-
1
-
-
0037044240
-
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
-
Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002;59:1077-1079.
-
(2002)
Neurology
, vol.59
, pp. 1077-1079
-
-
Lomen-Hoerth, C.1
Anderson, T.2
Miller, B.3
-
2
-
-
84870188303
-
Molecular analysis and biochemical classification of TDP-43 proteinopathy
-
Tsuji H, Arai T, Kametani F, et al. Molecular analysis and biochemical classification of TDP-43 proteinopathy. Brain 2012;135:3380-3391.
-
(2012)
Brain
, vol.135
, pp. 3380-3391
-
-
Tsuji, H.1
Arai, T.2
Kametani, F.3
-
3
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
Dejesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
-
4
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
-
5
-
-
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
-
Gijselinck I, Van Langenhove T, van der Zee J, et al. 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 2012;11:54-65.
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
Van Der Zee, J.3
-
6
-
-
84945749129
-
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
-
Cirulli ET, Lasseigne BN, Petrovski S, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 2015;347:1436-1441.
-
(2015)
Science
, vol.347
, pp. 1436-1441
-
-
Cirulli, E.T.1
Lasseigne, B.N.2
Petrovski, S.3
-
7
-
-
84928695187
-
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
-
Freischmidt A, Wieland T, Richter B, et al. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci 2015;18:631-636.
-
(2015)
Nat Neurosci
, vol.18
, pp. 631-636
-
-
Freischmidt, A.1
Wieland, T.2
Richter, B.3
-
8
-
-
84931007726
-
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
-
Pottier C, Bieniek KF, Finch N, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol 2015;130: 77-92.
-
(2015)
Acta Neuropathol
, vol.130
, pp. 77-92
-
-
Pottier, C.1
Bieniek, K.F.2
Finch, N.3
-
9
-
-
84874835620
-
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort
-
Van Langenhove T, van der Zee J, Gijselinck I, et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA Neurol 2013;70:365-373.
-
(2013)
JAMA Neurol
, vol.70
, pp. 365-373
-
-
Van Langenhove, T.1
Van Der Zee, J.2
Gijselinck, I.3
-
10
-
-
39049153337
-
Electrodiagnostic criteria for diagnosis of ALS
-
de Carvalho M, Dengler R, Eisen A, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008; 119:497-503.
-
(2008)
Clin Neurophysiol
, vol.119
, pp. 497-503
-
-
De Carvalho, M.1
Dengler, R.2
Eisen, A.3
-
12
-
-
0031672540
-
Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
-
Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
-
(1998)
Neurology
, vol.51
, pp. 1546-1554
-
-
Neary, D.1
Snowden, J.S.2
Gustafson, L.3
-
13
-
-
79959599081
-
A harmonized classification system for FTLD-TDP pathology
-
Mackenzie IR, Neumann M, Baborie A, et al. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 2011;122:111-113.
-
(2011)
Acta Neuropathol
, vol.122
, pp. 111-113
-
-
Mackenzie, I.R.1
Neumann, M.2
Baborie, A.3
-
14
-
-
79955481873
-
Crystal structure of inhibitor of kappaB kinase beta
-
Xu G, Lo YC, Li Q, et al. Crystal structure of inhibitor of kappaB kinase beta. Nature 2011;472:325-330.
-
(2011)
Nature
, vol.472
, pp. 325-330
-
-
Xu, G.1
Lo, Y.C.2
Li, Q.3
-
15
-
-
84875814149
-
Crystal structure and mechanism of activation of TANK-binding kinase 1
-
Larabi A, Devos JM, Ng SL, et al. Crystal structure and mechanism of activation of TANK-binding kinase 1. Cell Rep 2013;3:734-746.
-
(2013)
Cell Rep
, vol.3
, pp. 734-746
-
-
Larabi, A.1
Devos, J.M.2
Ng, S.L.3
-
16
-
-
84862233012
-
Molecular basis of tank-binding kinase 1 activation by transautophosphorylation
-
Ma X, Helgason E, Phung QT, et al. Molecular basis of tank-binding kinase 1 activation by transautophosphorylation. Proc Natl Acad Sci USA 2012;109:9378-9383.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 9378-9383
-
-
Ma, X.1
Helgason, E.2
Phung, Q.T.3
-
17
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci 2013;36:450-459.
-
(2013)
Trends Neurosci
, vol.36
, pp. 450-459
-
-
Cruts, M.1
Gijselinck, I.2
Van Langenhove, T.3
Van Der Zee, J.4
Van Broeckhoven, C.5
-
18
-
-
84979253514
-
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
-
October 20
-
Gijselinck I, Van Mossevelde S, van der Zee J, et al. The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry Epub 2015 October 20.
-
(2015)
Mol Psychiatry Epub
-
-
Gijselinck, I.1
Van Mossevelde, S.2
Van Der Zee, J.3
-
19
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010;42:234-239.
-
(2010)
Nat Genet
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
-
20
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash PE, Bieniek KF, Gendron TF, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013;77:639-646.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
-
21
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori K, Weng SM, Arzberger T, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013; 339:1335-1338.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
-
22
-
-
51249095133
-
The IKK-related kinases: From innate immunity to oncogenesis
-
Clement JF, Meloche S, Servant MJ. The IKK-related kinases: from innate immunity to oncogenesis. Cell Res 2008;18:889-899.
-
(2008)
Cell Res
, vol.18
, pp. 889-899
-
-
Clement, J.F.1
Meloche, S.2
Servant, M.J.3
-
23
-
-
84865357562
-
TBK-1 promotes autophagy-mediated antimicrobial defense by controlling autophagosome maturation
-
Pilli M, Arko-Mensah J, Ponpuak M, et al. TBK-1 promotes autophagy-mediated antimicrobial defense by controlling autophagosome maturation. Immunity 2012;37:223-234.
