메뉴 건너뛰기




Volumn 18, Issue 8, 2015, Pages 1175-1182

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Author keywords

[No Author keywords available]

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; RNA BINDING PROTEIN EWS; RNA POLYMERASE II; TRANSCRIPTOME; C9ORF72 PROTEIN, HUMAN; PROTEIN; RNA;

EID: 84938421758     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.4065     Document Type: Article
Times cited : (286)

References (68)
  • 1
    • 43549091368 scopus 로고    scopus 로고
    • Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis
    • Geser, F. et al. Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis. Arch. Neurol. 65, 636-641 (2008).
    • (2008) Arch. Neurol. , vol.65 , pp. 636-641
    • Geser, F.1
  • 2
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1
  • 3
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton, A.E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1
  • 4
    • 84870041158 scopus 로고    scopus 로고
    • How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?
    • van Blitterswijk, M., DeJesus-Hernandez, M. & Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 25, 689-700 (2012).
    • (2012) Curr. Opin. Neurol. , vol.25 , pp. 689-700
    • Van Blitterswijk, M.1    DeJesus-Hernandez, M.2    Rademakers, R.3
  • 5
    • 84874272095 scopus 로고    scopus 로고
    • Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specifc to c9FTD/ALS
    • Ash, P.E. et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specifc to c9FTD/ALS. Neuron 77, 639-646 (2013).
    • (2013) Neuron , vol.77 , pp. 639-646
    • Ash, P.E.1
  • 6
    • 84892585689 scopus 로고    scopus 로고
    • Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
    • Mori, K. et al. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol. 126, 881-893 (2013).
    • (2013) Acta Neuropathol. , vol.126 , pp. 881-893
    • Mori, K.1
  • 7
    • 84874962380 scopus 로고    scopus 로고
    • The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
    • Mori, K. et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338 (2013).
    • (2013) Science , vol.339 , pp. 1335-1338
    • Mori, K.1
  • 8
    • 84892590289 scopus 로고    scopus 로고
    • Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
    • Gendron, T.F. et al. 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, 829-844 (2013).
    • (2013) Acta Neuropathol. , vol.126 , pp. 829-844
    • Gendron, T.F.1
  • 9
    • 84907188956 scopus 로고    scopus 로고
    • C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
    • Mizielinska, S. et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345, 1192-1194 (2014).
    • (2014) Science , vol.345 , pp. 1192-1194
    • Mizielinska, S.1
  • 10
    • 84930000577 scopus 로고    scopus 로고
    • C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
    • May, S. et al. C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol. 128, 485-503 (2014).
    • (2014) Acta Neuropathol. , vol.128 , pp. 485-503
    • May, S.1
  • 11
    • 84919912448 scopus 로고    scopus 로고
    • Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
    • Zhang, Y.J. et al. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol. 128, 505-524 (2014).
    • (2014) Acta Neuropathol. , vol.128 , pp. 505-524
    • Zhang, Y.J.1
  • 12
    • 84907221451 scopus 로고    scopus 로고
    • Poly-dipeptides encoded by the C9ORF72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
    • Kwon, I. et al. Poly-dipeptides encoded by the C9ORF72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science 345, 1139-1145 (2014).
    • (2014) Science , vol.345 , pp. 1139-1145
    • Kwon, I.1
  • 13
    • 84936157423 scopus 로고    scopus 로고
    • Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
    • Yamakawa, M. et al. Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS. Hum. Mol. Genet. 24, 1630-1645 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 1630-1645
    • Yamakawa, M.1
  • 14
    • 84926357619 scopus 로고    scopus 로고
    • Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
    • Wen, X. et al. Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron 84, 1213-1225 (2014).
    • (2014) Neuron , vol.84 , pp. 1213-1225
    • Wen, X.1
  • 15
    • 84929711852 scopus 로고    scopus 로고
    • Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
    • Tao, Z. et al. Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity. Hum. Mol. Genet. 24, 2426-2441 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 2426-2441
    • Tao, Z.1
  • 16
    • 84885808774 scopus 로고    scopus 로고
    • RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
    • Donnelly, C.J. et al. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80, 415-428 (2013).
