6
Weng, S.M.7
Haass, C.8
Kretzschmar, H.A.9
Edbauer, D.10
Neumann, M.11
-
64
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
1:CAS:528:DyaK38XhslWmurk%3D 1546325 10.1126/science.1546325
-
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255(5049):1253-1255
-
(1992)
Science
, vol.255
, Issue.5049
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
65
-
-
84857517997
-
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features
-
10.1093/brain/awr361 22366791 10.1093/brain/awr361
-
Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 135(Pt 3):736-750. doi: 10.1093/brain/awr361
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 736-750
-
-
Mahoney, C.J.1
Beck, J.2
Rohrer, J.D.3
Lashley, T.4
Mok, K.5
Shakespeare, T.6
Yeatman, T.7
Warrington, E.K.8
Schott, J.M.9
Fox, N.C.10
Rossor, M.N.11
Hardy, J.12
Collinge, J.13
Revesz, T.14
Mead, S.15
Warren, J.D.16
-
66
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
10.1016/S1474-4422(12)70043-1 1:CAS:528:DC%2BC38XksFWltbo%3D 3322422 22406228 10.1016/S1474-4422(12)70043-1
-
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323-330. doi: 10.1016/S1474-4422(12)70043-1
-
(2012)
Lancet Neurol
, vol.11
, Issue.4
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
Rollinson, S.6
Chio, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
Van Swieten, J.C.11
Abramzon, Y.12
Johnson, J.O.13
Sendtner, M.14
Pamphlett, R.15
Orrell, R.W.16
Mead, S.17
Sidle, K.C.18
Houlden, H.19
Rohrer, J.D.20
Morrison, K.E.21
Pall, H.22
Talbot, K.23
Ansorge, O.24
Hernandez, D.G.25
Arepalli, S.26
Sabatelli, M.27
Mora, G.28
Corbo, M.29
Giannini, F.30
Calvo, A.31
Englund, E.32
Borghero, G.33
Floris, G.L.34
Remes, A.M.35
Laaksovirta, H.36
McCluskey, L.37
Trojanowski, J.Q.38
Van Deerlin, V.M.39
Schellenberg, G.D.40
Nalls, M.A.41
Drory, V.E.42
Lu, C.S.43
Yeh, T.H.44
Ishiura, H.45
Takahashi, Y.46
Tsuji, S.47
Le Ber, I.48
Brice, A.49
Drepper, C.50
Williams, N.51
Kirby, J.52
Shaw, P.53
Hardy, J.54
Tienari, P.J.55
Heutink, P.56
Morris, H.R.57
Pickering-Brown, S.58
Traynor, B.J.59
more..
-
67
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
1:CAS:528:DC%2BD3cXmsV2rsLs%3D 10976074 10.1126/science.289.5485.1769 (pii: 8803)
-
Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289(5485):1769-1773 (pii: 8803)
-
(2000)
Science
, vol.289
, Issue.5485
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
Henderson, D.6
Krym, M.7
Thornton, C.A.8
-
68
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
S1097276502005634 1:CAS:528:DC%2BD38XmtFaktLg%3D 12150905 10.1016/S1097-2765(02)00563-4
-
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10(1):35-44. doi: S1097276502005634
-
(2002)
Mol Cell
, vol.10
, Issue.1
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
69
-
-
85005915306
-
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
-
10.1186/2051-5960-1-68 3893586 24252525 10.1186/2051-5960-1-68
-
Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1(1):68. doi: 10.1186/2051-5960-1-68
-
(2013)
Acta Neuropathol Commun
, vol.1
, Issue.1
, pp. 68
-
-
Mann, D.M.1
Rollinson, S.2
Robinson, A.3
Bennion Callister, J.4
Thompson, J.C.5
Snowden, J.S.6
