-
1
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
COI: 1:CAS:528:DC%2BD1cXitVemsr4%3D, PID: 18045775
-
Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M (2008) The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17:735–746. doi:10.1093/hmg/ddm346
-
(2008)
Hum Mol Genet
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
Varshney, D.4
Lymperi, S.5
Sandi, C.6
Trabzuni, D.7
Pook, M.8
-
2
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
COI: 1:CAS:528:DC%2BC3sXisVGrtr0%3D, PID: 23415312
-
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77:639–646. doi:10.1016/j.neuron.2013.02.004
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
van Blitterswijk, M.M.7
Jansen-West, K.8
Paul, J.W.9
Rademakers, R.10
Boylan, K.B.11
Dickson, D.W.12
Petrucelli, L.13
-
3
-
-
0025970882
-
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome
-
COI: 1:CAS:528:DyaK3MXhtlOhtL4%3D, PID: 1997211
-
Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, Jacobs PA, Tommerup N, Tranebjaerg L, Froster-Iskenius U et al (1991) Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 64:861–866
-
(1991)
Cell
, vol.64
, pp. 861-866
-
-
Bell, M.V.1
Hirst, M.C.2
Nakahori, Y.3
MacKinnon, R.N.4
Roche, A.5
Flint, T.J.6
Jacobs, P.A.7
Tommerup, N.8
Tranebjaerg, L.9
Froster-Iskenius, U.10
-
4
-
-
84907681995
-
Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients
-
COI: 1:CAS:528:DC%2BC2cXjslKis7k%3D, PID: 24530272
-
Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L (2014) Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res 1584:15–21. doi:10.1016/j.brainres.2014.02.015
-
(2014)
Brain Res
, vol.1584
, pp. 15-21
-
-
Belzil, V.V.1
Bauer, P.O.2
Gendron, T.F.3
Murray, M.E.4
Dickson, D.5
Petrucelli, L.6
-
5
-
-
0034574407
-
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
-
COI: 1:STN:280:DC%2BD3Mvhs1Ghsg%3D%3D, PID: 11464847
-
Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293–299
-
(2000)
Amyotroph Lateral Scler Other Motor Neuron Disord
, vol.1
, pp. 293-299
-
-
Brooks, B.R.1
Miller, R.G.2
Swash, M.3
Munsat, T.L.4
-
6
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis
-
COI: 1:CAS:528:DC%2BC3sXhsFGgt7zO, PID: 23720273
-
Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E (2013) Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis. Ann Neurol 74:180–187. doi:10.1002/ana.23946
-
(2013)
Ann Neurol
, vol.74
, pp. 180-187
-
-
Ciura, S.1
Lattante, S.2
Le Ber, I.3
Latouche, M.4
Tostivint, H.5
Brice, A.6
Kabashi, E.7
-
7
-
-
0028223015
-
The Lund and Manchester Groups
-
(1994) Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 57:416–418
-
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 416-418
-
-
-
8
-
-
84888223043
-
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles
-
PID: 24107864
-
Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, Ninkina N, Buchman VL, Shaw PJ (2013) C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology 81:1719–1721. doi:10.1212/01.wnl.0000435295.41974.2e
-
(2013)