    • (2013) Neuron , vol.80 , pp. 415-428
    • Donnelly, C.J.1
  • 17
    • 84888098632 scopus 로고    scopus 로고
    • Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
    • Lagier-Tourenne, C. et al. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc. Natl. Acad. Sci. U.S.A. 110, E4530-E4539 (2013).
    • (2013) Proc. Natl. Acad. Sci. U.S.A. , vol.110 , pp. E4530-E4539
    • Lagier-Tourenne, C.1
  • 18
    • 84886389563 scopus 로고    scopus 로고
    • Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
    • Sareen, D. et al. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci. Transl. Med. 5, 208ra149 (2013).
    • (2013) Sci. Transl. Med. , vol.5 , pp. 208ra149
    • Sareen, D.1
  • 19
    • 84890233174 scopus 로고    scopus 로고
    • Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
    • Lee, Y.B. et al. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep. 5, 1178-1186 (2013).
    • (2013) Cell Rep. , vol.5 , pp. 1178-1186
    • Lee, Y.B.1
  • 20
    • 84903513101 scopus 로고    scopus 로고
    • Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
    • Cooper-Knock, J. et al. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain 137, 2040-2051 (2014).
    • (2014) Brain , vol.137 , pp. 2040-2051
    • Cooper-Knock, J.1
  • 21
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Neumann, M. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133 (2006).
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1
  • 22
    • 77949910265 scopus 로고    scopus 로고
    • Transactive response DNA-binding protein 43 (TDP-43): Mechanisms of neurodegeneration
    • Gendron, T.F., Josephs, K.A. & Petrucelli, L. Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration. Neuropathol. Appl. Neurobiol. 36, 97-112 (2010).
    • (2010) Neuropathol. Appl. Neurobiol. , vol.36 , pp. 97-112
    • Gendron, T.F.1    Josephs, K.A.2    Review, P.L.3
  • 23
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan, J. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668-1672 (2008).
    • (2008) Science , vol.319 , pp. 1668-1672
    • Sreedharan, J.1
  • 24
    • 61349156118 scopus 로고    scopus 로고
    • Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    • Kwiatkowski, T.J. Jr. et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205-1208 (2009).
    • (2009) Science , vol.323 , pp. 1205-1208
    • Kwiatkowski, T.J.1
  • 25
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance, C. et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208-1211 (2009).
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1
  • 26
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden, A.C. et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466, 1069-1075 (2010).
    • (2010) Nature , vol.466 , pp. 1069-1075
    • Elden, A.C.1
  • 27
    • 84863507711 scopus 로고    scopus 로고
    • Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
    • Couthouis, J. et al. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 2899-2911 (2012).
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 2899-2911
    • Couthouis, J.1
  • 28
    • 79952585425 scopus 로고    scopus 로고
    • Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis
    • Ticozzi, N. et al. Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B, 285-290 (2011).
    • (2011) Am. J. Med. Genet. B Neuropsychiatr. Genet. , vol.156 B , pp. 285-290
    • Ticozzi, N.1
  • 29
    • 84875605133 scopus 로고    scopus 로고
    • Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
    • Kim, H.J. et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495, 467-473 (2013).
    • (2013) Nature , vol.495 , pp. 467-473
    • Kim, H.J.1
  • 30
    • 84878535352 scopus 로고    scopus 로고
    • OLego: Fast and sensitive mapping of spliced mRNA-Seq reads using small seeds
    • Wu, J., Anczukow, O., Krainer, A.R., Zhang, M.Q. & Zhang, C. OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds. Nucleic Acids Res. 41, 5149-5163 (2013).
    • (2013) Nucleic Acids Res. , vol.41 , pp. 5149-5163
    • Wu, J.1    Anczukow, O.2    Krainer, A.R.3    Zhang, M.Q.4    Zhang, C.5
  • 31
    • 0035804675 scopus 로고    scopus 로고
    • Identifcation of alternative splicing of spinocerebellar ataxia type 2 gene
    • Affaitati, A., de Cristofaro, T., Feliciello, A. & Varrone, S. Identifcation of alternative splicing of spinocerebellar ataxia type 2 gene. Gene 267, 89-93 (2001).