Gendron, T.7
Petrucelli, L.8
Masuda-Suzukake, M.9
Hasegawa, M.10
Davidson, Y.11
Pickering-Brown, S.12
-
70
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
10.1093/emboj/19.17.4439 1:CAS:528:DC%2BD3cXmslGktbk%3D 10970838 10.1093/emboj/19.17.4439
-
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19(17):4439-4448. doi: 10.1093/emboj/19.17.4439
-
(2000)
EMBO J
, vol.19
, Issue.17
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
Thornton, C.A.6
Swanson, M.S.7
-
71
-
-
84876466100
-
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: A phase 1, randomised, first-in-man study
-
10.1016/S1474-4422(13)70061-9 1:CAS:528:DC%2BC3sXltVynsrY%3D 23541756 10.1016/S1474-4422(13)70061-9
-
Miller TM, Pestronk A, David W, Rothstein J, Simpson E, Appel SH, Andres PL, Mahoney K, Allred P, Alexander K, Ostrow LW, Schoenfeld D, Macklin EA, Norris DA, Manousakis G, Crisp M, Smith R, Bennett CF, Bishop KM, Cudkowicz ME (2013) An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurol 12(5):435-442. doi: 10.1016/S1474-4422(13)70061-9
-
(2013)
Lancet Neurol
, vol.12
, Issue.5
, pp. 435-442
-
-
Miller, T.M.1
Pestronk, A.2
David, W.3
Rothstein, J.4
Simpson, E.5
Appel, S.H.6
Andres, P.L.7
Mahoney, K.8
Allred, P.9
Alexander, K.10
Ostrow, L.W.11
Schoenfeld, D.12
Macklin, E.A.13
Norris, D.A.14
Manousakis, G.15
Crisp, M.16
Smith, R.17
Bennett, C.F.18
Bishop, K.M.19
Cudkowicz, M.E.20
more..
-
72
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
10.1007/s00401-013-1200-z 1:CAS:528:DC%2BC3sXhs1yru73E 3830745 24170096 10.1007/s00401-013-1200-z
-
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM (2013) C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol 126(6):845-857. doi: 10.1007/s00401-013-1200-z
-
(2013)
Acta Neuropathol
, vol.126
, Issue.6
, pp. 845-857
-
-
Mizielinska, S.1
Lashley, T.2
Norona, F.E.3
Clayton, E.L.4
Ridler, C.E.5
Fratta, P.6
Isaacs, A.M.7
-
73
-
-
28044432118
-
The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
-
10.1073/pnas.0505873102 1:CAS:528:DC%2BD2MXht1KgsL7L 16269545 10.1073/pnas.0505873102
-
Mooers BH, Logue JS, Berglund JA (2005) The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc Natl Acad Sci USA 102(46):16626-16631. doi: 10.1073/pnas.0505873102
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.46
, pp. 16626-16631
-
-
Mooers, B.H.1
Logue, J.S.2
Berglund, J.A.3
-
74
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
10.1007/s00401-013-1189-3 1:CAS:528:DC%2BC3sXhs1Kisb3K 24132570 10.1007/s00401-013-1189-3
-
Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126(6):881-893. doi: 10.1007/s00401-013-1189- 3
-
(2013)
Acta Neuropathol
, vol.126
, Issue.6
, pp. 881-893
-
-
Mori, K.1
Arzberger, T.2
Grasser, F.A.3
Gijselinck, I.4
May, S.5
Rentzsch, K.6
Weng, S.M.7
Schludi, M.H.8
Van Der Zee, J.9
Cruts, M.10
Van Broeckhoven, C.11
Kremmer, E.12
Kretzschmar, H.A.13
Haass, C.14
Edbauer, D.15
-
75
-
-
84874963127
-
HnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
-
10.1007/s00401-013-1088-7 1:CAS:528:DC%2BC3sXjtFGgsrw%3D 23381195 10.1007/s00401-013-1088-7
-
Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125(3):413-423. doi: 10.1007/s00401-013-1088-7
