-
1
-
-
84883465132
-
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
-
Almeida S., Gascon E., Tran H., Chou H.J., Gendron T.F., Degroot S., Tapper A.R., Sellier C., Charlet-Berguerand N., Karydas A., et al. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol. 2013, 126:385-399.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 385-399
-
-
Almeida, S.1
Gascon, E.2
Tran, H.3
Chou, H.J.4
Gendron, T.F.5
Degroot, S.6
Tapper, A.R.7
Sellier, C.8
Charlet-Berguerand, N.9
Karydas, A.10
-
2
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash P.E., Bieniek K.F., Gendron T.F., Caulfield T., Lin W.L., Dejesus-Hernandez M., van Blitterswijk M.M., Jansen-West K., Paul J.W., Rademakers R., et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013, 77:639-646.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
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
-
3
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., Snowden J., Adamson J., Sadovnick A.D., Rollinson S., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442:916-919.
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
Snowden, J.7
Adamson, J.8
Sadovnick, A.D.9
Rollinson, S.10
-
4
-
-
84876411369
-
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
-
Beck J., Poulter M., Hensman D., Rohrer J.D., Mahoney C.J., Adamson G., Campbell T., Uphill J., Borg A., Fratta P., et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am. J. Hum. Genet. 2013, 92:345-353.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 345-353
-
-
Beck, J.1
Poulter, M.2
Hensman, D.3
Rohrer, J.D.4
Mahoney, C.J.5
Adamson, G.6
Campbell, T.7
Uphill, J.8
Borg, A.9
Fratta, P.10
-
5
-
-
84892596606
-
Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
-
Belzil V.V., Bauer P.O., Prudencio M., Gendron T.F., Stetler C.T., Yan I.K., Pregent L., Daughrity L., Baker M.C., Rademakers R., et al. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol. 2013, 126:895-905.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 895-905
-
-
Belzil, V.V.1
Bauer, P.O.2
Prudencio, M.3
Gendron, T.F.4
Stetler, C.T.5
Yan, I.K.6
Pregent, L.7
Daughrity, L.8
Baker, M.C.9
Rademakers, R.10
-
6
-
-
0034748570
-
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation
-
Bergman A., Einbeigi Z., Olofsson U., Taib Z., Wallgren A., Karlsson P., Wahlstrom J., Martinsson T., Nordling M. The western Swedish BRCA1 founder mutation 3171ins5; a 3.7cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Eur. J. Hum. Genet. 2001, 9:787-793.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 787-793
-
-
Bergman, A.1
Einbeigi, Z.2
Olofsson, U.3
Taib, Z.4
Wallgren, A.5
Karlsson, P.6
Wahlstrom, J.7
Martinsson, T.8
Nordling, M.9
-
7
-
-
78751478222
-
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
-
Boxer A.L., Mackenzie I.R., Boeve B.F., Baker M., Seeley W.W., Crook R., Feldman H., Hsiung G.Y., Rutherford N., Laluz V., et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J. Neurol. Neurosurg. Psychiatry 2011, 82:196-203.
-
(2011)
J. Neurol. Neurosurg. Psychiatry
, vol.82
, pp. 196-203
-
-
Boxer, A.L.1
Mackenzie, I.R.2
Boeve, B.F.3
Baker, M.4
Seeley, W.W.5
Crook, R.6
Feldman, H.7
Hsiung, G.Y.8
Rutherford, N.9
Laluz, V.10
-
8
-
-
84881531855
-
Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis
-
Ciura S., Lattante S., Le Ber I., Latouche M., Tostivint H., Brice A., Kabashi E. Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis. Ann. Neurol. 2013, 72:180-187.
-
(2013)
Ann. Neurol.
, vol.72
, 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
-
9
-
-
84888223043
-
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles
-
Cooper-Knock J., Higginbottom A., Connor-Robson N., Bayatti N., Bury J.J., Kirby J., Ninkina N., Buchman V.L., Shaw P.J. C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology 2013, 81:1719-1721.
-
(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
-
10
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., Rademakers R., Vandenberghe R., Dermaut B., Martin J.J., et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442:920-924.
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
Rademakers, R.7
Vandenberghe, R.8
Dermaut, B.9
Martin, J.J.10
-
11
-
-
84881024167
-
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
-
Cruts M., Gijselinck I., Van Langenhove T., van der Zee J., Van Broeckhoven C. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci. 2013, 36:450-459.
-
(2013)
Trends Neurosci.
, vol.36
, pp. 450-459
-
-
Cruts, M.1
Gijselinck, I.2
Van Langenhove, T.3
van der Zee, J.4
Van Broeckhoven, C.5
-
12
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
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
-
13
-
-
70350075024
-
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
-
Dion P.A., Daoud H., Rouleau G.A. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat. Rev. Genet. 2009, 10:769-782.
