-
1
-
-
84870572714
-
Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models
-
doi: 10.1038/ng.2434
-
Armakola, M., Higgins, M. J., Figley, M. D., Barmada, S. J., Scarborough, E. A., Diaz, Z., et al. (2012). Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nat. Genet. 44, 1302-1309. doi: 10.1038/ng.2434
-
(2012)
Nat. Genet.
, vol.44
, pp. 1302-1309
-
-
Armakola, M.1
Higgins, M.J.2
Figley, M.D.3
Barmada, S.J.4
Scarborough, E.A.5
Diaz, Z.6
-
2
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
doi: 10.1016/j.neuron.2013.02.004
-
Ash, P. E., Bieniek, K. F., Gendron, T. F., Caulfield, T., Lin, W. L., Dejesus-Hernandez, M., et al. (2013). Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 1-8. doi: 10.1016/j.neuron.2013.02.004
-
(2013)
Neuron
, vol.77
, pp. 1-8
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
-
3
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA-binding
-
doi: 10.1126/science.7692601
-
Ashley, C. T., Jr., Wilkinson, K. D., Reines, D., and Warren, S. T. (1993). FMR1 protein: conserved RNP family domains and selective RNA-binding. Science 262, 563-566. doi: 10.1126/science.7692601
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley Jr., C.T.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
4
-
-
84859179041
-
A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity
-
doi: 10.1371/journal.pgen.1002481
-
Bañez-Coronel, M., Porta, S., Kagerbauer, B., Mateu-Huertas, E., Pantano, L., Ferrer, I., et al. (2012). A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet. 8:e1002481. doi: 10.1371/journal.pgen.1002481
-
(2012)
PLoS Genet.
, vol.8
-
-
Bañez-Coronel, M.1
Porta, S.2
Kagerbauer, B.3
Mateu-Huertas, E.4
Pantano, L.5
Ferrer, I.6
-
5
-
-
77953887860
-
Partners in crime: Bidirectional transcription in unstable microsatellite disease
-
doi: 10.1093/hmg/ddq132
-
Batra, R., Charizanis, K., and Swanson, M. S. (2010). Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum. Mol. Genet. 19, R77-R82. doi: 10.1093/hmg/ddq132
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Batra, R.1
Charizanis, K.2
Swanson, M.S.3
-
6
-
-
49249089029
-
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
-
doi: 10.1084/jem.20080178
-
Björkqvist, M., Wild, E. J., Thiele, J., Silvestroni, A., Andre, R., Lahiri, N., et al. (2008). A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J. Exp. Med. 205, 1869-1877. doi: 10.1084/jem.20080178
-
(2008)
J. Exp. Med.
, vol.205
, pp. 1869-1877
-
-
Björkqvist, M.1
Wild, E.J.2
Thiele, J.3
Silvestroni, A.4
Andre, R.5
Lahiri, N.6
-
7
-
-
84879461541
-
Two is better than one: A case of homozygous myotonic dystrophy type 1
-
doi: 10.1002/ajmg.a.35967
-
Carroll, J. M., Quaid, K. A., Stone, K., Jones, R., Schubert, F., and Griffith, C. B. (2013). Two is better than one: a case of homozygous myotonic dystrophy type 1. Am. J. Med. Genet. 161, 1763-1767. doi: 10.1002/ajmg.a.35967
-
(2013)
Am. J. Med. Genet.
, vol.161
, pp. 1763-1767
-
-
Carroll, J.M.1
Quaid, K.A.2
Stone, K.3
Jones, R.4
Schubert, F.5
Griffith, C.B.6
-
8
-
-
84861969926
-
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins
-
doi: 10.1016/j.cell.2012.04.031
-
Castello, A., Fischer, B., Eichelbaum, K., Horos, R., Beckmann, B. M., Strein, C., et al. (2012). Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 149, 1393-1406. doi: 10.1016/j.cell.2012.04.031
-
(2012)
Cell
, vol.149
, pp. 1393-1406
-
-
Castello, A.1
Fischer, B.2
Eichelbaum, K.3
Horos, R.4
Beckmann, B.M.5
Strein, C.6
-
9
-
-
79952619563
-
Toll-like receptor signaling in amyotrophic lateral sclerosis spinal cord tissue
-
doi: 10.1016/j.neuroscience.2011.02.001
-
Casula, M., Iyer, A. M., Spliet, W. G., Anink, J. J., Steentjes, K., Sta, M., et al. (2011). Toll-like receptor signaling in amyotrophic lateral sclerosis spinal cord tissue. Neuroscience 179, 233-243. doi: 10.1016/j.neuroscience.2011.02.001
-
(2011)
Neuroscience
, vol.179
, pp. 233-243
-
-
Casula, M.1
Iyer, A.M.2
Spliet, W.G.3
Anink, J.J.4
Steentjes, K.5
Sta, M.6
-
10
-
-
77950400643
-
Aicardi-Goutières syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity
-
doi: 10.1093/hmg/ddp293
-
Crow, Y. J., and Rehwinkel, J. (2009). Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum. Mol. Genet. 18, R130-R136. doi: 10.1093/hmg/ddp293
-
(2009)
Hum. Mol. Genet.