    • (2001) Gene , vol.267 , pp. 89-93
    • Affaitati, A.1    De Cristofaro, T.2    Feliciello, A.3    Varrone, S.4
  • 32
    • 0032885930 scopus 로고    scopus 로고
    • Fibrillogenesis of tau: Insights from tau missense mutations in FTDP-17
    • Yen, S.H., Hutton, M., DeTure, M., Ko, L.W. & Nacharaju, P. Fibrillogenesis of tau: insights from tau missense mutations in FTDP-17. Brain Pathol. 9, 695-705 (1999).
    • (1999) Brain Pathol. , vol.9 , pp. 695-705
    • Yen, S.H.1    Hutton, M.2    DeTure, M.3    Ko, L.W.4    Nacharaju, P.5
  • 33
    • 0036315264 scopus 로고    scopus 로고
    • Brain-specifc splicing of α-actinin 1 (ACTN1) mRNA
    • Kremerskothen, J. et al. Brain-specifc splicing of α-actinin 1 (ACTN1) mRNA. Biochem. Biophys. Res. Commun. 295, 678-681 (2002).
    • (2002) Biochem. Biophys. Res. Commun. , vol.295 , pp. 678-681
    • Kremerskothen, J.1
  • 34
    • 84869786773 scopus 로고    scopus 로고
    • PARP6, a mono(ADP-ribosyl) transferase and a negative regulator of cell proliferation, is involved in colorectal cancer development
    • Tuncel, H. et al. PARP6, a mono(ADP-ribosyl) transferase and a negative regulator of cell proliferation, is involved in colorectal cancer development. Int. J. Oncol. 41, 2079-2086 (2012).
    • (2012) Int. J. Oncol. , vol.41 , pp. 2079-2086
    • Tuncel, H.1
  • 35
    • 0034629304 scopus 로고    scopus 로고
    • Identifcation of alternative spliced variants of human hypoxia-inducible factor-1α
    • Gothié, E., Richard, D.E., Berra, E., Pages, G. & Pouyssegur, J. Identifcation of alternative spliced variants of human hypoxia-inducible factor-1α. J. Biol. Chem. 275, 6922-6927 (2000).
    • (2000) J. Biol. Chem. , vol.275 , pp. 6922-6927
    • Gothié, E.1    Richard, D.E.2    Berra, E.3    Pages, G.4    Pouyssegur, J.5
  • 36
    • 84880427394 scopus 로고    scopus 로고
    • A compendium of RNA-binding motifs for decoding gene regulation
    • Ray, D. et al. A compendium of RNA-binding motifs for decoding gene regulation. Nature 499, 172-177 (2013).
    • (2013) Nature , vol.499 , pp. 172-177
    • Ray, D.1
  • 37
    • 84899644069 scopus 로고    scopus 로고
    • Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
    • Johnson, J.O. et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat. Neurosci. 17, 664-666 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 664-666
    • Johnson, J.O.1
  • 38
    • 84923366707 scopus 로고    scopus 로고
    • Dynamic analyses of alternative polyadenylation from RNA-seq reveal a 3′-UTR landscape across seven tumour types
    • Xia, Z. et al. Dynamic analyses of alternative polyadenylation from RNA-seq reveal a 3′-UTR landscape across seven tumour types. Nat. Commun. 5, 5274 (2014).
    • (2014) Nat. Commun. , vol.5 , pp. 5274
    • Xia, Z.1
  • 39
    • 84903819005 scopus 로고    scopus 로고
    • Ataxin-2 as potential disease modifer in C9ORF72 expansion carriers
    • van Blitterswijk, M. et al. Ataxin-2 as potential disease modifer in C9ORF72 expansion carriers. Neurobiol. Aging 35, 2421.e13-2421.e17 (2014).
    • (2014) Neurobiol. Aging , vol.35 , pp. 2421e13-2421e17
    • Van Blitterswijk, M.1
  • 40
    • 84874963127 scopus 로고    scopus 로고
    • HnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
    • Mori, K. et al. 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, 413-423 (2013).
    • (2013) Acta Neuropathol. , vol.125 , pp. 413-423
    • Mori, K.1
  • 41
    • 84869765539 scopus 로고    scopus 로고
    • Alternative polyadenylation: New insights from global analyses
    • Shi, Y. Alternative polyadenylation: new insights from global analyses. RNA 18, 2105-2117 (2012).