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 769-782
-
-
Dion, P.A.1
Daoud, H.2
Rouleau, G.A.3
-
14
-
-
84885808774
-
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
-
Donnelly C.J., Zhang P.W., Pham J.T., Heusler A.R., Mistry N.A., Vidensky S., Daley E.L., Poth E.M., Hoover B., Fines D.M., et al. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 2013, 80:415-428.
-
(2013)
Neuron
, vol.80
, pp. 415-428
-
-
Donnelly, C.J.1
Zhang, P.W.2
Pham, J.T.3
Heusler, 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
-
15
-
-
84861867565
-
Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
-
Englund E., Gustafson L., Passant U., Majounie E., Renton A.E., Traynor B.J., Rohrer J.D., Mok K., Hardy J. Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol. Aging 2012, 33(1850):e1813-e1856.
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.1850
, pp. e1813-e1856
-
-
Englund, E.1
Gustafson, L.2
Passant, U.3
Majounie, E.4
Renton, A.E.5
Traynor, B.J.6
Rohrer, J.D.7
Mok, K.8
Hardy, J.9
-
16
-
-
84901038797
-
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
-
(Epub ahead of print)
-
Farg M.A., Sundaramoorthy V., Sultana J.M., Yang S., Atkinson R.A., Levina V., Halloran M.A., Gleeson P., Blair I.P., Soo K.Y., et al. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Hum. Mol. Genet 2014, (Epub ahead of print). 10.1093/hmg/ddu068.
-
(2014)
Hum. Mol. Genet
-
-
Farg, M.A.1
Sundaramoorthy, V.2
Sultana, J.M.3
Yang, S.4
Atkinson, R.A.5
Levina, V.6
Halloran, M.A.7
Gleeson, P.8
Blair, I.P.9
Soo, K.Y.10
-
17
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
Fratta P., Mizielinska S., Nicoll A.J., Zloh M., Fisher E.M., Parkinson G., Isaacs A.M. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci. Rep. 2012, 2:1016.
-
(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
-
18
-
-
84883460229
-
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
-
Fratta P., Poulter M., Lashley T., Rohrer J.D., Polke J.M., Beck J., Ryan N., Hensman D., Mizielinska S., Waite A.J., et al. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol. 2013, 126:401-409.
-
(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
-
19
-
-
84896738170
-
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
-
Gallagher M.D., Suh E., Grossman M., Elman L., McCluskey L., Van Swieten J.C., Al-Sarraj S., Neumann M., Gelpi E., Ghetti B., et al. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol. 2014, 127:407-418.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 407-418
-
-
Gallagher, M.D.1
Suh, E.2
Grossman, M.3
Elman, L.4
McCluskey, L.5
Van Swieten, J.C.6
Al-Sarraj, S.7
Neumann, M.8
Gelpi, E.9
Ghetti, B.10
-
20
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
-
Gijselinck I., Van Langenhove T., van der Zee J., Sleegers K., Philtjens S., Kleinberger G., Janssens J., Bettens K., Van Cauwenberghe C., Pereson S., et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 2012, 11:54-65.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
Van Langenhove, T.2
van der Zee, J.3
Sleegers, K.4
Philtjens, S.5
Kleinberger, G.6
Janssens, J.7
Bettens, K.8
Van Cauwenberghe, C.9
Pereson, S.10
-
21
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
Greene E., Mahishi L., Entezam A., Kumari D., Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007, 35:3383-3390.
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
22
-
-
84896259966
-
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
-
Haeusler A.R., Donnelly C.J., Periz G., Simko E.A., Shaw P.G., Kim M.S., Maragakis N.J., Troncoso J.C., Pandey A., Sattler R., et al. C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 2014, 507:195-200.
-
(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
-
23
-
-
84878899164
-
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
-
Harms M.B., Cady J., Zaidman C., Cooper P., Bali T., Allred P., Cruchaga C., Baughn M., Libby R.T., Pestronk A., et al. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34(2234):e2213-e2239.
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.2234
, pp. e2213-e2239
-
-
Harms, M.B.1
Cady, J.2
Zaidman, C.3
Cooper, P.4
Bali, T.5
Allred, P.6
Cruchaga, C.7
Baughn, M.8
Libby, R.T.9
Pestronk, A.10
-
24
-
-
0036796422
-
Gene finding in genetically isolated populations
-
Heutink P., Oostra B.A. Gene finding in genetically isolated populations. Hum. Mol. Genet. 2002, 11:2507-2515.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2507-2515
-
-
Heutink, P.1
Oostra, B.A.2
-
25
-
-
0032543684
-
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M., Lendon C.L., Rizzu P., Baker M., Froelich S., Houlden H., Pickering-Brown S., Chakraverty S., Isaacs A., Grover A., et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
Pickering-Brown, S.7
Chakraverty, S.8
Isaacs, A.9
Grover, A.10
-
26
-
-
84866058216
-
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan
-
Ishiura H., Takahashi Y., Mitsui J., Yoshida S., Kihira T., Kokubo Y., Kuzuhara S., Ranum L.P., Tamaoki T., Ichikawa Y., et al. C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch. Neurol. 2012, 69:1154-1158.