, vol.18
-
-
Crow, Y.J.1
Rehwinkel, J.2
-
11
-
-
0035900649
-
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
-
doi: 10.1016/S0092-8674(01)00566-9
-
Darnell, J. C., Jensen, K. B., Jin, P., Brown, V., Warren, S. T., and Darnell, R. B. (2001). Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107, 489-499. doi: 10.1016/S0092-8674(01)00566-9
-
(2001)
Cell
, vol.107
, pp. 489-499
-
-
Darnell, J.C.1
Jensen, K.B.2
Jin, P.3
Brown, V.4
Warren, S.T.5
Darnell, R.B.6
-
12
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation
-
doi: 10.1038/ng0193-31
-
De Boulle, K., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., et al. (1993). A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat. Genet. 3, 31-35. doi: 10.1038/ng0193-31
-
(1993)
Nat. Genet.
, vol.3
, pp. 31-35
-
-
de Boulle, K.1
Verkerk, A.J.M.H.2
Reyniers, E.3
Vits, L.4
Hendrickx, J.5
van Roy, B.6
-
13
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
doi: 10.1016/j.neuron.2011.09.011
-
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., et al. (2011). Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256. doi: 10.1016/j.neuron.2011.09.011
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
McKenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
-
14
-
-
77956155218
-
Ataxin-2 intermediate-length poly-glutamine expansions are associated with increased risk for ALS
-
doi: 10.1038/nature09320
-
Elden, A. C., Kim, H. J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., et al. (2010). Ataxin-2 intermediate-length poly-glutamine expansions are associated with increased risk for ALS. Nature 466, 1069-1075. doi: 10.1038/nature09320
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
Chen-Plotkin, A.S.4
Johnson, B.S.5
Fang, X.6
-
15
-
-
84878552569
-
RNA toxicity in polyglutamine disorders: Concepts, models, and progress of research
-
doi: 10.1007/s00109-013-1016-2
-
Fiszer, A., and Krzyzosiak, W. J. (2013). RNA toxicity in polyglutamine disorders: concepts, models, and progress of research. J. Mol. Med. 91, 683-691. doi: 10.1007/s00109-013-1016-2
-
(2013)
J. Mol. Med.
, vol.91
, pp. 683-691
-
-
Fiszer, A.1
Krzyzosiak, W.J.2
-
16
-
-
80755181230
-
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration
-
doi: 10.1523/JNEUROSCI.4000-11.2011
-
Furrer, S. A., Mohanachandran, M. S., Waldherr, S. M., Chang, C., Damian, V. A., Sopher, B. L., et al. (2011). Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration. J. Neurosci. 31, 16269-16278. doi: 10.1523/JNEUROSCI.4000-11.2011
-
(2011)
J. Neurosci.
, vol.31
, pp. 16269-16278
-
-
Furrer, S.A.1
Mohanachandran, M.S.2
Waldherr, S.M.3
Chang, C.4
Damian, V.A.5
Sopher, B.L.6
-
17
-
-
74049164709
-
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
-
doi: 10.1083/jcb.200908164
-
Ilieva, H., Polymenidou, M., and Cleveland, D. W. (2009). Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J. Cell Biol. 187, 761-772. doi: 10.1083/jcb.200908164
-
(2009)
