-
1
-
-
84877860468
-
Genetic and epigenetic studies of amyotrophic lateral sclerosis
-
A. Al-Chalabi Genetic and epigenetic studies of amyotrophic lateral sclerosis Amyotroph Lateral Scler Frontotemporal Degener 14 Suppl. 1 2013 44 52
-
(2013)
Amyotroph Lateral Scler Frontotemporal Degener
, vol.14
, pp. 44-52
-
-
Al-Chalabi, A.1
-
2
-
-
84883465132
-
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
-
S. Almeida Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons Acta Neuropathol 2013
-
(2013)
Acta Neuropathol
-
-
Almeida, S.1
-
3
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
P.E. Ash Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS Neuron 77 2013 639 646
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
-
4
-
-
84873843930
-
Genetic variations creating microRNA target sites in the FXN 3′-UTR affect frataxin expression in Friedreich ataxia
-
S. Bandiera Genetic variations creating microRNA target sites in the FXN 3′-UTR affect frataxin expression in Friedreich ataxia PLoS One 8 2013 e54791
-
(2013)
PLoS One
, vol.8
, pp. e54791
-
-
Bandiera, S.1
-
5
-
-
66749084437
-
A gamma-secretase inhibitor decreases amyloid-beta production in the central nervous system
-
R.J. Bateman A gamma-secretase inhibitor decreases amyloid-beta production in the central nervous system Ann Neurol. 66 2009 48 54
-
(2009)
Ann Neurol.
, vol.66
, pp. 48-54
-
-
Bateman, R.J.1
-
6
-
-
84881309461
-
Multiparametric MRI study of ALS stratified for the C9orf72 genotype
-
P. Bede Multiparametric MRI study of ALS stratified for the C9orf72 genotype Neurology 81 2013 361 369
-
(2013)
Neurology
, vol.81
, pp. 361-369
-
-
Bede, P.1
-
7
-
-
84892596606
-
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
-
Belzil, V.V., et al., 2013. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol.
-
(2013)
Acta Neuropathol.
-
-
Belzil, V.V.1
-
8
-
-
84907681995
-
Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients
-
Belzil, V.V., et al., 2014. Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res.
-
(2014)
Brain Res.
-
-
Belzil, V.V.1
-
9
-
-
84863393788
-
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
-
B.F. Boeve Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Brain 135 2012 765 783
-
(2012)
Brain
, vol.135
, pp. 765-783
-
-
Boeve, B.F.1
-
11
-
-
80755146087
-
Biomarkers in amyotrophic lateral sclerosis: Opportunities and limitations
-
R. Bowser, M.R. Turner, and J. Shefner Biomarkers in amyotrophic lateral sclerosis: opportunities and limitations Nat. Rev. Neurol. 7 2011 631 638
-
(2011)
Nat. Rev. Neurol.
, vol.7
, pp. 631-638
-
-
Bowser, R.1
Turner, M.R.2
Shefner, J.3
-
12
-
-
33947671871
-
Quantification of DNA methylation in electrofluidics chips (Bio-COBRA)
-
R.M. Brena Quantification of DNA methylation in electrofluidics chips (Bio-COBRA) Nat. Protoc. 1 2006 52 58
-
(2006)
Nat. Protoc.
, vol.1
, pp. 52-58
-
-
Brena, R.M.1
-
13
-
-
59849089676
-
Microsatellite repeat instability and neurological disease
-
J.R. Brouwer, R. Willemsen, and B.A. Oostra Microsatellite repeat instability and neurological disease BioEssays 31 2009 71 83
-
(2009)
BioEssays
, vol.31
, pp. 71-83
-
-
Brouwer, J.R.1
Willemsen, R.2
Oostra, B.A.3
-
14
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
-
S. Byrne Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study Lancet Neurol. 11 2012 232 240
-
(2012)
Lancet Neurol.