-
(2013)
Acta Neuropathol
, vol.125
, Issue.3
, pp. 413-423
-
-
Mori, K.1
Lammich, S.2
Mackenzie, I.R.3
Forne, I.4
Zilow, S.5
Kretzschmar, H.6
Edbauer, D.7
Janssens, J.8
Kleinberger, G.9
Cruts, M.10
Herms, J.11
Neumann, M.12
Van Broeckhoven, C.13
Arzberger, T.14
Haass, C.15
-
76
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
10.1126/science.1232927 1:CAS:528:DC%2BC3sXjvVaqtLw%3D 23393093 10.1126/science.1232927
-
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339(6125):1335-1338. doi: 10.1126/science.1232927
-
(2013)
Science
, vol.339
, Issue.6125
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
Haass, C.11
Edbauer, D.12
-
77
-
-
33745545413
-
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
-
10.1038/ng1827 1:CAS:528:DC%2BD28XmtFyru7Y%3D 16804541 10.1038/ng1827
-
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP (2006) Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 38(7):758-769. doi: 10.1038/ng1827
-
(2006)
Nat Genet
, vol.38
, Issue.7
, pp. 758-769
-
-
Moseley, M.L.1
Zu, T.2
Ikeda, Y.3
Gao, W.4
Mosemiller, A.K.5
Daughters, R.S.6
Chen, G.7
Weatherspoon, M.R.8
Clark, H.B.9
Ebner, T.J.10
Day, J.W.11
Ranum, L.P.12
-
78
-
-
82355180849
-
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
-
10.1007/s00401-011-0907-y 1:CAS:528:DC%2BC3MXhsFCms77K 3277860 22083254 10.1007/s00401-011-0907-y
-
Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW (2011) Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122(6):673-690. doi: 10.1007/s00401-011-0907-y
-
(2011)
Acta Neuropathol
, vol.122
, Issue.6
, pp. 673-690
-
-
Murray, M.E.1
Dejesus-Hernandez, M.2
Rutherford, N.J.3
Baker, M.4
Duara, R.5
Graff-Radford, N.R.6
Wszolek, Z.K.7
Ferman, T.J.8
Josephs, K.A.9
Boylan, K.B.10
Rademakers, R.11
Dickson, D.W.12
-
79
-
-
77954346346
-
The role of autophagy: What can be learned from the genetic forms of amyotrophic lateral sclerosis
-
BSP/CDTCNSND/E-Pub/00031 1:CAS:528:DC%2BC3cXos1Ojsb0%3D 20406184 10.2174/187152710791292594
-
Pasquali L, Ruffoli R, Fulceri F, Pietracupa S, Siciliano G, Paparelli A, Fornai F (2010) The role of autophagy: what can be learned from the genetic forms of amyotrophic lateral sclerosis. CNS Neurol Disord Drug Targets 9(3):268-278. doi: BSP/CDTCNSND/E-Pub/00031
-
(2010)
CNS Neurol Disord Drug Targets
, vol.9
, Issue.3
, pp. 268-278
-
-
Pasquali, L.1
Ruffoli, R.2
Fulceri, F.3
Pietracupa, S.4
Siciliano, G.5
Paparelli, A.6
Fornai, F.7
-
80
-
-
35248823549
-
Cognitive impairment in amyotrophic lateral sclerosis
-
1:CAS:528:DC%2BD2sXhtlCgsrfM 17945153 10.1016/S1474-4422(07)70265-X
-
Phukan J, Pender NP, Hardiman O (2007) Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol 6(11):994-1003
-
(2007)
Lancet Neurol
, vol.6
, Issue.11
, pp. 994-1003
-
-
Phukan, J.1
Pender, N.P.2
Hardiman, O.3
-
81
-
-
77949881379
-
Ubiquitinated p62-positive, TDP-43-negative inclusions in cerebellum in frontotemporal lobar degeneration with TAR DNA binding protein 43
-
10.1111/j.1440-1789.2009.01043.x 19622109 10.1111/j.1440-1789.2009.01043. x
-