Neurology
, vol.81
, pp. 1719-1721
-
-
Cooper-Knock, J.1
Higginbottom, A.2
Connor-Robson, N.3
Bayatti, N.4
Bury, J.J.5
Kirby, J.6
Ninkina, N.7
Buchman, V.L.8
Shaw, P.J.9
-
9
-
-
84921640769
-
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
-
PID: 24950788
-
Davidson YS, Barker H, Robinson AC, Thompson JC, Harris J, Troakes C, Smith B, Al-Saraj S, Shaw C, Rollinson S, Masuda-Suzukake M, Hasegawa M, Pickering-Brown S, Snowden JS, Mann DM (2014) Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 2:70. doi:10.1186/2051-5960-2-70
-
(2014)
Acta Neuropathol Commun
, vol.2
, pp. 70
-
-
Davidson, Y.S.1
Barker, H.2
Robinson, A.C.3
Thompson, J.C.4
Harris, J.5
Troakes, C.6
Smith, B.7
Al-Saraj, S.8
Shaw, C.9
Rollinson, S.10
Masuda-Suzukake, M.11
Hasegawa, M.12
Pickering-Brown, S.13
Snowden, J.S.14
Mann, D.M.15
-
10
-
-
79961029908
-
DNA secondary structures and epigenetic determinants of cancer genome evolution
-
COI: 1:CAS:528:DC%2BC3MXotlCms7g%3D, PID: 21725294
-
De S, Michor F (2011) DNA secondary structures and epigenetic determinants of cancer genome evolution. Nat Struct Mol Biol 18:950–955. doi:10.1038/nsmb.2089
-
(2011)
Nat Struct Mol Biol
, vol.18
, pp. 950-955
-
-
De, S.1
Michor, F.2
-
11
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
COI: 1:CAS:528:DC%2BC3MXhtlKrtL%2FP, PID: 21944778
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256. doi:10.1016/j.neuron.2011.09.011
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
Kouri, N.11
Wojtas, A.12
Sengdy, P.13
Hsiung, G.Y.14
Karydas, A.15
Seeley, W.W.16
Josephs, K.A.17
Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
more..
-
12
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
COI: 1:CAS:528:DC%2BC3sXhs1CrurfK, PID: 24139042
-
Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415–428. doi:10.1016/j.neuron.2013.10.015
-
(2013)
Neuron
, vol.80
, pp. 415-428
-
-
Donnelly, C.J.1
Zhang, P.W.2
Pham, J.T.3
Haeusler, A.R.4
Mistry, N.A.5
Vidensky, S.6
Daley, E.L.7
Poth, E.M.8
Hoover, B.9
Fines, D.M.10
Maragakis, N.11
Tienari, P.J.12
Petrucelli, L.13
Traynor, B.J.14
Wang, J.15
Rigo, F.16
Bennett, C.F.17
Blackshaw, S.18
Sattler, R.19
Rothstein, J.D.20
more..
-
13
-
-
84857045643
-
FXN methylation predicts expression and clinical outcome in Friedreich ataxia
-
COI: 1:CAS:528:DC%2BC38XlslyhsLs%3D, PID: 22522441
-
Evans-Galea MV, Carrodus N, Rowley SM, Corben LA, Tai G, Saffery R, Galati JC, Wong NC, Craig JM, Lynch DR, Regner SR, Brocht AF, Perlman SL, Bushara KO, Gomez CM, Wilmot GR, Li L, Varley E, Delatycki MB, Sarsero JP (2012) FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol 71:487–497. doi:10.1002/ana.22671
-
(2012)
Ann Neurol
, vol.71
, pp. 487-497
-
-
Evans-Galea, M.V.1
Carrodus, N.2
Rowley, S.M.3
Corben, L.A.4
Tai, G.5
Saffery, R.6
Galati, J.C.7
Wong, N.C.8
Craig, J.M.9
Lynch, D.R.10
Regner, S.R.11
Brocht, A.F.12
Perlman, S.L.13
Bushara, K.O.14
Gomez, C.M.15
Wilmot, G.R.16
Li, L.17
Varley, E.18
Delatycki, M.B.19
Sarsero, J.P.20
more..