-
(2012)
Arch. Neurol.
, vol.69
, pp. 1154-1158
-
-
Ishiura, H.1
Takahashi, Y.2
Mitsui, J.3
Yoshida, S.4
Kihira, T.5
Kokubo, Y.6
Kuzuhara, S.7
Ranum, L.P.8
Tamaoki, T.9
Ichikawa, Y.10
-
27
-
-
84872361069
-
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
-
Jang J.H., Kwon M.J., Choi W.J., Oh K.W., Koh S.H., Ki C.S., Kim S.H. Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34(1311):e1317-e1319.
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.1311
, pp. e1317-e1319
-
-
Jang, J.H.1
Kwon, M.J.2
Choi, W.J.3
Oh, K.W.4
Koh, S.H.5
Ki, C.S.6
Kim, S.H.7
-
28
-
-
85058205990
-
Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
-
Jiao B., Tang B., Liu X., Yan X., Zhou L., Yang Y., Wang J., Xia K., Shen L. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol. Aging 2014, 35(936):e919-e922.
-
(2014)
Neurobiol. Aging
, vol.35
, Issue.936
, pp. e919-e922
-
-
Jiao, B.1
Tang, B.2
Liu, X.3
Yan, X.4
Zhou, L.5
Yang, Y.6
Wang, J.7
Xia, K.8
Shen, L.9
-
29
-
-
84875226784
-
Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
-
Konno T., Shiga A., Tsujino A., Sugai A., Kato T., Kanai K., Yokoseki A., Eguchi H., Kuwabara S., Nishizawa M., et al. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J. Neurol. Neurosurg. Psychiatry 2013, 84:398-401.
-
(2013)
J. Neurol. Neurosurg. Psychiatry
, vol.84
, pp. 398-401
-
-
Konno, T.1
Shiga, A.2
Tsujino, A.3
Sugai, A.4
Kato, T.5
Kanai, K.6
Yokoseki, A.7
Eguchi, H.8
Kuwabara, S.9
Nishizawa, M.10
-
30
-
-
77956876046
-
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
-
Laaksovirta H., Peuralinna T., Schymick J.C., Scholz S.W., Lai S.L., Myllykangas L., Sulkava R., Jansson L., Hernandez D.G., Gibbs J.R., et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010, 9:978-985.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 978-985
-
-
Laaksovirta, H.1
Peuralinna, T.2
Schymick, J.C.3
Scholz, S.W.4
Lai, S.L.5
Myllykangas, L.6
Sulkava, R.7
Jansson, L.8
Hernandez, D.G.9
Gibbs, J.R.10
-
31
-
-
84888098632
-
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
-
Lagier-Tourenne C., Baughn M., Rigo F., Sun S., Liu P., Li H.R., Jiang J., Watt A.T., Chun S., Katz M., et al. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:E4530-E4539.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. E4530-E4539
-
-
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
-
32
-
-
84896708010
-
A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia
-
Lashley T., Rohrer J.D., Mahoney C., Gordon E., Beck J., Mead S., Warren J., Rossor M., Revesz T. A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia. Neuropathol. Appl. Neurobiol. 2013, 40:502-513.
-
(2013)
Neuropathol. Appl. Neurobiol.
, vol.40
, pp. 502-513
-
-
Lashley, T.1
Rohrer, J.D.2
Mahoney, C.3
Gordon, E.4
Beck, J.5
Mead, S.6
Warren, J.7
Rossor, M.8
Revesz, T.9
-
33
-
-
84874246696
-
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
-
Levine T.P., Daniels R.D., Gatta A.T., Wong L.H., Hayes M.J. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 2013, 29:499-503.
-
(2013)
Bioinformatics
, vol.29
, pp. 499-503
-
-
Levine, T.P.1
Daniels, R.D.2
Gatta, A.T.3
Wong, L.H.4
Hayes, M.J.5
-
34
-
-
0032032013
-
Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis
-
Lin C.L., Bristol L.A., Jin L., Dykes-Hoberg M., Crawford T., Clawson L., Rothstein J.D. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998, 20:589-602.