, vol.11
, pp. 232-240
-
-
Byrne, S.1
-
15
-
-
84878005741
-
Altered microRNA expression profile in amyotrophic lateral sclerosis: A role in the regulation of NFL mRNA levels
-
D. Campos-Melo Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels Mol. Brain 6 2013 26
-
(2013)
Mol. Brain
, vol.6
, pp. 26
-
-
Campos-Melo, D.1
-
16
-
-
70349229533
-
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies
-
R. Cardani Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies Eur. J. Histochem. 53 2009 107 111
-
(2009)
Eur. J. Histochem.
, vol.53
, pp. 107-111
-
-
Cardani, R.1
-
17
-
-
31744432337
-
The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation
-
J.F. Chen The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation Nat. Genet. 38 2006 228 233
-
(2006)
Nat. Genet.
, vol.38
, pp. 228-233
-
-
Chen, J.F.1
-
18
-
-
84865008239
-
TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways
-
A.S. Chen-Plotkin TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways J. Neurosci. 32 2012 11213 11227
-
(2012)
J. Neurosci.
, vol.32
, pp. 11213-11227
-
-
Chen-Plotkin, A.S.1
-
19
-
-
81255143014
-
Epigenetic regulation of motor neuron cell death through DNA methylation
-
B.A. Chestnut Epigenetic regulation of motor neuron cell death through DNA methylation J. Neurosci. 31 2011 16619 16636
-
(2011)
J. Neurosci.
, vol.31
, pp. 16619-16636
-
-
Chestnut, B.A.1
-
20
-
-
84900301478
-
Role of PET and SPECT in the study of amyotrophic lateral sclerosis
-
A. Cistaro Role of PET and SPECT in the study of amyotrophic lateral sclerosis Biomed. Res. Int. 2014 2014 237437
-
(2014)
Biomed. Res. Int.
, vol.2014
, pp. 237437
-
-
Cistaro, A.1
-
21
-
-
84899124212
-
The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients
-
A. Cistaro The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients Eur. J. Nucl. Med. Mol. Imaging. 41 2014 844 852
-
(2014)
Eur. J. Nucl. Med. Mol. Imaging.
, vol.41
, pp. 844-852
-
-
Cistaro, A.1
-
22
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
-
Ciura, S., et al., 2013. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann. Neurol.
-
(2013)
Ann. Neurol.
-
-
Ciura, S.1
-
23
-
-
84901002592
-
Repeat associated non-ATG (RAN) translation: New starts in microsatellite expansion disorders
-
J.D. Cleary, and L.P. Ranum Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders Curr. Opin. Genet. Dev. 26C 2014 6 15
-
(2014)
Curr. Opin. Genet. Dev.
, vol.26 C
, pp. 6-15
-
-
Cleary, J.D.1
Ranum, L.P.2
-
24
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
M. Cruts Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum Trends Neurosci. 36 2013 450 459
-
(2013)
Trends Neurosci.
, vol.36
, pp. 450-459
-
-
Cruts, M.1
-
25
-
-
0037824566
-
Initial human PET imaging studies with the dopamine transporter ligand 18F-FECNT
-
M.R. Davis Initial human PET imaging studies with the dopamine transporter ligand 18F-FECNT J. Nucl. Med. 44 2003 855 861
-
(2003)
J. Nucl. Med.
, vol.44
, pp. 855-861
-
-
Davis, M.R.1
-
26
-
-
84865536102
-
A miRNA signature in leukocytes from sporadic amyotrophic lateral sclerosis
-
B. De Felice A miRNA signature in leukocytes from sporadic amyotrophic lateral sclerosis Gene 508 2012 35 40
-
(2012)
Gene
, vol.508
, pp. 35-40
-
-
De Felice, B.1
-
27
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
M. DeJesus-Hernandez Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 2011 245 256
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
-
28
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
C.J. Donnelly RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention Neuron 80 2013 415 428
-
(2013)
Neuron
, vol.80
, pp. 415-428
-
-
Donnelly, C.J.1
-
29
-
-
84862147242
-
RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity
-
G.V. Echeverria, and T.A. Cooper RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity Brain Res. 1462 2012 100 111
-
(2012)
Brain Res.