Pikkarainen M, Hartikainen P, Alafuzoff I (2010) Ubiquitinated p62-positive, TDP-43-negative inclusions in cerebellum in frontotemporal lobar degeneration with TAR DNA binding protein 43. Neuropathology 30(2):197-199. doi: 10.1111/j.1440-1789.2009.01043.x
-
(2010)
Neuropathology
, vol.30
, Issue.2
, pp. 197-199
-
-
Pikkarainen, M.1
Hartikainen, P.2
Alafuzoff, I.3
-
82
-
-
84871843346
-
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor
-
10.1073/pnas.1211577110 1:CAS:528:DC%2BC3sXoslSltw%3D%3D 23236149 10.1073/pnas.1211577110
-
Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L (2012) Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci USA 109(52):21510-21515. doi: 10.1073/pnas.1211577110
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, Issue.52
, pp. 21510-21515
-
-
Prudencio, M.1
Jansen-West, K.R.2
Lee, W.C.3
Gendron, T.F.4
Zhang, Y.J.5
Xu, Y.F.6
Gass, J.7
Stuani, C.8
Stetler, C.9
Rademakers, R.10
Dickson, D.W.11
Buratti, E.12
Petrucelli, L.13
-
83
-
-
84875981640
-
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
-
10.1074/jbc.C113.452532 1:CAS:528:DC%2BC3sXlsVGitLo%3D 23423380 10.1074/jbc.C113.452532
-
Reddy K, Zamiri B, Stanley SY, Macgregor RB Jr, Pearson CE (2013) The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J Biol Chem 288(14):9860-9866. doi: 10.1074/jbc.C113.452532
-
(2013)
J Biol Chem
, vol.288
, Issue.14
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.3
Macgregor, Jr.R.B.4
Pearson, C.E.5
-
84
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI 3200438 21944779 10.1016/j.neuron.2011.09.010
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257-268. doi: 10.1016/j.neuron.2011.09.010
-
(2011)
Neuron
, vol.72
, Issue.2
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
Van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chio, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
85
-
-
52949094629
-
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
-
2527686 18802454 10.1371/journal.pgen.1000193 1:CAS:528: DC%2BD1cXht1ygtrzE
-
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R (2008) Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4(9):e1000193
-
(2008)
PLoS Genet
, vol.4
, Issue.9
, pp. 1000193
-
-
Rutherford, N.J.1
Zhang, Y.J.2
Baker, M.3
Gass, J.M.4
Finch, N.A.5
Xu, Y.F.6
Stewart, H.7
Kelley, B.J.8
Kuntz, K.9
Crook, R.J.10
Sreedharan, J.11
Vance, C.12
Sorenson, E.13
Lippa, C.14
Bigio, E.H.15
Geschwind, D.H.16
Knopman, D.S.17
Mitsumoto, H.18
Petersen, R.C.19
Cashman, N.R.20
Hutton, M.21
Shaw, C.E.22
Boylan, K.B.23
Boeve, B.24
Graff-Radford, N.R.25
Wszolek, Z.K.26
Caselli, R.J.27
Dickson, D.W.28
Mackenzie, I.R.29
Petrucelli, L.30
Rademakers, R.31
more..
-
86
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
10.1126/scitranslmed.3007529 24154603 10.1126/scitranslmed.3007529
-
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5(208):208ra149. doi: 10.1126/scitranslmed.3007529
-
(2013)
Sci Transl Med
, vol.5
, Issue.208
-
-
Sareen, D.1
O'Rourke, J.G.2
Meera, P.3
Muhammad, A.K.4
Grant, S.5
Simpkinson, M.6
Bell, S.7
Carmona, S.8
Ornelas, L.9
Sahabian, A.10
Gendron, T.11
Petrucelli, L.12
Baughn, M.13
Ravits, J.14
Harms, M.B.15
Rigo, F.16
Bennett, C.F.17
Otis, T.S.18
Svendsen, C.N.19
Baloh, R.H.20
more..