-
(1998)
Neuron
, vol.20
, pp. 589-602
-
-
Lin, C.L.1
Bristol, L.A.2
Jin, L.3
Dykes-Hoberg, M.4
Crawford, T.5
Clawson, L.6
Rothstein, J.D.7
-
35
-
-
84874019770
-
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
-
Lindquist S.G., Duno M., Batbayli M., Puschmann A., Braendgaard H., Mardosiene S., Svenstrup K., Pinborg L.H., Vestergaard K., Hjermind L.E., et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin. Genet. 2013, 83:279-283.
-
(2013)
Clin. Genet.
, vol.83
, pp. 279-283
-
-
Lindquist, S.G.1
Duno, M.2
Batbayli, M.3
Puschmann, A.4
Braendgaard, H.5
Mardosiene, S.6
Svenstrup, K.7
Pinborg, L.H.8
Vestergaard, K.9
Hjermind, L.E.10
-
36
-
-
54749127016
-
Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9
-
Luty A.A., Kwok J.B., Thompson E.M., Blumbergs P., Brooks W.S., Loy C.T., Dobson-Stone C., Panegyres P.K., Hecker J., Nicholson G.A., et al. Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol. 2008, 8:32.
-
(2008)
BMC Neurol.
, vol.8
, pp. 32
-
-
Luty, A.A.1
Kwok, J.B.2
Thompson, E.M.3
Blumbergs, P.4
Brooks, W.S.5
Loy, C.T.6
Dobson-Stone, C.7
Panegyres, P.K.8
Hecker, J.9
Nicholson, G.A.10
-
37
-
-
84892611020
-
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
-
Mackenzie I.R., Arzberger T., Kremmer E., Troost D., Lorenzl S., Mori K., Weng S.M., Haass C., Kretzschmar H.A., Edbauer D., et al. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta Neuropathol. 2013, 126:859-879.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 859-879
-
-
Mackenzie, I.R.1
Arzberger, T.2
Kremmer, E.3
Troost, D.4
Lorenzl, S.5
Mori, K.6
Weng, S.M.7
Haass, C.8
Kretzschmar, H.A.9
Edbauer, D.10
-
38
-
-
84896697357
-
The neuropathology associated with repeat expansions in the C9ORF72 gene
-
Mackenzie I.R., Frick P., Neumann M. The neuropathology associated with repeat expansions in the C9ORF72 gene. Acta Neuropathol. 2014, 127:347-357.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 347-357
-
-
Mackenzie, I.R.1
Frick, P.2
Neumann, M.3
-
39
-
-
84856132922
-
Repeat expansion in C9ORF72 in Alzheimer's disease
-
Majounie E., Abramzon Y., Renton A.E., Perry R., Bassett S.S., Pletnikova O., Troncoso J.C., Hardy J., Singleton A.B., Traynor B.J. Repeat expansion in C9ORF72 in Alzheimer's disease. N. Engl. J. Med. 2012, 366:283-284.
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 283-284
-
-
Majounie, E.1
Abramzon, Y.2
Renton, A.E.3
Perry, R.4
Bassett, S.S.5
Pletnikova, O.6
Troncoso, J.C.7
Hardy, J.8
Singleton, A.B.9
Traynor, B.J.10
-
40
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
Majounie E., Renton A.E., Mok K., Dopper E.G., Waite A., Rollinson S., Chio A., Restagno G., Nicolaou N., Simon-Sanchez J., et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012, 11:323-330.
-
(2012)
Lancet Neurol.
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
Dopper, E.G.4
Waite, A.5
Rollinson, S.6
Chio, A.7
Restagno, G.8
Nicolaou, N.9
Simon-Sanchez, J.10
-
41
-
-
84892585908
-
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
-
Mizielinska S., Lashley T., Norona F.E., Clayton E.L., Ridler C.E., Fratta P., Isaacs A.M. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol. 2013, 126:845-857.
-
(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
-
42
-
-
81355146748
-
Chromosome 9 ALS and FTD locus is probably derived from a single founder
-
Mok K., Traynor B.J., Schymick J., Tienari P.J., Laaksovirta H., Peuralinna T., Myllykangas L., Chio A., Shatunov A., Boeve B.F., et al. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol. Aging 2012, 33(209):e203-e208.
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.209
, pp. e203-e208
-
-
Mok, K.1
Traynor, B.J.2
Schymick, J.3
Tienari, P.J.4
Laaksovirta, H.5
Peuralinna, T.6
Myllykangas, L.7
Chio, A.8
Shatunov, A.9
Boeve, B.F.10
-
43
-
-
33846612007
-
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
-
Momeni P., Schymick J., Jain S., Cookson M.R., Cairns N.J., Greggio E., Greenway M.J., Berger S., Pickering-Brown S., Chio A., et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006, 6:44.
-
(2006)
BMC Neurol.