-
14
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
PID: 23264878
-
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2:1016. doi:10.1038/srep01016
-
(2012)
Sci Rep
, vol.2
, pp. 1016
-
-
Fratta, P.1
Mizielinska, S.2
Nicoll, A.J.3
Zloh, M.4
Fisher, E.M.5
Parkinson, G.6
Isaacs, A.M.7
-
15
-
-
84920417120
-
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
-
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM (2014) Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging 36(546):e541–e547. doi:10.1016/j.neurobiolaging.2014.07.037
-
(2014)
Neurobiol Aging
, vol.36
, Issue.546
, pp. 541-547
-
-
Fratta, P.1
Polke, J.M.2
Newcombe, J.3
Mizielinska, S.4
Lashley, T.5
Poulter, M.6
Beck, J.7
Preza, E.8
Devoy, A.9
Sidle, K.10
Howard, R.11
Malaspina, A.12
Orrell, R.W.13
Clarke, J.14
Lu, C.H.15
Mok, K.16
Collins, T.17
Shoaii, M.18
Nanji, T.19
Wray, S.20
Adamson, G.21
Pittman, A.22
Renton, A.E.23
Traynor, B.J.24
Sweeney, M.G.25
Revesz, T.26
Houlden, H.27
Mead, S.28
Isaacs, A.M.29
Fisher, E.M.30
more..
-
16
-
-
84883460229
-
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
-
COI: 1:CAS:528:DC%2BC3sXhtlyjtrjM, PID: 23818065
-
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S (2013) Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol 126:401–409. doi:10.1007/s00401-013-1147-0
-
(2013)
Acta Neuropathol
, vol.126
, pp. 401-409
-
-
Fratta, P.1
Poulter, M.2
Lashley, T.3
Rohrer, J.D.4
Polke, J.M.5
Beck, J.6
Ryan, N.7
Hensman, D.8
Mizielinska, S.9
Waite, A.J.10
Lai, M.C.11
Gendron, T.F.12
Petrucelli, L.13
Fisher, E.M.14
Revesz, T.15
Warren, J.D.16
Collinge, J.17
Isaacs, A.M.18
Mead, S.19
-
17
-
-
84892590289
-
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
COI: 1:CAS:528:DC%2BC3sXhs1ehtLbF, PID: 24129584
-
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126:829–844. doi:10.1007/s00401-013-1192-8
-
(2013)
Acta Neuropathol
, vol.126
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.J.3
Jansen-West, K.4
Ash, P.E.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
Cosio, D.M.11
van Blitterswijk, M.12
Lee, W.C.13
Rademakers, R.14
Boylan, K.B.15
Dickson, D.W.16
Petrucelli, L.17
-
18
-
-
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
-
COI: 1:CAS:528:DC%2BC3MXhs1CisLzJ, PID: 22154785
-
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11:54–65. doi:10.1016/S1474-4422(11)70261-7
-
(2012)
Lancet Neurol
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
van der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
Engelborghs, S.11
Sieben, A.12
De Jonghe, P.13
Vandenberghe, R.14
Santens, P.15
De Bleecker, J.16
Maes, G.17
Baumer, V.18
Dillen, L.19
Joris, G.20
Cuijt, I.21
Corsmit, E.22
Elinck, E.23
Van Dongen, J.24
Vermeulen, S.25
Van den Broeck, M.26
Vaerenberg, C.27
Mattheijssens, M.28
Peeters, K.29
Robberecht, W.30
Cras, P.31
Martin, J.J.32
De Deyn, P.P.33
Cruts, M.34
Van Broeckhoven, C.35
more..