-
(2012)
Immunity
, vol.37
, pp. 223-234
-
-
Pilli, M.1
Arko-Mensah, J.2
Ponpuak, M.3
-
24
-
-
70350450808
-
The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria
-
Thurston TL, Ryzhakov G, Bloor S, von Muhlinen N, Randow F. The TBK1 adaptor and autophagy receptor NDP52 restricts the proliferation of ubiquitin-coated bacteria. Nat Immunol 2009;10:1215-1221.
-
(2009)
Nat Immunol
, vol.10
, pp. 1215-1221
-
-
Thurston, T.L.1
Ryzhakov, G.2
Bloor, S.3
Von Muhlinen, N.4
Randow, F.5
-
25
-
-
70449091786
-
Systematic RNA interference reveals that oncogenic KRAS-driven cancers require TBK1
-
Barbie DA, Tamayo P, Boehm JS, et al. Systematic RNA interference reveals that oncogenic KRAS-driven cancers require TBK1. Nature 2009;462:108-112.
-
(2009)
Nature
, vol.462
, pp. 108-112
-
-
Barbie, D.A.1
Tamayo, P.2
Boehm, J.S.3
-
26
-
-
80052197913
-
TBK1 mediates crosstalk between the innate immune response and autophagy
-
Weidberg H, Elazar Z. TBK1 mediates crosstalk between the innate immune response and autophagy. Sci Signal 2011;4:e39.
-
(2011)
Sci Signal
, vol.4
, pp. e39
-
-
Weidberg, H.1
Elazar, Z.2
-
27
-
-
80053917869
-
Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon beta
-
Gleason CE, Ordureau A, Gourlay R, Arthur JS, Cohen P. Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon beta. J Biol Chem 2011;286:35663-35674.
-
(2011)
J Biol Chem
, vol.286
, pp. 35663-35674
-
-
Gleason, C.E.1
Ordureau, A.2
Gourlay, R.3
Arthur, J.S.4
Cohen, P.5
-
28
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465: 223-226.
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
-
29
-
-
84867543551
-
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Rubino E, Rainero I, Chio A, et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012;79:1556-1562.
-
(2012)
Neurology
, vol.79
, pp. 1556-1562
-
-
Rubino, E.1
Rainero, I.2
Chio, A.3
-
30
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Fecto F, Yan J, Vemula SP, et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 2011;68:1440-1446.
-
(2011)
Arch Neurol
, vol.68
, pp. 1440-1446
-
-
Fecto, F.1
Yan, J.2
Vemula, S.P.3
-
31
-
-
74049126112
-
The adaptor protein p62/SQSTM1 targets invading bacteria to the autophagy pathway
-
Zheng YT, Shahnazari S, Brech A, Lamark T, Johansen T, Brumell JH. The adaptor protein p62/SQSTM1 targets invading bacteria to the autophagy pathway. J Immunol 2009;183:5909-5916.
-
(2009)
J Immunol
, vol.183
, pp. 5909-5916
-
-
Zheng, Y.T.1
Shahnazari, S.2
Brech, A.3
Lamark, T.4
Johansen, T.5
Brumell, J.H.6
-
32
-
-
79960804104
-
Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth
-
Wild P, Farhan H, McEwan DG, et al. Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 2011;333:228-233.
-
(2011)
Science
, vol.333
, pp. 228-233
-
-
Wild, P.1
Farhan, H.2
McEwan, D.G.3
-
33
-
-
79952753922
-
TANK-binding kinase 1 attenuates PTAP-dependent retroviral budding through targeting endosomal sorting complex required for transport-I
-
Da Q, Yang X, Xu Y, Gao G, Cheng G, Tang H. TANK-binding kinase 1 attenuates PTAP-dependent retroviral budding through targeting endosomal sorting complex required for transport-I. J Immunol 2011;186: 3023-3030.
-
(2011)
J Immunol
, vol.186
, pp. 3023-3030
-
-
Da, Q.1
Yang, X.2
Xu, Y.3
Gao, G.4
Cheng, G.5
Tang, H.6
-
34
-
-
77953583994
-
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
-
Urwin H, Authier A, Nielsen JE, et al. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet 2010;19: 2228-2238.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2228-2238
-
-
Urwin, H.1
Authier, A.2
Nielsen, J.E.3
-
35
-
-
70349649217
-
Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III
-
Lee JA, Liu L, Gao FB. Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III. Autophagy 2009;5:1070-1072.
-
(2009)
Autophagy
, vol.5
, pp. 1070-1072
-
-
Lee, J.A.1
Liu, L.2
Gao, F.B.3
-
36
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosincontaining protein
-
Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosincontaining protein. Nat Genet 2004;36:377-381.
-
(2004)
Nat Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
Wymer, J.2
Kovach, M.J.3
-
37
-
-
18244385269
-
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
-
Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002;295:1077-1079.
-
(2002)
Science
, vol.295
, pp. 1077-1079
-
-
Rezaie, T.1
Child, A.2
Hitchings, R.3
-
38
-
-
79956006929
-
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
-
Fingert JH, Robin AL, Stone JL, et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 2011;20: 2482-2494.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2482-2494
-
-
Fingert, J.H.1
Robin, A.L.2
Stone, J.L.3
-
39
-
-
39849109338
-
Autophagy fights disease through cellular self-digestion
-
Mizushima N, Levine B, Cuervo AM, Klionsky DJ. Autophagy fights disease through cellular self-digestion. Nature 2008;451:1069-1075.
-
(2008)
Nature
, vol.451
, pp. 1069-1075
-
-
Mizushima, N.1
Levine, B.2
Cuervo, A.M.3
Klionsky, D.J.4
|