, vol.6
, pp. 44
-
-
Momeni, P.1
Schymick, J.2
Jain, S.3
Cookson, M.R.4
Cairns, N.J.5
Greggio, E.6
Greenway, M.J.7
Berger, S.8
Pickering-Brown, S.9
Chio, A.10
-
44
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori K., Weng S.M., Arzberger T., May S., Rentzsch K., Kremmer E., Schmid B., Kretzschmar H.A., Cruts M., Van Broeckhoven C., et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013, 339:1335-1338.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
-
45
-
-
84874963127
-
HnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
-
Mori K., Lammich S., Mackenzie I.R., Forne I., Zilow S., Kretzschmar H., Edbauer D., Janssens J., Kleinberger G., Cruts M., et al. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol. 2013, 125:413-423.
-
(2013)
Acta Neuropathol.
, vol.125
, pp. 413-423
-
-
Mori, K.1
Lammich, S.2
Mackenzie, I.R.3
Forne, I.4
Zilow, S.5
Kretzschmar, H.6
Edbauer, D.7
Janssens, J.8
Kleinberger, G.9
Cruts, M.10
-
46
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
Mori K., Arzberger T., Grasser F.A., Gijselinck I., May S., Rentzsch K., Weng S.M., Schludi M.H., van der Zee J., Cruts M., et al. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol. 2013, 126:881-893.
-
(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
-
47
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
Morita M., Al-Chalabi A., Andersen P.M., Hosler B., Sapp P., Englund E., Mitchell J.E., Habgood J.J., de Belleroche J., Xi J., et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66:839-844.
-
(2006)
Neurology
, vol.66
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
Hosler, B.4
Sapp, P.5
Englund, E.6
Mitchell, J.E.7
Habgood, J.J.8
de Belleroche, J.9
Xi, J.10
-
48
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
Sampathu, D.M.2
Kwong, L.K.3
Truax, A.C.4
Micsenyi, M.C.5
Chou, T.T.6
Bruce, J.7
Schuck, T.8
Grossman, M.9
Clark, C.M.10
-
49
-
-
84864383816
-
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
-
Ogaki K., Li Y., Atsuta N., Tomiyama H., Funayama M., Watanabe H., Nakamura R., Yoshino H., Yato S., Tamura A., et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33(2527):e2511-e2526.
-
(2012)
Neurobiol. Aging
, vol.33
, Issue.2527
, pp. e2511-e2526
-
-
Ogaki, K.1
Li, Y.2
Atsuta, N.3
Tomiyama, H.4
Funayama, M.5
Watanabe, H.6
Nakamura, R.7
Yoshino, H.8
Yato, S.9
Tamura, A.10
-
50
-
-
84865260276
-
Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers
-
Pardo L.M., Piras G., Asproni R., van der Gaag K.J., Gabbas A., Ruiz-Linares A., de Knijff P., Monne M., Rizzu P., Heutink P. Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers. Eur. J. Hum. Genet. 2012, 20:956-964.
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 956-964
-
-
Pardo, L.M.1
Piras, G.2
Asproni, R.3
van der Gaag, K.J.4
Gabbas, A.5
Ruiz-Linares, A.6
de Knijff, P.7
Monne, M.8
Rizzu, P.9
Heutink, P.10
-
51
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
Pearson J.P., Williams N.M., Majounie E., Waite A., Stott J., Newsway V., Murray A., Hernandez D., Guerreiro R., Singleton A.B., et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J. Neurol. 2011, 258:647-655.
-
(2011)
J. Neurol.
, vol.258
, pp. 647-655
-
-
Pearson, J.P.1
Williams, N.M.2
Majounie, E.3
Waite, A.4
Stott, J.5
Newsway, V.6
Murray, A.7
Hernandez, D.8
Guerreiro, R.9
Singleton, A.B.10
-
52
-
-
84896703334
-
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion
-
Pliner H.A., Mann D.M., Traynor B.J. Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol. 2014, 127:391-396.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 391-396
-
-
Pliner, H.A.1
Mann, D.M.2
Traynor, B.J.3
-
53
-
-
14444284106
-
Tau is a candidate gene for chromosome 17 frontotemporal dementia
-
Poorkaj P., Bird T.D., Wijsman E., Nemens E., Garruto R.M., Anderson L., Andreadis A., Wiederholt W.C., Raskind M., Schellenberg G.D. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol. 1998, 43:815-825.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 815-825
-
-
Poorkaj, P.1
Bird, T.D.2
Wijsman, E.3
Nemens, E.4
Garruto, R.M.5
Anderson, L.6
Andreadis, A.7
Wiederholt, W.C.8
Raskind, M.9
Schellenberg, G.D.10
-
54
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
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
-
55
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N., de Leon D., Ozelius L., Kramer P., Almasy L., Singer B., Fahn S., Breakefield X., Bressman S. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat. Genet. 1995, 9:152-159.
-
(1995)
Nat. Genet.