-
19
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
COI: 1:CAS:528:DC%2BD2sXnvVaiur8%3D, PID: 17478498
-
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K (2007) Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 35:3383–3390. doi:10.1093/nar/gkm271
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
20
-
-
84896259966
-
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
-
COI: 1:CAS:528:DC%2BC2cXktV2rt7s%3D, PID: 24598541
-
Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507:195–200. doi:10.1038/nature13124
-
(2014)
Nature
, vol.507
, pp. 195-200
-
-
Haeusler, A.R.1
Donnelly, C.J.2
Periz, G.3
Simko, E.A.4
Shaw, P.G.5
Kim, M.S.6
Maragakis, N.J.7
Troncoso, J.C.8
Pandey, A.9
Sattler, R.10
Rothstein, J.D.11
Wang, J.12
-
21
-
-
78149435311
-
Guanine quadruplex DNA structure restricts methylation of CpG dinucleotides genome-wide
-
COI: 1:CAS:528:DC%2BC3cXhtl2rtrjJ, PID: 20877913
-
Halder R, Halder K, Sharma P, Garg G, Sengupta S, Chowdhury S (2010) Guanine quadruplex DNA structure restricts methylation of CpG dinucleotides genome-wide. Mol BioSyst 6:2439–2447. doi:10.1039/c0mb00009d
-
(2010)
Mol BioSyst
, vol.6
, pp. 2439-2447
-
-
Halder, R.1
Halder, K.2
Sharma, P.3
Garg, G.4
Sengupta, S.5
Chowdhury, S.6
-
22
-
-
84908378481
-
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not
-
Hardy J, Rogaeva E (2013) Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Exp Neurol 262 Pt B:75–83. doi:10.1016/j.expneurol.2013.11.006
-
(2013)
Exp Neurol 262 Pt B
, pp. 75-83
-
-
Hardy, J.1
Rogaeva, E.2
-
23
-
-
0029843950
-
Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands
-
COI: 1:CAS:528:DyaK28XlsFeht7Y%3D, PID: 8790415
-
Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB (1996) Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93:9821–9826
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 9821-9826
-
-
Herman, J.G.1
Graff, J.R.2
Myohanen, S.3
Nelkin, B.D.4
Baylin, S.B.5
-
24
-
-
0035940582
-
Improved accuracy of clinical diagnosis of Lewy body Parkinson’s disease
-
COI: 1:STN:280:DC%2BD3MrmslCltA%3D%3D, PID: 11673599
-
Hughes AJ, Daniel SE, Lees AJ (2001) Improved accuracy of clinical diagnosis of Lewy body Parkinson’s disease. Neurology 57:1497–1499
-
(2001)
Neurology
, vol.57
, pp. 1497-1499
-
-
Hughes, A.J.1
Daniel, S.E.2
Lees, A.J.3
-
25
-
-
0035839057
-
The role of DNA methylation in mammalian epigenetics
-
COI: 1:CAS:528:DC%2BD3MXmtVWlsbY%3D, PID: 11498573
-
Jones PA, Takai D (2001) The role of DNA methylation in mammalian epigenetics. Science 293:1068–1070. doi:10.1126/science.1063852
-
(2001)
Science
, vol.293
, pp. 1068-1070
-
-
Jones, P.A.1
Takai, D.2
-
26
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
COI: 1:CAS:528:DyaK2sXkvFCht7w%3D, PID: 9241282
-
Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 16:402–406. doi:10.1038/ng0897-402
-
(1997)
Nat Genet
, vol.16
, pp. 402-406
-
-
Klesert, T.R.1
Otten, A.D.2
Bird, T.D.3
Tapscott, S.J.4
-
27
-
-
0033047455
-
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
-
COI: 1:CAS:528:DyaK1MXjs1Wlsrg%3D, PID: 10332033
-
Korade-Mirnics Z, Tarleton J, Servidei S, Casey RR, Gennarelli M, Pegoraro E, Angelini C, Hoffman EP (1999) Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Hum Mol Genet 8:1017–1023
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1017-1023
-
-
Korade-Mirnics, Z.1
Tarleton, J.2
Servidei, S.3
Casey, R.R.4
Gennarelli, M.5
Pegoraro, E.6
Angelini, C.7
Hoffman, E.P.8
-
28
-
-
84888098632
-
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
-
COI: 1:CAS:528:DC%2BC3sXhvFCisL3N, PID: 24170860
-
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci USA 110:E4530–E4539. doi:10.1073/pnas.1318835110
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 4530-4539
-
-
Lagier-Tourenne, C.1
Baughn, M.2
Rigo, F.3
Sun, S.4
Liu, P.5
Li, H.R.6
Jiang, J.7
Watt, A.T.8
Chun, S.9
Katz, M.10
Qiu, J.11
Sun, Y.12
Ling, S.C.13
Zhu, Q.14
Polymenidou, M.15
Drenner, K.16
Artates, J.W.17
McAlonis-Downes, M.18
Markmiller, S.19
Hutt, K.R.20
Pizzo, D.P.21
Cady, J.22
Harms, M.B.23
Baloh, R.H.24
Vandenberg, S.R.25
Yeo, G.W.26
Fu, X.D.27
Bennett, C.F.28
Cleveland, D.W.29
Ravits, J.30
more..