-
87
-
-
71849083831
-
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n
-
10.1016/j.ajhg.2009.09.019 1:CAS:528:DC%2BC3cXksFWrsQ%3D%3D 2775824 19878914 10.1016/j.ajhg.2009.09.019
-
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H (2009) Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85(5):544-557. doi: 10.1016/j.ajhg.2009.09.019
-
(2009)
Am J Hum Genet
, vol.85
, Issue.5
, pp. 544-557
-
-
Sato, N.1
Amino, T.2
Kobayashi, K.3
Asakawa, S.4
Ishiguro, T.5
Tsunemi, T.6
Takahashi, M.7
Matsuura, T.8
Flanigan, K.M.9
Iwasaki, S.10
Ishino, F.11
Saito, Y.12
Murayama, S.13
Yoshida, M.14
Hashizume, Y.15
Takahashi, Y.16
Tsuji, S.17
Shimizu, N.18
Toda, T.19
Ishikawa, K.20
Mizusawa, H.21
more..
-
88
-
-
84864910042
-
Dystrophic neurites express C9orf72 in Alzheimer's disease brains
-
10.1186/alzrt136 1:CAS:528:DC%2BC38Xhsl2jsb7I 3506947 22898310 10.1186/alzrt136
-
Satoh JI, Tabunoki H, Ishida T, Saito Y, Arima K (2012) Dystrophic neurites express C9orf72 in Alzheimer's disease brains. Alzheimers Res Ther 4(4):33. doi: 10.1186/alzrt136
-
(2012)
Alzheimers Res Ther
, vol.4
, Issue.4
, pp. 33
-
-
Satoh, J.I.1
Tabunoki, H.2
Ishida, T.3
Saito, Y.4
Arima, K.5
-
89
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
10.1093/brain/awr353 22300876 10.1093/brain/awr353
-
Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC (2012) The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 135(Pt 3):723-735. doi: 10.1093/brain/awr353
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 723-735
-
-
Simon-Sanchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
Hukema, R.K.4
Nicolaou, N.5
Seelaar, H.6
De Graaf, J.R.7
De Koning, I.8
Van Schoor, N.M.9
Deeg, D.J.10
Smits, M.11
Raaphorst, J.12
Van Den Berg, L.H.13
Schelhaas, H.J.14
De Die-Smulders, C.E.15
Majoor-Krakauer, D.16
Rozemuller, A.J.17
Willemsen, R.18
Pijnenburg, Y.A.19
Heutink, P.20
Van Swieten, J.C.21
more..
-
90
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
10.1093/brain/awr355 22300873 10.1093/brain/awr355
-
Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM, Pickering-Brown SM (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135(Pt 3):693-708. doi: 10.1093/brain/awr355
-
(2012)
Brain
, vol.135
, Issue.PART 3
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
Gibbons, L.11
Hu, Q.12
Duplessis, D.13
Neary, D.14
Mann, D.M.15
Pickering-Brown, S.M.16
-
91
-
-
0142009656
-
RNA structure of trinucleotide repeats associated with human neurological diseases
-
1:CAS:528:DC%2BD3sXns1Cntb8%3D 206466 14500809 10.1093/nar/gkg766
-
Sobczak K, de Mezer M, Michlewski G, Krol J, Krzyzosiak WJ (2003) RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res 31(19):5469-5482
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.19
, pp. 5469-5482
-
-
Sobczak, K.1
De Mezer, M.2
Michlewski, G.3
Krol, J.4
Krzyzosiak, W.J.5
-
92
-
-
0031911365
-
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat
-
10.1086/301711 1:CAS:528:DyaK1cXhslGjs7Y%3D 1376887 9463318 10.1086/301711
-
Steinbach P, Glaser D, Vogel W, Wolf M, Schwemmle S (1998) The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to
-
(1998)
Am J Hum Genet
, vol.62
, Issue.2