, vol.9
, pp. 152-159
-
-
Risch, N.1
de Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
-
56
-
-
79953034868
-
Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis
-
Rollinson S., Mead S., Snowden J., Richardson A., Rohrer J., Halliwell N., Usher S., Neary D., Mann D., Hardy J., et al. Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol. Aging 2011, 32(758):e751-e757.
-
(2011)
Neurobiol. Aging
, vol.32
, Issue.758
, pp. e751-e757
-
-
Rollinson, S.1
Mead, S.2
Snowden, J.3
Richardson, A.4
Rohrer, J.5
Halliwell, N.6
Usher, S.7
Neary, D.8
Mann, D.9
Hardy, J.10
-
57
-
-
0029030610
-
Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis
-
Rothstein J.D., Van Kammen M., Levey A.I., Martin L.J., Kuncl R.W. Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis. Ann. Neurol. 1995, 38:73-84.
-
(1995)
Ann. Neurol.
, vol.38
, pp. 73-84
-
-
Rothstein, J.D.1
Van Kammen, M.2
Levey, A.I.3
Martin, L.J.4
Kuncl, R.W.5
-
58
-
-
84875896727
-
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
-
Sabatelli M., Conte A., Zollino M. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis. Clin. Genet. 2013, 83:408-416.
-
(2013)
Clin. Genet.
, vol.83
, pp. 408-416
-
-
Sabatelli, M.1
Conte, A.2
Zollino, M.3
-
59
-
-
84886389563
-
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
-
(208ra149)
-
Sareen D., O'Rourke J.G., Meera P., Muhammad A.K., Grant S., Simpkinson M., Bell S., Carmona S., Ornelas L., Sahabian A., et al. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci. Transl. Med. 2013, 5. (208ra149).
-
(2013)
Sci. Transl. Med.
, vol.5
-
-
Sareen, D.1
O'Rourke, J.G.2
Meera, P.3
Muhammad, A.K.4
Grant, S.5
Simpkinson, M.6
Bell, S.7
Carmona, S.8
Ornelas, L.9
Sahabian, A.10
-
60
-
-
79953883507
-
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review
-
Seelaar H., Rohrer J.D., Pijnenburg Y.A., Fox N.C., van Swieten J.C. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J. Neurol. Neurosurg. Psychiatry 2011, 82:476-486.
-
(2011)
J. Neurol. Neurosurg. Psychiatry
, vol.82
, pp. 476-486
-
-
Seelaar, H.1
Rohrer, J.D.2
Pijnenburg, Y.A.3
Fox, N.C.4
van Swieten, J.C.5
-
61
-
-
33646375453
-
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
-
Service S., DeYoung J., Karayiorgou M., Roos J.L., Pretorious H., Bedoya G., Ospina J., Ruiz-Linares A., Macedo A., Palha J.A., et al. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat. Genet. 2006, 38:556-560.
-
(2006)
Nat. Genet.
, vol.38
, pp. 556-560
-
-
Service, S.1
DeYoung, J.2
Karayiorgou, M.3
Roos, J.L.4
Pretorious, H.5
Bedoya, G.6
Ospina, J.7
Ruiz-Linares, A.8
Macedo, A.9
Palha, J.A.10
-
62
-
-
77956877621
-
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
-
Shatunov A., Mok K., Newhouse S., Weale M.E., Smith B., Vance C., Johnson L., Veldink J.H., van Es M.A., van den Berg L.H., et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010, 9:986-994.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 986-994
-
-
Shatunov, A.1
Mok, K.2
Newhouse, S.3
Weale, M.E.4
Smith, B.5
Vance, C.6
Johnson, L.7
Veldink, J.H.8
van Es, M.A.9
van den Berg, L.H.10
-
63
-
-
84865862939
-
The genetics and neuropathology of frontotemporal lobar degeneration
-
Sieben A., Van Langenhove T., Engelborghs S., Martin J.J., Boon P., Cras P., De Deyn P.P., Santens P., Van Broeckhoven C., Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012, 124:353-372.
-
(2012)
Acta Neuropathol.
, vol.124
, pp. 353-372
-
-
Sieben, A.1
Van Langenhove, T.2
Engelborghs, S.3
Martin, J.J.4
Boon, P.5
Cras, P.6
De Deyn, P.P.7
Santens, P.8
Van Broeckhoven, C.9
Cruts, M.10
-
64
-
-
84857516402
-
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
-
Simon-Sanchez J., Dopper E.G., Cohn-Hokke P.E., Hukema R.K., Nicolaou N., Seelaar H., de Graaf J.R., de Koning I., van Schoor N.M., Deeg D.J., et al. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012, 135:723-735.