    • (2012) RNA , vol.18 , pp. 2105-2117
    • Shi, Y.1
  • 42
    • 84922319971 scopus 로고    scopus 로고
    • Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease
    • Batra, R. et al. Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease. Mol. Cell 56, 311-322 (2014).
    • (2014) Mol. Cell , vol.56 , pp. 311-322
    • Batra, R.1
  • 43
    • 84860317107 scopus 로고    scopus 로고
    • The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites
    • Jenal, M. et al. The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites. Cell 149, 538-553 (2012).
    • (2012) Cell , vol.149 , pp. 538-553
    • Jenal, M.1
  • 44
    • 34547622115 scopus 로고    scopus 로고
    • Diffusion tensor imaging and voxel based morphometry study in amyotrophic lateral sclerosis: Relationships with motor disability
    • Thivard, L. et al. Diffusion tensor imaging and voxel based morphometry study in amyotrophic lateral sclerosis: relationships with motor disability. J. Neurol. Neurosurg. Psychiatry 78, 889-892 (2007).
    • (2007) J. Neurol. Neurosurg. Psychiatry , vol.78 , pp. 889-892
    • Thivard, L.1
  • 45
    • 37349009196 scopus 로고    scopus 로고
    • Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia
    • Seeley, W.W. et al. Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia. Arch. Neurol. 65, 249-255 (2008).
    • (2008) Arch. Neurol. , vol.65 , pp. 249-255
    • Seeley, W.W.1
  • 46
    • 84930233526 scopus 로고    scopus 로고
    • Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum
    • Tan, R.H. et al. Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PLoS One 9, e105632 (2014).
    • (2014) PLoS One , vol.9 , pp. e105632
    • Tan, R.H.1
  • 47
    • 84925355069 scopus 로고    scopus 로고
    • Patterns of cerebral and cerebellar white matter degeneration in ALS
    • Bede, P. et al. Patterns of cerebral and cerebellar white matter degeneration in ALS. J. Neurol. Neurosurg. Psychiatry 86, 468-470 (2015).
    • (2015) J. Neurol. Neurosurg. Psychiatry , vol.86 , pp. 468-470
    • Bede, P.1
  • 48
    • 84872677920 scopus 로고    scopus 로고
    • Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis
    • Irwin, D.J. et al. Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 84, 163-169 (2013).
    • (2013) J. Neurol. Neurosurg. Psychiatry , vol.84 , pp. 163-169
    • Irwin, D.J.1
  • 49
    • 84866510871 scopus 로고    scopus 로고
    • Longitudinal neuroimaging and neuropsychological profles of frontotemporal dementia with C9ORF72 expansions
    • Mahoney, C.J. et al. Longitudinal neuroimaging and neuropsychological profles of frontotemporal dementia with C9ORF72 expansions. Alzheimers Res. Ther. 4, 41 (2012).
    • (2012) Alzheimers Res. Ther. , vol.4 , pp. 41
    • Mahoney, C.J.1
  • 50
    • 84863393788 scopus 로고    scopus 로고
    • Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    • Boeve, B.F. et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135, 765-783 (2012).
    • (2012) Brain , vol.135 , pp. 765-783
    • Boeve, B.F.1
  • 51
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "clinical limits of amyotrophic lateral sclerosis" workshop contributors
    • Brooks, B.R. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J. Neurol. Sci. 124, 96-107 (1994).
    • (1994) J. Neurol. Sci. , vol.124 , pp. 96-107
    • Brooks, B.R.1
  • 53
    • 0025863618 scopus 로고
    • Neuropathological stageing of Alzheimer-related changes
    • Braak, H. & Braak, E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. 82, 239-259 (1991).
    • (1991) Acta Neuropathol. , vol.82 , pp. 239-259
    • Braak, H.1    Braak, E.2
  • 54
    • 82355180849 scopus 로고    scopus 로고
    • Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    • Murray, M.E. et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 122, 673-690 (2011).
    • (2011) Acta Neuropathol. , vol.122 , pp. 673-690
    • Murray, M.E.1
  • 55
    • 80051663321 scopus 로고    scopus 로고
    • Neuropathologically defned subtypes of Alzheimer's disease with distinct clinical characteristics: A retrospective study
    • Murray, M.E. et al. Neuropathologically defned subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study. Lancet Neurol. 10, 785-796 (2011).