J. Cell Biol.
, vol.187
, pp. 761-772
-
-
Ilieva, H.1
Polymenidou, M.2
Cleveland, D.W.3
-
18
-
-
84870480784
-
GSK3β mediates muscle pathology in myotonic dystrophy
-
doi: 10.1172/JCI64081
-
Jones, K., Wei, C., Iakova, P., Bugiardini, E., Schneider-Gold, C., Meola, G., et al. (2012). GSK3β mediates muscle pathology in myotonic dystrophy. J. Clin. Invest. 122, 4461-4472. doi: 10.1172/JCI64081
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 4461-4472
-
-
Jones, K.1
Wei, C.2
Iakova, P.3
Bugiardini, E.4
Schneider-Gold, C.5
Meola, G.6
-
19
-
-
80051549115
-
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
-
doi: 10.1016/j.ajhg.2011.05.015
-
Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., et al. (2011). Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89, 121-130. doi: 10.1016/j.ajhg.2011.05.015
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 121-130
-
-
Kobayashi, H.1
Abe, K.2
Matsuura, T.3
Ikeda, Y.4
Hitomi, T.5
Akechi, Y.6
-
20
-
-
0025800165
-
DNA instability at the fragile X maps to a trinucleotide repeat sequence p(CCG)n
-
doi: 10.1126/science.1675488
-
Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Warren, S., et al. (1991). DNA instability at the fragile X maps to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714. doi: 10.1126/science.1675488
-
(1991)
Science
, vol.252
, pp. 1711-1714
-
-
Kremer, E.1
Pritchard, M.2
Lynch, M.3
Yu, S.4
Holman, K.5
Warren, S.6
-
21
-
-
77949775195
-
Repeat expansion disease: Progress and puzzles in disease pathogenesis
-
doi: 10.1038/nrg2748
-
La Spada, A. R., and Taylor, J. P. (2010). Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat. Rev. Genet. 11, 247-258. doi: 10.1038/nrg2748
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 247-258
-
-
la Spada, A.R.1
Taylor, J.P.2
-
22
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
doi: 10.1038/352077a0
-
La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E., and Fischbeck, K. H. (1991). Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79. doi: 10.1038/352077a0
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
la Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
23
-
-
80052762993
-
Double stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases
-
doi: 10.1093/hmg/ddr292
-
Lawlor, K. T., O'Keefe, L. V., Samaraweera, S., van Eyk, C., McLeod, C. J., Maloney, C., et al. (2011). Double stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases. Hum. Mol. Genet. 20, 3757-3768. doi: 10.1093/hmg/ddr292
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3757-3768
-
-
Lawlor, K.T.1
O'Keefe, L.V.2
Samaraweera, S.3
van Eyk, C.4
McLeod, C.J.5
Maloney, C.6
-
24
-
-
84862023505
-
Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology
-
doi: 10.1371/journal.pone.0038516
-
Lawlor, K. T., O'Keefe, L. V., Samaraweera, S. E., van Eyk, C. L., and Richards, R. I. (2012). Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology. PLoS ONE 7:e38516. doi: 10.1371/journal.pone.0038516
-
(2012)
PLoS ONE
, vol.7
-
-
Lawlor, K.T.1
O'Keefe, L.V.2
Samaraweera, S.E.3
van Eyk, C.L.4
Richards, R.I.5
-
25
-
-
45749147456
-
RNA toxicity is a component of ataxin-3 degeneration in Drosophila
-
doi: 10.1038/nature06909
-
Li, L.-B., Yu, Z., Teng, X., and Bonini, N. M. (2008). RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 453, 1107-1111. doi: 10.1038/nature06909
-
(2008)
Nature
, vol.453
, pp. 1107-1111
-
-
Li, L.-B.1
Yu, Z.2
Teng, X.3
Bonini, N.M.4
-
26
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
doi: 10.1016/S1097-2765(02)00563-4
-
Mankodi, A., Takahashi, M. P., Jiang, H., Beck, C. L., Bowers, W. J., Moxley, R. T., et al. (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, 35-44. doi: 10.1016/S1097-2765(02)00563-4
-
(2002)
Mol. Cell
, vol.10
, 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
-
27
-
-
17744363882
-
The pathogenic agent inDrosophila models of 'polyglutamine' diseases
-
doi: 10.1093/hmg/ddi096
-
McLeod, C., O'Keefe, L., and Richards, R. I. (2005). The pathogenic agent inDrosophila models of 'polyglutamine' diseases. Hum. Mol. Genet. 14, 1041-1048. doi: 10.1093/hmg/ddi096
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1041-1048
-
-
McLeod, C.1
O'Keefe, L.2
Richards, R.I.3
-
28
-
-
33645747484
-
Elevated IL-6 and TNF-alpha levels in patients with ALS: Inflammation or hypoxia?