-
29
-
-
0036856355
-
MethPrimer: designing primers for methylation PCRs
-
COI: 1:CAS:528:DC%2BD38XosFOhtb0%3D, PID: 12424112
-
Li LC, Dahiya R (2002) MethPrimer: designing primers for methylation PCRs. Bioinformatics 18:1427–1431
-
(2002)
Bioinformatics
, vol.18
, pp. 1427-1431
-
-
Li, L.C.1
Dahiya, R.2
-
30
-
-
84939886575
-
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
-
COI: 1:CAS:528:DC%2BC2cXnvVSrtr8%3D, PID: 24806409
-
Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB (2014) C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. Acta Neuropathol 128:525–541. doi:10.1007/s00401-014-1286-y
-
(2014)
Acta Neuropathol
, vol.128
, pp. 525-541
-
-
Liu, E.Y.1
Russ, J.2
Wu, K.3
Neal, D.4
Suh, E.5
McNally, A.G.6
Irwin, D.J.7
Van Deerlin, V.M.8
Lee, E.B.9
-
31
-
-
84876862930
-
The G4 genome
-
COI: 1:CAS:528:DC%2BC3sXnt1ejtbg%3D, PID: 23637633
-
Maizels N, Gray LT (2013) The G4 genome. PLoS Genet 9:e1003468. doi:10.1371/journal.pgen.1003468
-
(2013)
PLoS Genet
, vol.9
, pp. 1003468
-
-
Maizels, N.1
Gray, L.T.2
-
32
-
-
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
-
PID: 24252525
-
Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1:68. doi:10.1186/2051-5960-1-68
-
(2013)
Acta Neuropathol Commun
, vol.1
, pp. 68
-
-
Mann, D.M.1
Rollinson, S.2
Robinson, A.3
Bennion Callister, J.4
Thompson, J.C.5
Snowden, J.S.6
Gendron, T.7
Petrucelli, L.8
Masuda-Suzukake, M.9
Hasegawa, M.10
Davidson, Y.11
Pickering-Brown, S.12
-
33
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
COI: 1:CAS:528:DC%2BC3sXhs1yru73E, PID: 24170096
-
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM (2013) C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol 126:845–857. doi:10.1007/s00401-013-1200-z
-
(2013)
Acta Neuropathol
, vol.126
, pp. 845-857
-
-
Mizielinska, S.1
Lashley, T.2
Norona, F.E.3
Clayton, E.L.4
Ridler, C.E.5
Fratta, P.6
Isaacs, A.M.7
-
34
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
COI: 1:CAS:528:DC%2BC3sXhs1Kisb3K, PID: 24132570
-
Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126:881–893. doi:10.1007/s00401-013-1189-3
-
(2013)
Acta Neuropathol
, vol.126
, pp. 881-893
-
-
Mori, K.1
Arzberger, T.2
Grasser, F.A.3
Gijselinck, I.4
May, S.5
Rentzsch, K.6
Weng, S.M.7
Schludi, M.H.8
van der Zee, J.9
Cruts, M.10
Van Broeckhoven, C.11
Kremmer, E.12
Kretzschmar, H.A.13
Haass, C.14
Edbauer, D.15
-
35
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
COI: 1:CAS:528:DC%2BC3sXjvVaqtLw%3D, PID: 23393093
-
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339:1335–1338. 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
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
Haass, C.11
Edbauer, D.12
-
36
-
-
71849115415
-
A distinct DNA-methylation boundary in the 5′-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome
-
COI: 1:CAS:528:DC%2BC3cXksFWrug%3D%3D, PID: 19853235
-
Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W (2009) A distinct DNA-methylation boundary in the 5′-upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. Am J Hum Genet 85:606–616. doi:10.1016/j.ajhg.2009.09.018
-
(2009)
Am J Hum Genet
, vol.85
, pp. 606-616
-
-
Naumann, A.1
Hochstein, N.2
Weber, S.3
Fanning, E.4
Doerfler, W.5
-
37
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
COI: 1:CAS:528:DyaK3MXlslKmsrc%3D, PID: 1878973
-
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817–822
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
38
-
-
84896723405
-
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
-
COI: 1:CAS:528:DC%2BC2cXhsFGju78%3D, PID: 24445903
-
Proudfoot M, Gutowski NJ, Edbauer D, Hilton DA, Stephens M, Rankin J, Mackenzie IR (2014) Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta Neuropathol 127:451–458. doi:10.1007/s00401-014-1245-7
-
(2014)
Acta Neuropathol
, vol.127
, pp. 451-458
-
-
Proudfoot, M.1
Gutowski, N.J.2
Edbauer, D.3
Hilton, D.A.4
Stephens, M.5
Rankin, J.6
Mackenzie, I.R.7
-
39
-
-
84858620858
-
C9orf72 repeat expansions in patients with ALS and FTD
-
PID: 22406229
-
Rademakers R (2012) C9orf72 repeat expansions in patients with ALS and FTD. Lancet Neurol 11:297–298. doi:10.1016/S1474-4422(12)70046-7
-
(2012)
Lancet Neurol
, vol.11
, pp. 297-298
-
-
Rademakers, R.1
-
40
-
-
84875981640
-
The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
-
COI: 1:CAS:528:DC%2BC3sXlsVGitLo%3D, PID: 23423380
-
Reddy K, Zamiri B, Stanley SY, Macgregor RB Jr, Pearson CE (2013) The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J Biol Chem 288:9860–9866. doi:10.1074/jbc.C113.452532
-
(2013)
J Biol Chem
, vol.288
, pp. 9860-9866
-
-
Reddy, K.1
Zamiri, B.2
Stanley, S.Y.3
Macgregor, R.B.4
Pearson, C.E.5
-
41
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
COI: 1:CAS:528:DC%2BC3MXhtlKrtL%2FI, PID: 21944779
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268. 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
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
Kalimo, H.11
Paetau, A.12
Abramzon, Y.13
Remes, A.M.14
Kaganovich, A.15
Scholz, S.W.16
Duckworth, J.17
Ding, J.18
Harmer, D.W.19
Hernandez, D.G.20
Johnson, J.O.21
Mok, K.22
Ryten, M.23
Trabzuni, D.24
Guerreiro, R.J.25
Orrell, R.W.26
Neal, J.27
Murray, A.28
Pearson, J.29
Jansen, I.E.30
Sondervan, D.31
Seelaar, H.32
Blake, D.33
Young, K.34
Halliwell, N.35
Callister, J.B.36
Toulson, G.37
Richardson, A.38
Gerhard, A.39
Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.M.46
Kaivorinne, A.L.47
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chio, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
more..