, vol.1462
, pp. 100-111
-
-
Echeverria, G.V.1
Cooper, T.A.2
-
30
-
-
27644548948
-
Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry
-
M. Ehrich Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry Proc. Natl. Acad. Sci. U.S.A. 102 2005 15785 15790
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 15785-15790
-
-
Ehrich, M.1
-
31
-
-
40849139208
-
Epigenetics in cancer
-
M. Esteller Epigenetics in cancer N. Engl. J. Med. 358 2008 1148 1159
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 1148-1159
-
-
Esteller, M.1
-
32
-
-
84857045643
-
FXN methylation predicts expression and clinical outcome in Friedreich ataxia
-
M.V. Evans-Galea FXN methylation predicts expression and clinical outcome in Friedreich ataxia Ann. Neurol. 71 2012 487 497
-
(2012)
Ann. Neurol.
, vol.71
, pp. 487-497
-
-
Evans-Galea, M.V.1
-
33
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
-
M. Fardaei 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 2002 805 814
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 805-814
-
-
Fardaei, M.1
-
34
-
-
0020699979
-
Hypomethylation distinguishes genes of some human cancers from their normal counterparts
-
A.P. Feinberg, and B. Vogelstein Hypomethylation distinguishes genes of some human cancers from their normal counterparts Nature 301 1983 89 92
-
(1983)
Nature
, vol.301
, pp. 89-92
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
35
-
-
84890059739
-
Oligonucleotide-based therapy for FTD/ALS caused by the repeat expansion: A perspective
-
S.A. Fernandes Oligonucleotide-based therapy for FTD/ALS caused by the repeat expansion: a perspective J. Nucleic Acids 2013 2013 208245
-
(2013)
J. Nucleic Acids
, vol.2013
, pp. 208245
-
-
Fernandes, S.A.1
-
36
-
-
84873043215
-
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients
-
J.M. Fernandez-Costa Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients Hum. Mol. Genet. 22 2013 704 716
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 704-716
-
-
Fernandez-Costa, J.M.1
-
37
-
-
84883740172
-
25 years of neuroimaging in amyotrophic lateral sclerosis
-
B.R. Foerster, R.C. Welsh, and E.L. Feldman 25 years of neuroimaging in amyotrophic lateral sclerosis Nat. Rev. Neurol 9 2013 513 524
-
(2013)
Nat. Rev. Neurol
, vol.9
, pp. 513-524
-
-
Foerster, B.R.1
Welsh, R.C.2
Feldman, E.L.3
-
38
-
-
84862202857
-
Cause or effect: Misregulation of microRNA pathways in neurodegeneration
-
E. Gascon, and F.B. Gao Cause or effect: misregulation of microRNA pathways in neurodegeneration Front. Neurosci 6 2012 48
-
(2012)
Front. Neurosci
, vol.6
, pp. 48
-
-
Gascon, E.1
Gao, F.B.2
-
39
-
-
84901412961
-
The emerging roles of MicroRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders
-
E. Gascon, and F.B. Gao The emerging roles of MicroRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders J. Neurogenet 2014
-
(2014)
J. Neurogenet
-
-
Gascon, E.1
Gao, F.B.2
-
40
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
J.R. Gatchel, and H.Y. Zoghbi Diseases of unstable repeat expansion: mechanisms and common principles Nat. Rev. Genet. 6 2005 743 755
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
41
-
-
67749120074
-
Dimethylated lysine 9 of histone 3 is elevated in schizophrenia and exhibits a divergent response to histone deacetylase inhibitors in lymphocyte cultures
-
D.P. Gavin Dimethylated lysine 9 of histone 3 is elevated in schizophrenia and exhibits a divergent response to histone deacetylase inhibitors in lymphocyte cultures J. Psychiatry Neurosci. 34 2009 232 237
-
(2009)