-
doi: 10.1212/01.wnl.0000188907.97339.76
-
Moreau, C., Devos, D., Brunaud-Danel, V., Defebvre, L., Perez, T., Destée, A., et al. (2005). Elevated IL-6 and TNF-alpha levels in patients with ALS: inflammation or hypoxia? Neurology 65, 1958-1960. doi: 10.1212/01.wnl.0000188907.97339.76
-
(2005)
Neurology
, vol.65
, pp. 1958-1960
-
-
Moreau, C.1
Devos, D.2
Brunaud-Danel, V.3
Defebvre, L.4
Perez, T.5
Destée, A.6
-
29
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
doi: 10.1126/science.1232927
-
Mori, K., Weng, S. M., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., et al. (2013). The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338. doi: 10.1126/science.1232927
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
-
30
-
-
80054842185
-
FTD and ALS: Genetic ties that bind
-
doi: 10.1016/j.neuron.2011.10.001
-
Orr, H. T. (2011). FTD and ALS: genetic ties that bind. Neuron 72, 189-190. doi: 10.1016/j.neuron.2011.10.001
-
(2011)
Neuron
, vol.72
, pp. 189-190
-
-
Orr, H.T.1
-
31
-
-
84875530060
-
N6-methyl-adenosine modification in messenger and long non-coding RNA
-
doi: 10.1016/j.tibs.2012.12.006
-
Pan, T. (2013). N6-methyl-adenosine modification in messenger and long non-coding RNA. Trends Biochem. Sci. 38, 204-209. doi: 10.1016/j.tibs.2012.12.006
-
(2013)
Trends Biochem. Sci.
, vol.38
, pp. 204-209
-
-
Pan, T.1
-
32
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
doi: 10.1016/0092-8674(91)90125-I
-
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822. doi: 10.1016/0092-8674(91)90125-I
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
-
33
-
-
80155157847
-
The seeds of neurodegeneration: Prion-like spreading in ALS
-
doi: 10.1016/j.cell.2011.10.011
-
Polymenidou, M., and Cleveland, D. W. (2011). The seeds of neurodegeneration: prion-like spreading in ALS. Cell 147, 498-508. doi: 10.1016/j.cell.2011.10.011
-
(2011)
Cell
, vol.147
, pp. 498-508
-
-
Polymenidou, M.1
Cleveland, D.W.2
-
34
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
doi: 10.1086/383590
-
Ranum, L. P., and Day, J. W. (2004). Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet. 74, 793-804. doi: 10.1086/383590
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
35
-
-
84880427394
-
A compendium of RNA-binding motifs for decoding gene regulation
-
doi: 10.1038/nature12311
-
Ray, D., Kazan, H., Cook, K. B., Weirauch, M. T., Najafabadi, H. S., Li, X., et al. (2013). A compendium of RNA-binding motifs for decoding gene regulation. Nature 499, 172-177. doi: 10.1038/nature12311
-
(2013)
Nature
, vol.499
, pp. 172-177
-
-
Ray, D.1
Kazan, H.2
Cook, K.B.3
Weirauch, M.T.4
Najafabadi, H.S.5
Li, X.6
-
36
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
doi: 10.1016/j.neuron.2011.09.010
-
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., et al. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268. doi: 10.1016/j.neuron.2011.09.010
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simón-Sánchez, J.4
Rollinson, S.5
Gibbs, J.R.6
-
37
-
-
0035475642
-
Dynamic mutations: A decade of unstable expanded repeats in human disease
-
doi: 10.1093/hmg/10.20.2187
-
Richards, R. I. (2001). Dynamic mutations: a decade of unstable expanded repeats in human disease Hum. Mol. Genet. 10, 2187-2194. doi: 10.1093/hmg/10.20.2187
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2187-2194
-
-
Richards, R.I.1
-
38
-
-
0026767610
-
Dynamic mutations: A new class of mutations causing human disease
-
doi: 10.1016/0092-8674(92)90302-S
-
Richards R. I., and Sutherland, G. R. (1992). Dynamic mutations: a new class of mutations causing human disease. Cell 70, 709-712. doi: 10.1016/0092-8674(92)90302-S
-
(1992)
Cell
, vol.70
, pp. 709-712
-
-
Richards, R.I.1
Sutherland, G.R.2
-
39
-
-
52949094629
-
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
-
doi: 10.1371/journal.pgen.1000193
-
Rutherford, N. J., Zhang, Y. J., Baker, M., Gass, J. M., Finch, N. A., Xu, Y. F., et al. (2008). Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet. 4:e1000193. doi: 10.1371/journal.pgen.1000193
-
(2008)
PLoS Genet.