-
(2012)
Brain
, vol.135
, pp. 723-735
-
-
Simon-Sanchez, J.1
Dopper, E.G.2
Cohn-Hokke, P.E.3
Hukema, R.K.4
Nicolaou, N.5
Seelaar, H.6
de Graaf, J.R.7
de Koning, I.8
van Schoor, N.M.9
Deeg, D.J.10
-
65
-
-
84871219249
-
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
-
Smith B.N., Newhouse S., Shatunov A., Vance C., Topp S., Johnson L., Miller J., Lee Y., Troakes C., Scott K.M., et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur. J. Hum. Genet. 2013, 21:102-108.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 102-108
-
-
Smith, B.N.1
Newhouse, S.2
Shatunov, A.3
Vance, C.4
Topp, S.5
Johnson, L.6
Miller, J.7
Lee, Y.8
Troakes, C.9
Scott, K.M.10
-
66
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
Snowden J.S., Rollinson S., Thompson J.C., Harris J.M., Stopford C.L., Richardson A.M., Jones M., Gerhard A., Davidson Y.S., Robinson A., et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012, 135:693-708.
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.S.1
Rollinson, S.2
Thompson, J.C.3
Harris, J.M.4
Stopford, C.L.5
Richardson, A.M.6
Jones, M.7
Gerhard, A.8
Davidson, Y.S.9
Robinson, A.10
-
67
-
-
0032560487
-
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
-
Spillantini M.G., Murrell J.R., Goedert M., Farlow M.R., Klug A., Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:7737-7741.
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 7737-7741
-
-
Spillantini, M.G.1
Murrell, J.R.2
Goedert, M.3
Farlow, M.R.4
Klug, A.5
Ghetti, B.6
-
68
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe J.S., Nelson D.L., Zhang F., Pieretti M., Caskey C.T., Saxe D., Warren S.T. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1992, 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
-
69
-
-
84863482648
-
A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
-
(2232 e2211-2232 e2218)
-
Tsai C.P., Soong B.W., Tu P.H., Lin K.P., Fuh J.L., Tsai P.C., Lu Y.C., Lee I.H., Lee Y.C. A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol. Aging 2012, 33. (2232 e2211-2232 e2218).
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Tsai, C.P.1
Soong, B.W.2
Tu, P.H.3
Lin, K.P.4
Fuh, J.L.5
Tsai, P.C.6
Lu, Y.C.7
Lee, I.H.8
Lee, Y.C.9
-
70
-
-
84888235194
-
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
-
van Blitterswijk M., Baker M.C., DeJesus-Hernandez M., Ghidoni R., Benussi L., Finger E., Hsiung G.Y., Kelley B.J., Murray M.E., Rutherford N.J., et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013, 81:1332-1341.
-
(2013)
Neurology
, vol.81
, pp. 1332-1341
-
-
van Blitterswijk, M.1
Baker, M.C.2
DeJesus-Hernandez, M.3
Ghidoni, R.4
Benussi, L.5
Finger, E.6
Hsiung, G.Y.7
Kelley, B.J.8
Murray, M.E.9
Rutherford, N.J.10
-
71
-
-
84896718565
-
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
-
van Blitterswijk M., Mullen B., Nicholson A.M., Bieniek K.F., Heckman M.G., Baker M.C., Dejesus-Hernandez M., Finch N.A., Brown P.H., Murray M.E., et al. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014, 127:397-406.
-
(2014)
Acta Neuropathol.
, vol.127
, pp. 397-406
-
-
van Blitterswijk, M.1
Mullen, B.2
Nicholson, A.M.3
Bieniek, K.F.4
Heckman, M.G.5
Baker, M.C.6
Dejesus-Hernandez, M.7
Finch, N.A.8
Brown, P.H.9
Murray, M.E.10
-
72
-
-
77649136250
-
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
-
Van Deerlin V.M., Sleiman P.M., Martinez-Lage M., Chen-Plotkin A., Wang L.S., Graff-Radford N.R., Dickson D.W., Rademakers R., Boeve B.F., Grossman M., et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat. Genet. 2010, 42:234-239.
-
(2010)
Nat. Genet.
, vol.42
, pp. 234-239
-
-
Van Deerlin, V.M.1
Sleiman, P.M.2
Martinez-Lage, M.3
Chen-Plotkin, A.4
Wang, L.S.5
Graff-Radford, N.R.6
Dickson, D.W.7
Rademakers, R.8
Boeve, B.F.9
Grossman, M.10
-
73
-
-
84873093810
-
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
-
van der Zee J., Gijselinck I., Dillen L., Van Langenhove T., Theuns J., Engelborghs S., Philtjens S., Vandenbulcke M., Sleegers K., Sieben A., et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum. Mutat. 2013, 34:363-373.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 363-373
-
-
van der Zee, J.1
Gijselinck, I.2
Dillen, L.3
Van Langenhove, T.4
Theuns, J.5
Engelborghs, S.6
Philtjens, S.7
Vandenbulcke, M.8
Sleegers, K.9
Sieben, A.10
-
74
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es M.A., Veldink J.H., Saris C.G., Blauw H.M., van Vught P.W., Birve A., Lemmens R., Schelhaas H.J., Groen E.J., Huisman M.H., et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 2009, 41:1083-1087.