, pp. 278-285
-
-
Steinbach, P.1
Glaser, D.2
Vogel, W.3
Wolf, M.4
Schwemmle, S.5
-
93
-
-
84857921617
-
Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
-
10.1007/s00401-011-0937-5 1:CAS:528:DC%2BC38Xisl2ktbg%3D 3322555 22228244 10.1007/s00401-011-0937-5
-
Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, Dejesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 123(3):409-417. doi: 10.1007/s00401-011-0937-5
-
(2012)
Acta Neuropathol
, vol.123
, Issue.3
, pp. 409-417
-
-
Stewart, H.1
Rutherford, N.J.2
Briemberg, H.3
Krieger, C.4
Cashman, N.5
Fabros, M.6
Baker, M.7
Fok, A.8
Dejesus-Hernandez, M.9
Eisen, A.10
Rademakers, R.11
Mackenzie, I.R.12
-
94
-
-
84888369415
-
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
-
10.1038/nn.3566 1:CAS:528:DC%2BC3sXhslWjur%2FK 24185425 10.1038/nn.3566
-
Suzuki N, Maroof AM, Merkle FT, Koszka K, Intoh A, Armstrong I, Moccia R, Davis-Dusenbery BN, Eggan K (2013) The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nat Neurosci 16(12):1725-1727. doi: 10.1038/nn.3566
-
(2013)
Nat Neurosci
, vol.16
, Issue.12
, pp. 1725-1727
-
-
Suzuki, N.1
Maroof, A.M.2
Merkle, F.T.3
Koszka, K.4
Intoh, A.5
Armstrong, I.6
Moccia, R.7
Davis-Dusenbery, B.N.8
Eggan, K.9
-
95
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
1:CAS:528:DyaK2MXktlKlsr0%3D 7896884 10.1083/jcb.128.6.995
-
Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128(6):995-1002
-
(1995)
J Cell Biol
, vol.128
, Issue.6
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.2
Schalling, M.3
Housman, D.4
Singer, R.H.5
-
96
-
-
0029919450
-
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
-
1:CAS:528:DyaK28Xnt12ktbc%3D 146274 8948631 10.1093/nar/24.22.4407 (pii: 6e0437)
-
Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS (1996) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24(22):4407-4414 (pii: 6e0437)
-
(1996)
Nucleic Acids Res
, vol.24
, Issue.22
, pp. 4407-4414
-
-
Timchenko, L.T.1
Miller, J.W.2
Timchenko, N.A.3
Devore, D.R.4
Datar, K.V.5
Lin, L.6
Roberts, R.7
Caskey, C.T.8
Swanson, M.S.9
-
97
-
-
84877331220
-
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
-
10.1016/j.neuron.2013.03.026 1:CAS:528:DC%2BC3sXmt1CmtrY%3D 23602499 10.1016/j.neuron.2013.03.026
-
Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL (2013) CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78(3):440-455. doi: 10.1016/j.neuron.2013.03.026
-
(2013)
Neuron
, vol.78
, Issue.3
, pp. 440-455
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
He, F.4
Sellier, C.5
Frazer, M.6
Renoux, A.J.7
Chen, K.C.8
Scaglione, K.M.9
Basrur, V.10
Elenitoba-Johnson, K.11
Vonsattel, J.P.12
Louis, E.D.13
Sutton, M.A.14
Taylor, J.P.15
Mills, R.E.16
Charlet-Berguerand, N.17
Paulson, H.L.18
-
98
-
-
78650693402
-
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome
-
10.1371/journal.pgen.1001240 3000359 21170301 10.1371/journal.pgen. 1001240 1:CAS:528:DC%2BC3cXhsF2hs7zL
-
Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min KT, Taylor JP, Paulson HL (2010) Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet 6(12):e1001240. doi: 10.1371/journal.pgen.1001240
-
(2010)
PLoS Genet
, vol.6
, Issue.12