, vol.4
-
-
Rutherford, N.J.1
Zhang, Y.J.2
Baker, M.3
Gass, J.M.4
Finch, N.A.5
Xu, Y.F.6
-
40
-
-
84880308992
-
Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases
-
doi: 10.1093/hmg/ddt130
-
Samaraweera, S. E., O'Keefe, L. V., Price, G. R., Venter, D. J., and Richards, R. I. (2013). Distinct roles for Toll and autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases. Hum. Mol. Genet. 22, 2811-2819. doi: 10.1093/hmg/ddt130
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2811-2819
-
-
Samaraweera, S.E.1
O'Keefe, L.V.2
Price, G.R.3
Venter, D.J.4
Richards, R.I.5
-
41
-
-
71849083831
-
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n
-
doi: 10.1016/j.ajhg.2009.09.019
-
Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., et al. (2009). Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85, 544-557. doi: 10.1016/j.ajhg.2009.09.019
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 544-557
-
-
Sato, N.1
Amino, T.2
Kobayashi, K.3
Asakawa, S.4
Ishiguro, T.5
Tsunemi, T.6
-
42
-
-
84880174102
-
Innate immunity and neuroinflammation
-
doi: 10.1155/2013/342931
-
Shastri, A., Bonfati, D. M., and Kishore, U. (2013). Innate immunity and neuroinflammation. Mediators Inflamm. 2013, 342931. doi: 10.1155/2013/342931
-
(2013)
Mediators Inflamm.
, vol.2013
, pp. 342931
-
-
Shastri, A.1
Bonfati, D.M.2
Kishore, U.3
-
43
-
-
79952618146
-
Innate and adaptive immunity in amyotrophic lateral sclerosis: Evidence of complement activation
-
doi: 10.1016/j.nbd.2011.01.002
-
Sta, M., Sylva-Steenland, R. M., Casula, M., de Jong, J. M., Troost, D., Aronica, E., et al. (2011). Innate and adaptive immunity in amyotrophic lateral sclerosis: evidence of complement activation. Neurobiol. Dis. 42, 211-220. doi: 10.1016/j.nbd.2011.01.002
-
(2011)
Neurobiol. Dis.
, vol.42
, pp. 211-220
-
-
Sta, M.1
Sylva-Steenland, R.M.2
Casula, M.3
de Jong, J.M.4
Troost, D.5
Aronica, E.6
-
44
-
-
68049113685
-
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
-
doi: 10.1093/hmg/ddp242
-
Swami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J., Myers, R. H., et al. (2009). Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum. Mol. Genet. 18, 3039-3047. doi: 10.1093/hmg/ddp242
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3039-3047
-
-
Swami, M.1
Hendricks, A.E.2
Gillis, T.3
Massood, T.4
Mysore, J.5
Myers, R.H.6
-
45
-
-
84877331220
-
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
-
doi: 10.1016/j.neuron.2013.03.026
-
Todd, P. K., Oh, S. Y., Krans, A., He, F., Sellier, C., Frazer, M., et al. (2013). CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78, 440-455. doi: 10.1016/j.neuron.2013.03.026
-
(2013)
Neuron
, vol.78
, pp. 440-455
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
He, F.4
Sellier, C.5
Frazer, M.6
-
46
-
-
84856097529
-
Comparative Toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease
-
doi: 10.1093/hmg/ddr487
-
van Eyk, C., McLeod, C. J., O'Keefe, L. V., and Richards, R. I. (2012). Comparative Toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease. Hum. Mol. Genet. 21, 536-547. doi: 10.1093/hmg/ddr487
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 536-547
-
-
van Eyk, C.1
McLeod, C.J.2
O'Keefe, L.V.3
Richards, R.I.4
-
47
-
-
79959781166
-
Perturbation of the Akt/Gsk3-β signalling pathway is common toDrosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
-
doi: 10.1093/hmg/ddr177