J. Psychiatry Neurosci.
, vol.34
, pp. 232-237
-
-
Gavin, D.P.1
-
42
-
-
84892590289
-
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
T.F. Gendron Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS Acta Neuropathol 2013
-
(2013)
Acta Neuropathol
-
-
Gendron, T.F.1
-
43
-
-
84882687005
-
C9RAN translation: A potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia
-
T.F. Gendron, D.M. Cosio, and L. Petrucelli c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia Expert Opin. Ther. Targets 17 2013 991 995
-
(2013)
Expert Opin. Ther. Targets
, vol.17
, pp. 991-995
-
-
Gendron, T.F.1
Cosio, D.M.2
Petrucelli, L.3
-
44
-
-
84896699383
-
Mechanisms of toxicity in C9FTLD/ALS
-
T.F. Gendron Mechanisms of toxicity in C9FTLD/ALS Acta Neuropathol. 127 2014 359 376
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 359-376
-
-
Gendron, T.F.1
-
45
-
-
84884704157
-
MicroRNA-130b targets Fmr1 and regulates embryonic neural progenitor cell proliferation and differentiation
-
X. Gong MicroRNA-130b targets Fmr1 and regulates embryonic neural progenitor cell proliferation and differentiation Biochem. Biophys. Res. Commun. 439 2013 493 500
-
(2013)
Biochem. Biophys. Res. Commun.
, vol.439
, pp. 493-500
-
-
Gong, X.1
-
46
-
-
34548188589
-
Methylation-sensitive single-nucleotide primer extension (Ms-SNuPE) for quantitative measurement of DNA methylation
-
M.L. Gonzalgo, and G. Liang Methylation-sensitive single-nucleotide primer extension (Ms-SNuPE) for quantitative measurement of DNA methylation Nat. Protoc. 2 2007 1931 1936
-
(2007)
Nat. Protoc.
, vol.2
, pp. 1931-1936
-
-
Gonzalgo, M.L.1
Liang, G.2
-
47
-
-
79954597554
-
Identification of MBNL1 and MBNL3 domains required for splicing activation and repression
-
I. Grammatikakis Identification of MBNL1 and MBNL3 domains required for splicing activation and repression Nucleic Acids Res. 39 2010 2769 2780
-
(2010)
Nucleic Acids Res.
, vol.39
, pp. 2769-2780
-
-
Grammatikakis, I.1
-
48
-
-
84863109517
-
Deregulated microRNAs in myotonic dystrophy type 2
-
S. Greco Deregulated microRNAs in myotonic dystrophy type 2 PLoS One 7 2012 e39732
-
(2012)
PLoS One
, vol.7
, pp. e39732
-
-
Greco, S.1
-
49
-
-
84896259966
-
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
-
A.R.D. Haeusler, C.J. Periz, G. Simko, E.A.J. Shaw, P.G. Kim, M.S. Maragakis, N.J. Troncoso, J.C. Pandey, A. Sattler, R. Rothstein, and J.D. Wang, J. C9orf72 nucleotide repeat structures initiate molecular cascades of disease Nature 2014
-
(2014)
Nature
-
-
Haeusler, A.R.D.1
Periz, C.J.2
Simko, G.3
Shaw, E.A.J.4
Kim, P.G.5
Maragakis, M.S.6
Troncoso, N.J.7
Pandey, J.C.8
Sattler, A.9
Rothstein, R.10
Wang, J.J.D.11
-
50
-
-
77955599311
-
MiRNA malfunction causes spinal motor neuron disease
-
S. Haramati miRNA malfunction causes spinal motor neuron disease Proc. Natl. Acad. Sci. U.S.A. 107 2010 13111 13116
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 13111-13116
-
-
Haramati, S.1
-
51
-
-
84856147847
-
Epigenetics in nucleotide repeat expansion disorders
-
F. He, and P.K. Todd Epigenetics in nucleotide repeat expansion disorders Semin Neurol. 31 2011 470 483
-
(2011)
Semin Neurol.