    • (2011) Lancet Neurol. , vol.10 , pp. 785-796
    • Murray, M.E.1
  • 56
    • 66149114101 scopus 로고    scopus 로고
    • Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity
    • Zhang, Y.J. et al. Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc. Natl. Acad. Sci. USA 106, 7607-7612 (2009).
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 7607-7612
    • Zhang, Y.J.1
  • 57
    • 84902945763 scopus 로고    scopus 로고
    • MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing
    • Kalari, K.R. et al. MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing. BMC Bioinformatics 15, 224 (2014).
    • (2014) BMC Bioinformatics , vol.15 , pp. 224
    • Kalari, K.R.1
  • 58
    • 84864912095 scopus 로고    scopus 로고
    • Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
    • Charizanis, K. et al. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron 75, 437-450 (2012).
    • (2012) Neuron , vol.75 , pp. 437-450
    • Charizanis, K.1
  • 59
    • 75249087100 scopus 로고    scopus 로고
    • EdgeR: A Bioconductor package for differential expression analysis of digital gene expression data
    • Robinson, M.D., McCarthy, D.J. & Smyth, G.K. edgeR: a Bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics 26, 139-140 (2010).
    • (2010) Bioinformatics , vol.26 , pp. 139-140
    • Robinson, M.D.1    McCarthy, D.J.2    Smyth, G.K.3
  • 60
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang, D.W., Sherman, B.T. & Lempicki, R.A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
    • (2009) Nat. Protoc. , vol.4 , pp. 44-57
    • Huang, D.W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 62
    • 60549111634 scopus 로고    scopus 로고
    • WGCNA: An R package for weighted correlation network analysis
    • Langfelder, P. & Horvath, S. WGCNA: an R package for weighted correlation network analysis. BMC Bioinformatics 9, 559 (2008).
    • (2008) BMC Bioinformatics , vol.9 , pp. 559
    • Langfelder, P.1    Horvath, S.2
  • 63
    • 38449101120 scopus 로고    scopus 로고
    • Integration of biological networks and gene expression data using Cytoscape
    • Cline, M.S. et al. Integration of biological networks and gene expression data using Cytoscape. Nat. Protoc. 2, 2366-2382 (2007).
    • (2007) Nat. Protoc. , vol.2 , pp. 2366-2382
    • Cline, M.S.1
  • 64
    • 77954250511 scopus 로고    scopus 로고
    • AltAnalyze and DomainGraph: Analyzing and visualizing exon expression data
    • Emig, D. et al. AltAnalyze and DomainGraph: analyzing and visualizing exon expression data. Nucleic Acids Res. 38, W755-W762 (2010).
    • (2010) Nucleic Acids Res. , vol.38 , pp. W755-W762
    • Emig, D.1
  • 65
    • 84876515907 scopus 로고    scopus 로고
    • STRING v9.1: Protein-protein interaction networks, with increased coverage and integration
    • Franceschini, A. et al. STRING v9.1: protein-protein interaction networks, with increased coverage and integration. Nucleic Acids Res. 41, D808-D815 (2013).
    • (2013) Nucleic Acids Res. , vol.41 , pp. D808-D815
    • Franceschini, A.1
  • 66
    • 79958117256 scopus 로고    scopus 로고
    • MEME-ChIP: Motif analysis of large DNA datasets
    • Machanick, P. & Bailey, T.L. MEME-ChIP: motif analysis of large DNA datasets. Bioinformatics 27, 1696-1697 (2011).
    • (2011) Bioinformatics , vol.27 , pp. 1696-1697
    • Machanick, P.1    Bailey, T.L.2
  • 67
    • 84861161751 scopus 로고    scopus 로고
    • Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins
    • Huelga, S.C. et al. Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins. Cell Rep. 1, 167-178 (2012).
    • (2012) Cell Rep. , vol.1 , pp. 167-178
    • Huelga, S.C.1
  • 68
    • 84903129276 scopus 로고    scopus 로고
    • CFIm25 links alternative polyadenylation to glioblastoma tumour suppression
    • Masamha, C.P. et al. CFIm25 links alternative polyadenylation to glioblastoma tumour suppression. Nature 510, 412-416 (2014).
    • (2014) Nature , vol.510 , pp. 412-416
    • Masamha, C.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.