, pp. 1001240
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
Pandey, U.B.4
Di Prospero, N.A.5
Min, K.T.6
Taylor, J.P.7
Paulson, H.L.8
-
99
-
-
0037781523
-
Generation of protein isoform diversity by alternative initiation of translation at non-AUG codons
-
S0248490003000339 1:CAS:528:DC%2BD3sXlsVWqtrY%3D 12867081 10.1016/S0248-4900(03)00033-9
-
Touriol C, Bornes S, Bonnal S, Audigier S, Prats H, Prats AC, Vagner S (2003) Generation of protein isoform diversity by alternative initiation of translation at non-AUG codons. Biol Cell 95(3-4):169-178. doi: S0248490003000339
-
(2003)
Biol Cell
, vol.95
, Issue.3-4
, pp. 169-178
-
-
Touriol, C.1
Bornes, S.2
Bonnal, S.3
Audigier, S.4
Prats, H.5
Prats, A.C.6
Vagner, S.7
-
100
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
10.1126/science.1165942 1:CAS:528:DC%2BD1MXit1eltbs%3D 19251628 10.1126/science.1165942
-
Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323(5918):1208-1211. doi: 10.1126/science.1165942
-
(2009)
Science
, vol.323
, Issue.5918
, pp. 1208-1211
-
-
Vance, C.1
Rogelj, B.2
Hortobagyi, 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
Ganesalingam, J.11
Williams, K.L.12
Tripathi, V.13
Al-Saraj, S.14
Al-Chalabi, A.15
Leigh, P.N.16
Blair, I.P.17
Nicholson, G.18
De Belleroche, J.19
Gallo, J.M.20
Miller, C.C.21
Shaw, C.E.22
more..
-
101
-
-
34948872683
-
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy
-
10.1172/JCI32308 1:CAS:528:DC%2BD2sXhtFCnt73I 1964514 17823658 10.1172/JCI32308
-
Wang GS, Kearney DL, De Biasi M, Taffet G, Cooper TA (2007) Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest 117(10):2802-2811. doi: 10.1172/JCI32308
-
(2007)
J Clin Invest
, vol.117
, Issue.10
, pp. 2802-2811
-
-
Wang, G.S.1
Kearney, D.L.2
De Biasi, M.3
Taffet, G.4
Cooper, T.A.5
-
102
-
-
79955660764
-
An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice
-
10.1016/j.neuron.2011.03.021 1:CAS:528:DC%2BC3MXlvVeku7k%3D 3107122 21555070 10.1016/j.neuron.2011.03.021
-
Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70(3):427-440. doi: 10.1016/j.neuron.2011.03.021
-
(2011)
Neuron
, vol.70
, Issue.3
, pp. 427-440
-
-
Wilburn, B.1
Rudnicki, D.D.2
Zhao, J.3
Weitz, T.M.4
Cheng, Y.5
Gu, X.6
Greiner, E.7
Park, C.S.8
Wang, N.9
Sopher, B.L.10
La Spada, A.R.11
Osmand, A.12
Margolis, R.L.13
Sun, Y.E.14
Yang, X.W.15
-
103
-
-
77954116814
-
Autophagy gone awry in neurodegenerative diseases
-
10.1038/nn.2575 1:CAS:528:DC%2BC3cXnvFSgtrw%3D 20581817 10.1038/nn.2575
-
Wong E, Cuervo AM (2010) Autophagy gone awry in neurodegenerative diseases. Nat Neurosci 13(7):805-811. doi: 10.1038/nn.2575
-
(2010)
Nat Neurosci
, vol.13
, Issue.7
, pp. 805-811
-
-
Wong, E.1
Cuervo, A.M.2
-
104
-
-
84878863605
-
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion
-
10.1016/j.ajhg.2013.04.017 1:CAS:528:DC%2BC3sXotlCqurY%3D 3675239 23731538 10.1016/j.ajhg.2013.04.017
-
Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E (2013) Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92(6):981-989. doi: 10.1016/j.ajhg.2013.04.017
-
(2013)
Am J Hum Genet
, vol.92
, Issue.6
, pp. 981-989
-
-
Xi, Z.1
Zinman, L.2
Moreno, D.3
Schymick, J.4
Liang, Y.5