, vol.31
, pp. 470-483
-
-
He, F.1
Todd, P.K.2
-
52
-
-
33845572150
-
Human body fluid proteome analysis
-
S. Hu, J.A. Loo, and D.T. Wong Human body fluid proteome analysis Proteomics 6 2006 6326 6353
-
(2006)
Proteomics
, vol.6
, pp. 6326-6353
-
-
Hu, S.1
Loo, J.A.2
Wong, D.T.3
-
53
-
-
41249102422
-
MicroRNA expression in the blood and brain of rats subjected to transient focal ischemia by middle cerebral artery occlusion
-
K. Jeyaseelan, K.Y. Lim, and A. Armugam MicroRNA expression in the blood and brain of rats subjected to transient focal ischemia by middle cerebral artery occlusion Stroke 39 2008 959 966
-
(2008)
Stroke
, vol.39
, pp. 959-966
-
-
Jeyaseelan, K.1
Lim, K.Y.2
Armugam, A.3
-
54
-
-
10744232413
-
Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B
-
W.E. Klunk Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B Ann. Neurol. 55 2004 306 319
-
(2004)
Ann. Neurol.
, vol.55
, pp. 306-319
-
-
Klunk, W.E.1
-
55
-
-
84884712642
-
Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice
-
E.D. Koval Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice Hum. Mol. Genet. 22 2013 4127 4135
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4127-4135
-
-
Koval, E.D.1
-
56
-
-
84872731142
-
Proteome analysis of body fluids for amyotrophic lateral sclerosis biomarker discovery
-
T. Kruger Proteome analysis of body fluids for amyotrophic lateral sclerosis biomarker discovery Proteomics Clin. Appl. 7 2013 123 135
-
(2013)
Proteomics Clin. Appl.
, vol.7
, pp. 123-135
-
-
Kruger, T.1
-
57
-
-
84907221451
-
Poly-dipeptides encoded by the C9ORF72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
-
I. Kwon Poly-dipeptides encoded by the C9ORF72 repeats bind nucleoli, impede RNA biogenesis, and kill cells Science 2014
-
(2014)
Science
-
-
Kwon, I.1
-
58
-
-
84888098632
-
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
-
C. Lagier-Tourenne Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration Proc. Natl. Acad. Sci. U.S.A 2013
-
(2013)
Proc. Natl. Acad. Sci. U.S.A
-
-
Lagier-Tourenne, C.1
-
59
-
-
0027751663
-
The C. Elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
-
R.C. Lee, R.L. Feinbaum, and V. Ambros The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14 Cell 75 1993 843 854
-
(1993)
Cell
, vol.75
, pp. 843-854
-
-
Lee, R.C.1
Feinbaum, R.L.2
Ambros, V.3
-
60
-
-
84890233174
-
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
-
Lee, Y.B., et al., 2013. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep.
-
(2013)
Cell Rep.
-
-
Lee, Y.B.1
-
61
-
-
84861426386
-
The current status of clinical proteomics and the use of MRM and MRM(3) for biomarker validation
-
J. Lemoine The current status of clinical proteomics and the use of MRM and MRM(3) for biomarker validation Expert Rev. Mol. Diagn. 12 2012 333 342
-
(2012)
Expert Rev. Mol. Diagn.
, vol.12
, pp. 333-342
-
-
Lemoine, J.1
-
62
-
-
84871590013
-
The FTD/ALS-associated RNA-binding protein TDP-43 regulates the robustness of neuronal specification through microRNA-9a in Drosophila
-
Z. Li The FTD/ALS-associated RNA-binding protein TDP-43 regulates the robustness of neuronal specification through microRNA-9a in Drosophila Hum. Mol. Genet. 22 2013 218 225
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 218-225
-
-
Li, Z.1
-
63
-
-
84881490873
-
Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis
-
S.C. Ling, M. Polymenidou, and D.W. Cleveland Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis Neuron 79 2013 416 438
-
(2013)
Neuron
, vol.79
, pp. 416-438
-
-
Ling, S.C.1
Polymenidou, M.2
Cleveland, D.W.3
-
64
-
-
73949091031
-
Brain and blood microRNA expression profiling of ischemic stroke, intracerebral hemorrhage, and kainate seizures
-
D.Z. Liu Brain and blood microRNA expression profiling of ischemic stroke, intracerebral hemorrhage, and kainate seizures J. Cereb. Blood Flow Metab. 30 2010 92 101
-
(2010)