-
42
-
-
84928157416
-
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
-
PID: 25388784
-
Russ J, Liu EY, Wu K, Neal D, Suh E, Irwin DJ, McMillan CT, Harms MB, Cairns NJ, Wood EM, Xie SX, Elman L, McCluskey L, Grossman M, Van Deerlin VM, Lee EB (2014) Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier. Acta Neuropathol 129:39–52. doi:10.1007/s00401-014-1365-0
-
(2014)
Acta Neuropathol
, vol.129
, pp. 39-52
-
-
Russ, J.1
Liu, E.Y.2
Wu, K.3
Neal, D.4
Suh, E.5
Irwin, D.J.6
McMillan, C.T.7
Harms, M.B.8
Cairns, N.J.9
Wood, E.M.10
Xie, S.X.11
Elman, L.12
McCluskey, L.13
Grossman, M.14
Van Deerlin, V.M.15
Lee, E.B.16
-
43
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
COI: 1:CAS:528:DyaK38XmtFSitbw%3D, PID: 1301913
-
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1:397–400
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
44
-
-
84892597871
-
Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans
-
PID: 24349511
-
Therrien M, Rouleau GA, Dion PA, Parker JA (2013) Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans. PLoS One 8:e83450. doi:10.1371/journal.pone.0083450
-
(2013)
PLoS One
, vol.8
, pp. 83450
-
-
Therrien, M.1
Rouleau, G.A.2
Dion, P.A.3
Parker, J.A.4
-
45
-
-
0030861573
-
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
-
COI: 1:CAS:528:DyaK2sXkvFCht70%3D, PID: 9241283
-
Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT 3rd (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 16:407–409. doi:10.1038/ng0897-407
-
(1997)
Nat Genet
, vol.16
, pp. 407-409
-
-
Thornton, C.A.1
Wymer, J.P.2
Simmons, Z.3
McClain, C.4
Moxley, R.T.5
-
46
-
-
84866490231
-
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum
-
PID: 22420316
-
Van Langenhove T, van der Zee J, Van Broeckhoven C (2012) The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med 44:817–828. doi:10.3109/07853890.2012.665471
-
(2012)
Ann Med
, vol.44
, pp. 817-828
-
-
Van Langenhove, T.1
van der Zee, J.2
Van Broeckhoven, C.3
-
47
-
-
85056706559
-
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
-
Waite AJ, Baumer D, East S, Neal J, Morris HR, Ansorge O, Blake DJ (2014) Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging 35:1779 e1775–1779 e1713. doi:10.1016/j.neurobiolaging.2014.01.016
-
(2014)
Neurobiol Aging 35:1779
, vol.e1713
, pp. 1775-1779
-
-
Waite, A.J.1
Baumer, D.2
East, S.3
Neal, J.4
Morris, H.R.5
Ansorge, O.6
Blake, D.J.7
-
48
-
-
0030462492
-
A general method for the detection of large CAG repeat expansions by fluorescent PCR
-
COI: 1:CAS:528:DyaK2sXhtFGju7g%3D, PID: 9004136
-
Warner JP, Barron LH, Goudie D, Kelly K, Dow D, Fitzpatrick DR, Brock DJ (1996) A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 33:1022–1026
-
(1996)
J Med Genet
, vol.33
, pp. 1022-1026
-
-
Warner, J.P.1
Barron, L.H.2
Goudie, D.3
Kelly, K.4
Dow, D.5
Fitzpatrick, D.R.6
Brock, D.J.7
-
49
-
-
84911382953
-
Hypermethylation of the CpG-island near the C9orf72 G(4)C(2)-repeat expansion in FTLD patients
-
PID: 24908669
-
Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E (2014) Hypermethylation of the CpG-island near the C9orf72 G(4)C(2)-repeat expansion in FTLD patients. Hum Mol Genet 23:5630–5637. doi:10.1093/hmg/ddu279
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5630-5637
-
-
Xi, Z.1
Rainero, I.2
Rubino, E.3
Pinessi, L.4
Bruni, A.C.5
Maletta, R.G.6
Nacmias, B.7
Sorbi, S.8
Galimberti, D.9
Surace, E.I.10
Zheng, Y.11
Moreno, D.12
Sato, C.13
Liang, Y.14
Zhou, Y.15
Robertson, J.16
Zinman, L.17
Tartaglia, M.C.18
St George-Hyslop, P.19
Rogaeva, E.20
more..