Sato, C.6
Zheng, Y.7
Ghani, M.8
Dib, S.9
Keith, J.10
Robertson, J.11
Rogaeva, E.12
-
105
-
-
70349843229
-
Splice site strength-dependent activity and genetic buffering by poly-G runs
-
10.1038/nsmb.1661 1:CAS:528:DC%2BD1MXhtFaju7zI 2766517 19749754 10.1038/nsmb.1661
-
Xiao X, Wang Z, Jang M, Nutiu R, Wang ET, Burge CB (2009) Splice site strength-dependent activity and genetic buffering by poly-G runs. Nat Struct Mol Biol 16(10):1094-1100. doi: 10.1038/nsmb.1661
-
(2009)
Nat Struct Mol Biol
, vol.16
, Issue.10
, pp. 1094-1100
-
-
Xiao, X.1
Wang, Z.2
Jang, M.3
Nutiu, R.4
Wang, E.T.5
Burge, C.B.6
-
106
-
-
84877342215
-
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
-
10.1073/pnas.1219643110 1:CAS:528:DC%2BC3sXptFWqs7Y%3D 23553836 10.1073/pnas.1219643110
-
Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P (2013) Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci USA 110(19):7778-7783. doi: 10.1073/pnas.1219643110
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, Issue.19
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
Li, Y.4
Shu, L.5
Nelson, D.L.6
Li, H.7
Hales, C.M.8
Gearing, M.9
Wingo, T.S.10
Jin, P.11
-
107
-
-
42949094584
-
TDP-43 mutation in familial amyotrophic lateral sclerosis
-
1:CAS:528:DC%2BD1cXmsFGqtLY%3D 18438952 10.1002/ana.21392
-
Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O (2008) TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63(4):538-542
-
(2008)
Ann Neurol
, vol.63
, Issue.4
, pp. 538-542
-
-
Yokoseki, A.1
Shiga, A.2
Tan, C.F.3
Tagawa, A.4
Kaneko, H.5
Koyama, A.6
Eguchi, H.7
Tsujino, A.8
Ikeuchi, T.9
Kakita, A.10
Okamoto, K.11
Nishizawa, M.12
Takahashi, H.13
Onodera, O.14
-
108
-
-
84874266850
-
Discovery of novel DENN proteins: Implications for the evolution of eukaryotic intracellular membrane structures and human disease
-
10.3389/fgene.2012.00283 3521125 23248642
-
Zhang D, Iyer LM, He F, Aravind L (2012) Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 3:283. doi: 10.3389/fgene.2012.00283
-
(2012)
Front Genet
, vol.3
, pp. 283
-
-
Zhang, D.1
Iyer, L.M.2
He, F.3
Aravind, L.4
-
109
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
10.1073/pnas.1013343108 1:CAS:528:DC%2BC3MXms1Kiuw%3D%3D 21173221 10.1073/pnas.1013343108
-
Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 108(1):260-265. doi: 10.1073/pnas.1013343108
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, Issue.1
, pp. 260-265
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
Gomes-Pereira, M.4
Huguet, A.5
Stone, M.D.6
Margolis, J.7
Peterson, M.8
Markowski, T.W.9
Ingram, M.A.10
Nan, Z.11
Forster, C.12
Low, W.C.13
Schoser, B.14
Somia, N.V.15
Clark, H.B.16
Schmechel, S.17
Bitterman, P.B.18
Gourdon, G.19
Swanson, M.S.20
Moseley, M.21
Ranum, L.P.22
more..
-
110
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
10.1073/pnas.1315438110
-
Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA. doi: 10.1073/pnas. 1315438110
-
(2013)
Proc Natl Acad Sci USA
-
-
Zu, T.1
Liu, Y.2
Banez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
Ostrow, L.W.11
Rothstein, J.D.12
Troncoso, J.C.13
Ranum, L.P.14
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