J. Cereb. Blood Flow Metab.
, vol.30
, pp. 92-101
-
-
Liu, D.Z.1
-
65
-
-
84894308457
-
C9ORF72 mutations in neurodegenerative diseases
-
Y. Liu C9ORF72 mutations in neurodegenerative diseases Mol. Neurobiol 2013
-
(2013)
Mol. Neurobiol
-
-
Liu, Y.1
-
66
-
-
0033765916
-
Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil
-
C.M. Lloyd Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil Brain 123 Pt 11 2000 2289 2296
-
(2000)
Brain
, vol.123
, pp. 2289-2296
-
-
Lloyd, C.M.1
-
67
-
-
0033765916
-
Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil
-
C.M. Lloyd Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil Brain 123 Pt 11 2000 2289 2296
-
(2000)
Brain
, vol.123
, pp. 2289-2296
-
-
Lloyd, C.M.1
-
69
-
-
84857517997
-
Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features
-
C.J. Mahoney Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features Brain 135 2012 736 750
-
(2012)
Brain
, vol.135
, pp. 736-750
-
-
Mahoney, C.J.1
-
70
-
-
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
-
D.M. Mann 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 2013 68
-
(2013)
Acta Neuropathol. Commun.
, vol.1
, pp. 68
-
-
Mann, D.M.1
-
71
-
-
84886293196
-
Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: A new target of disease mechanisms
-
L.J. Martin, and M. Wong Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms Neurotherapeutics 10 2013 722 733
-
(2013)
Neurotherapeutics
, vol.10
, pp. 722-733
-
-
Martin, L.J.1
Wong, M.2
-
72
-
-
71549114589
-
Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease
-
M. Marullo Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease Brain Pathol. 20 2010 96 105
-
(2010)
Brain Pathol.
, vol.20
, pp. 96-105
-
-
Marullo, M.1
-
73
-
-
2342446265
-
Imaging beta-amyloid plaques and neurofibrillary tangles in the aging human brain
-
C.A. Mathis, Y. Wang, and W.E. Klunk Imaging beta-amyloid plaques and neurofibrillary tangles in the aging human brain Curr. Pharm. Des. 10 2004 1469 1492
-
(2004)
Curr. Pharm. Des.
, vol.10
, pp. 1469-1492
-
-
Mathis, C.A.1
Wang, Y.2
Klunk, W.E.3
-
74
-
-
84930000577
-
C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
-
S. May C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration Acta Neuropathol 2014
-
(2014)
Acta Neuropathol
-
-
May, S.1
-
75
-
-
57049151436
-
Epigenetic principles and mechanisms underlying nervous system functions in health and disease
-
M.F. Mehler Epigenetic principles and mechanisms underlying nervous system functions in health and disease Prog. Neurobiol. 86 2008 305 341
-
(2008)
Prog. Neurobiol.
, vol.86
, pp. 305-341
-
-
Mehler, M.F.1
-
76
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
J.W. Miller Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy EMBO J. 19 2000 4439 4448
-
(2000)
EMBO J.
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
-
77
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
S. Mizielinska C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci Acta Neuropathol. 126 2013 845 857
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 845-857
-
-
Mizielinska, S.1
-
78
-
-
84907188956
-
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
-
S. Mizielinska C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins Science 2014
-
(2014)
Science
-
-
Mizielinska, S.1
-
79
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
K. Mori Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins Acta Neuropathol. 126 2013 881 893
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 881-893
-
-
Mori, K.1
-
80
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
K. Mori The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS Science 339 2013 1335 1338
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
-
81
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
M. Neumann Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 2006 130 133
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
-
82
-
-
84862115153
-
Misregulated RNA processing in amyotrophic lateral sclerosis
-
M. Polymenidou Misregulated RNA processing in amyotrophic lateral sclerosis Brain Res. 1462 2012 3 15
-
(2012)
Brain Res.