-
(2009)
Nat. Genet.
, vol.41
, pp. 1083-1087
-
-
van Es, M.A.1
Veldink, J.H.2
Saris, C.G.3
Blauw, H.M.4
van Vught, P.W.5
Birve, A.6
Lemmens, R.7
Schelhaas, H.J.8
Groen, E.J.9
Huisman, M.H.10
-
75
-
-
84866490231
-
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum
-
Van Langenhove T., van der Zee J., Van Broeckhoven C. The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann. Med. 2012, 44:817-828.
-
(2012)
Ann. Med.
, vol.44
, pp. 817-828
-
-
Van Langenhove, T.1
van der Zee, J.2
Van Broeckhoven, C.3
-
76
-
-
33645069660
-
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
-
Vance C., Al-Chalabi A., Ruddy D., Smith B.N., Hu X., Sreedharan J., Siddique T., Schelhaas H.J., Kusters B., Troost D., et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006, 129:868-876.
-
(2006)
Brain
, vol.129
, pp. 868-876
-
-
Vance, C.1
Al-Chalabi, A.2
Ruddy, D.3
Smith, B.N.4
Hu, X.5
Sreedharan, J.6
Siddique, T.7
Schelhaas, H.J.8
Kusters, B.9
Troost, D.10
-
77
-
-
85056706559
-
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
-
1779.e5-1779.e13
-
Waite A.J., Baumer D., East S., Neal J., Morris H.R., Ansorge O., Blake D.J. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol. Aging 2014, 35:1779.e5-1779.e13.
-
(2014)
Neurobiol. Aging
, vol.35
-
-
Waite, A.J.1
Baumer, D.2
East, S.3
Neal, J.4
Morris, H.R.5
Ansorge, O.6
Blake, D.J.7
-
78
-
-
80052716635
-
Cellular toxicity of expanded RNA repeats: focus on RNA foci
-
Wojciechowska M., Krzyzosiak W.J. Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum. Mol. Genet. 2011, 20:3811-3821.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3811-3821
-
-
Wojciechowska, M.1
Krzyzosiak, W.J.2
-
79
-
-
84878863605
-
Hypermethylation of the CpG island near the GC repeat in ALS with a C9orf72 expansion
-
Xi Z., Zinman L., Moreno D., Schymick J., Liang Y., Sato C., Zheng Y., Ghani M., Dib S., Keith J., et al. Hypermethylation of the CpG island near the GC repeat in ALS with a C9orf72 expansion. Am. J. Hum. Genet. 2013, 92:981-989.
-
(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
-
80
-
-
84877342215
-
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
-
Xu Z., Poidevin M., Li X., Li Y., Shu L., Nelson D.L., Li H., Hales C.M., Gearing M., Wingo T.S., et al. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:7778-7783.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. 7778-7783
-
-
Xu, Z.1
Poidevin, M.2
Li, X.3
Li, Y.4
Shu, L.5
Nelson, D.L.6
Li, H.7
Hales, C.M.8
Gearing, M.9
Wingo, T.S.10
-
81
-
-
84894465709
-
TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins
-
Zamiri B., Reddy K., Macgregor R.B., Pearson C.E. TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. J. Biol. Chem. 2014, 289:4653-4659.
-
(2014)
J. Biol. Chem.
, vol.289
, pp. 4653-4659
-
-
Zamiri, B.1
Reddy, K.2
Macgregor, R.B.3
Pearson, C.E.4
-
82
-
-
84874266850
-
Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease
-
Zhang D., Iyer L.M., He F., Aravind L. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front. Genet. 2012, 3:283.
-
(2012)
Front. Genet.
, vol.3
, pp. 283
-
-
Zhang, D.1
Iyer, L.M.2
He, F.3
Aravind, L.4
-
83
-
-
84875241102
-
Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
-
Zou Z.Y., Li X.G., Liu M.S., Cui L.Y. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol. Aging 2013, 34(1710):e1715-e1716.
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.1710
, pp. e1715-e1716
-
-
Zou, Z.Y.1
Li, X.G.2
Liu, M.S.3
Cui, L.Y.4
-
84
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
Zu T., Gibbens B., Doty N.S., Gomes-Pereira M., Huguet A., Stone M.D., Margolis J., Peterson M., Markowski T.W., Ingram M.A., et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:260-265.
-
(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
Margolis, J.7
Peterson, M.8
Markowski, T.W.9
Ingram, M.A.10
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