-
50
-
-
84920504317
-
Identical twins with the C9orf72 repeat expansion are discordant for ALS
-
PID: 25209579
-
Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E (2014) Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology 83:1476–1478. doi:10.1212/WNL.0000000000000886
-
(2014)
Neurology
, vol.83
, pp. 1476-1478
-
-
Xi, Z.1
Yunusova, Y.2
van Blitterswijk, M.3
Dib, S.4
Ghani, M.5
Moreno, D.6
Sato, C.7
Liang, Y.8
Singleton, A.9
Robertson, J.10
Rademakers, R.11
Zinman, L.12
Rogaeva, E.13
-
51
-
-
84871243649
-
Investigation of c9orf72 in 4 neurodegenerative disorders
-
PID: 22964832
-
Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernandez I, Ruiz A, Boada M, Moron FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimon J, Mayeux R, Robertson J, StGeorge-Hyslop P, Rogaeva E (2012) Investigation of c9orf72 in 4 neurodegenerative disorders. Arch Neurol 69:1583–1590. doi:10.1001/archneurol.2012.2016
-
(2012)
Arch Neurol
, vol.69
, pp. 1583-1590
-
-
Xi, Z.1
Zinman, L.2
Grinberg, Y.3
Moreno, D.4
Sato, C.5
Bilbao, J.M.6
Ghani, M.7
Hernandez, I.8
Ruiz, A.9
Boada, M.10
Moron, F.J.11
Lang, A.E.12
Marras, C.13
Bruni, A.14
Colao, R.15
Maletta, R.G.16
Puccio, G.17
Rainero, I.18
Pinessi, L.19
Galimberti, D.20
Morrison, K.E.21
Moorby, C.22
Stockton, J.D.23
Masellis, M.24
Black, S.E.25
Hazrati, L.N.26
Liang, Y.27
van Haersma de With, J.28
Fornazzari, L.29
Villagra, R.30
Rojas-Garcia, R.31
Clarimon, J.32
Mayeux, R.33
Robertson, J.34
StGeorge-Hyslop, P.35
Rogaeva, E.36
more..
-
52
-
-
84878863605
-
Hypermethylation of the CpG Island near the GC repeat in ALS with a C9orf72 expansion
-
COI: 1:CAS:528:DC%2BC3sXotlCqurY%3D, PID: 23731538
-
Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E (2013) Hypermethylation of the CpG Island near the GC repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92:981–989. doi:10.1016/j.ajhg.2013.04.017
-
(2013)
Am J Hum Genet
, vol.92
, pp. 981-989
-
-
Xi, Z.1
Zinman, L.2
Moreno, D.3
Schymick, J.4
Liang, Y.5
Sato, C.6
Zheng, Y.7
Ghani, M.8
Dib, S.9
Keith, J.10
Robertson, J.11
Rogaeva, E.12
-
53
-
-
33746625983
-
Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis
-
COI: 1:CAS:528:DC%2BD28XnvFaht78%3D, PID: 16793928
-
Zhou Y, Lum JM, Yeo GH, Kiing J, Tay SK, Chong SS (2006) Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis. Clin Chem 52:1492–1500. doi:10.1373/clinchem.2006.068593
-
(2006)
Clin Chem
, vol.52
, pp. 1492-1500
-
-
Zhou, Y.1
Lum, J.M.2
Yeo, G.H.3
Kiing, J.4
Tay, S.K.5
Chong, S.S.6
-
54
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
COI: 1:CAS:528:DC%2BC2cXnsV2gtg%3D%3D, PID: 24248382
-
Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA 110:E4968–E4977. doi:10.1073/pnas.1315438110
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 4968-4977
-
-
Zu, T.1
Liu, Y.2
Banez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
Ostrow, L.W.11
Rothstein, J.D.12
Troncoso, J.C.13
Ranum, L.P.14
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