, vol.1462
, pp. 3-15
-
-
Polymenidou, M.1
-
83
-
-
84878112669
-
Epigenetic mechanisms governing the process of neurodegeneration
-
I.A. Qureshi, and M.F. Mehler Epigenetic mechanisms governing the process of neurodegeneration Mol. Aspects Med. 34 2013 875 882
-
(2013)
Mol. Aspects Med.
, vol.34
, pp. 875-882
-
-
Qureshi, I.A.1
Mehler, M.F.2
-
84
-
-
84888428721
-
Developing epigenetic diagnostics and therapeutics for brain disorders
-
I.A. Qureshi, and M.F. Mehler Developing epigenetic diagnostics and therapeutics for brain disorders Trends Mol. Med. 19 2013 732 741
-
(2013)
Trends Mol. Med.
, vol.19
, pp. 732-741
-
-
Qureshi, I.A.1
Mehler, M.F.2
-
86
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
A.E. Renton A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 2011 257 268
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
-
87
-
-
84936770369
-
Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases
-
G. Riboldi Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases Mol. Neurobiol 2014
-
(2014)
Mol. Neurobiol
-
-
Riboldi, G.1
-
88
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
G.M. Ringholz Prevalence and patterns of cognitive impairment in sporadic ALS Neurology 65 2005 586 590
-
(2005)
Neurology
, vol.65
, pp. 586-590
-
-
Ringholz, G.M.1
-
89
-
-
0029030610
-
Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis
-
J.D. Rothstein Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis Ann. Neurol. 38 1995 73 84
-
(1995)
Ann. Neurol.
, vol.38
, pp. 73-84
-
-
Rothstein, J.D.1
-
90
-
-
43449137299
-
Protein biomarkers for amyotrophic lateral sclerosis
-
H. Ryberg, and R. Bowser Protein biomarkers for amyotrophic lateral sclerosis Expert Rev. Proteomics. 5 2008 249 262
-
(2008)
Expert Rev. Proteomics.
, vol.5
, pp. 249-262
-
-
Ryberg, H.1
Bowser, R.2
-
91
-
-
84879374089
-
Epigenetic biomarkers in laboratory diagnostics: Emerging approaches and opportunities
-
J. Sandoval Epigenetic biomarkers in laboratory diagnostics: emerging approaches and opportunities Expert Rev. Mol. Diagn. 13 2013 457 471
-
(2013)
Expert Rev. Mol. Diagn.
, vol.13
, pp. 457-471
-
-
Sandoval, J.1
-
92
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
(208ra149)
-
D. Sareen Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion Sci. Transl. Med. 5 2013 (208ra149)
-
(2013)
Sci. Transl. Med.
, vol.5
-
-
Sareen, D.1
-
93
-
-
84875804170
-
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome
-
C. Sellier Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome Cell Rep. 3 2013 869 880
-
(2013)
Cell Rep.
, vol.3
, pp. 869-880
-
-
Sellier, C.1
-
94
-
-
84908027765
-
Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS
-
Z. Su Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS Neuron 2014
-
(2014)
Neuron
-
-
Su, Z.1
-
95
-
-
84892597871
-
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. Elegans
-
M. Therrien Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans PLoS One 8 2013 e83450
-
(2013)
PLoS One
, vol.8
, pp. e83450
-
-
Therrien, M.1
-
96
-
-
77950529265
-
RNA-mediated neurodegeneration in repeat expansion disorders
-
P.K. Todd, and H.L. Paulson RNA-mediated neurodegeneration in repeat expansion disorders Ann. Neurol. 67 2010 291 300
-
(2010)
Ann. Neurol.
, vol.67
, pp. 291-300
-
-
Todd, P.K.1
Paulson, H.L.2
-
97
-
-
84895875610
-
MicroRNA-206: A potential circulating biomarker candidate for amyotrophic lateral sclerosis
-
J.M. Toivonen MicroRNA-206: a potential circulating biomarker candidate for amyotrophic lateral sclerosis PLoS One 9 2014 e89065
-
(2014)
PLoS One
, vol.9
, pp. e89065
-
-
Toivonen, J.M.1
-
98
-
-
38449113853
-
DNA methylation analysis by pyrosequencing
-
J. Tost, and I.G. Gut DNA methylation analysis by pyrosequencing Nat. Protoc. 2 2007 2265 2275
-
(2007)
Nat. Protoc.