-
van Eyk, C. L., O'Keefe, L. V., Lawlor, K. T., Samaraweera, S. E., McLeod, C. J., Price, G. R., et al. (2011). Perturbation of the Akt/Gsk3-β signalling pathway is common toDrosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Hum. Mol. Genet. 20, 2783-2794. doi: 10.1093/hmg/ddr177
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2783-2794
-
-
van Eyk, C.L.1
O'Keefe, L.V.2
Lawlor, K.T.3
Samaraweera, S.E.4
McLeod, C.J.5
Price, G.R.6
-
48
-
-
76349115779
-
Genetic contribution of FUS to frontotemporal lobar degeneration
-
doi: 10.1212/WNL.0b013e3181ccc732
-
Van Langenhove, T., van der Zee, J., Sleegers, K., Engelborghs, S., Vandenberghe, R., Gijselinck, I., et al. (2010). Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 74, 366-371. doi: 10.1212/WNL.0b013e3181ccc732
-
(2010)
Neurology
, vol.74
, pp. 366-371
-
-
van Langenhove, T.1
van der Zee, J.2
Sleegers, K.3
Engelborghs, S.4
Vandenberghe, R.5
Gijselinck, I.6
-
49
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
doi: 10.1016/0092-8674(91)90397-H
-
Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914. doi: 10.1016/0092-8674(91)90397-H
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
-
50
-
-
77958536106
-
Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA
-
doi: 10.1016/j.stem.2010.08.012
-
Warren, L., Manos, P. D., Ahfeldt, T., Loh, Y. H., Li, H., Lau, F., et al. (2007). Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 7, 618-630. doi: 10.1016/j.stem.2010.08.012
-
(2007)
Cell Stem Cell
, vol.7
, pp. 618-630
-
-
Warren, L.1
Manos, P.D.2
Ahfeldt, T.3
Loh, Y.H.4
Li, H.5
Lau, F.6
-
51
-
-
84855975733
-
Abnormal peripheral chemokine profile in Huntington's disease
-
doi: 10.1371/currents.RRN1231
-
Wild, E., Magnussen, A., Lahiri, N., Krus, U., Orth, M., Tabrizi, S. J., et al. (2011). Abnormal peripheral chemokine profile in Huntington's disease. PLoS Curr. 3:RRN1231. doi: 10.1371/currents.RRN1231
-
(2011)
PLoS Curr.
, vol.3
-
-
Wild, E.1
Magnussen, A.2
Lahiri, N.3
Krus, U.4
Orth, M.5
Tabrizi, S.J.6
-
52
-
-
0026347628
-
The fragile X genotype is characterized by an unstable region of DNA
-
doi: 10.1126/science.252.5009.1179
-
Yu, S., Kremer, E., Pritchard, M., Lynch, M., Nancarrow, J., Baker, E., et al. (1991). The fragile X genotype is characterized by an unstable region of DNA. Science 252, 1179-1182. doi: 10.1126/science.252.5009.1179
-
(1991)
Science
, vol.252
, pp. 1179-1182
-
-
Yu, S.1
Kremer, E.2
Pritchard, M.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
-
53
-
-
79953762028
-
Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy
-
doi: 10.1371/journal.pgen.1001340
-
Yu, Z., Teng, X., and Bonini, N. M. (2011). Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet. 7:e1001340. doi: 10.1371/journal.pgen.1001340
-
(2011)
PLoS Genet.
, vol.7
-
-
Yu, Z.1
Teng, X.2
Bonini, N.M.3
-
54
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
doi: 10.1073/pnas.1013343108
-
Zu, T., Gibbens, B., Doty, N. S., Gomes-Pereira, M., Huguet, A., Stone, M. D., et al. (2011). Non-ATG-initiated translation directed by microsatellite expansions. Proc. Natl. Acad. Sci. U.S.A. 108, 260-265. doi: 10.1073/pnas.1013343108
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 260-265
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
Gomes-Pereira, M.4
Huguet, A.5
Stone, M.D.6
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