, vol.2
, pp. 2265-2275
-
-
Tost, J.1
Gut, I.G.2
-
99
-
-
1842471942
-
Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: An [11C](R)-PK11195 positron emission tomography study
-
M.R. Turner Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study Neurobiol. Dis. 15 2004 601 609
-
(2004)
Neurobiol. Dis.
, vol.15
, pp. 601-609
-
-
Turner, M.R.1
-
100
-
-
20444470252
-
Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: Studies with [11C]flumazenil PET
-
M.R. Turner Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET Brain 128 2005 1323 1329
-
(2005)
Brain
, vol.128
, pp. 1323-1329
-
-
Turner, M.R.1
-
101
-
-
84900482527
-
Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: A prospective study
-
K. Van Laere Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study JAMA Neurol 71 2014 553 561
-
(2014)
JAMA Neurol
, vol.71
, pp. 553-561
-
-
Van Laere, K.1
-
102
-
-
0027730383
-
Posttranscriptional regulation of the heterochronic gene lin-14 by lin-4 mediates temporal pattern formation in C. Elegans
-
B. Wightman, I. Ha, and G. Ruvkun Posttranscriptional regulation of the heterochronic gene lin-14 by lin-4 mediates temporal pattern formation in C. elegans Cell 75 1993 855 862
-
(1993)
Cell
, vol.75
, pp. 855-862
-
-
Wightman, B.1
Ha, I.2
Ruvkun, G.3
-
103
-
-
72149131804
-
MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice
-
A.H. Williams MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice Science 326 2009 1549 1554
-
(2009)
Science
, vol.326
, pp. 1549-1554
-
-
Williams, A.H.1
-
104
-
-
84878863605
-
Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion
-
Z. Xi Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion Am. J. Hum. Genet. 92 2013 981 989
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 981-989
-
-
Xi, Z.1
-
105
-
-
75849150180
-
Epigenetic regulation of neuron-dependent induction of astroglial synaptic protein GLT1
-
Y. Yang Epigenetic regulation of neuron-dependent induction of astroglial synaptic protein GLT1 Glia 58 2010 277 286
-
(2010)
Glia
, vol.58
, pp. 277-286
-
-
Yang, Y.1
-
106
-
-
84919912448
-
Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
-
Y.J. Zhang Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress Acta Neuropathol 2014
-
(2014)
Acta Neuropathol
-
-
Zhang, Y.J.1
-
107
-
-
84885357213
-
MiRNA-9 expression is upregulated in the spinal cord of G93A-SOD1 transgenic mice
-
F. Zhou miRNA-9 expression is upregulated in the spinal cord of G93A-SOD1 transgenic mice Int. J. Clin. Exp. Pathol 6 2013 1826 1838
-
(2013)
Int. J. Clin. Exp. Pathol
, vol.6
, pp. 1826-1838
-
-
Zhou, F.1
-
108
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
T. Zu Non-ATG-initiated translation directed by microsatellite expansions Proc. Natl. Acad. Sci. U.S.A. 108 2011 260 265
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 260-265
-
-
Zu, T.1
-
109
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
T. Zu RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia Proc. Natl. Acad. Sci. U.S.A. 110 2013 E4968 E4977
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
, pp. E4968-E4977
-
-
Zu, T.1
-
110
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
T. Zu RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia Proc. Natl. Acad. Sci. U.S.A 2013
-
(2013)
Proc. Natl. Acad. Sci. U.S.A
-
-
Zu, T.1
-
111
-
-
0041353535
-
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes
-
C. Zuccato Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes Nat. Genet. 35 2003 76 83
-
(2003)
Nat. Genet.
, vol.35
, pp. 76-83
-
-
Zuccato, C.1
|