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Volumn 29, Issue 2-3, 2015, Pages 85-94

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72

Author keywords

ALS; C9orf72; FTLD; molecular epidemiology; repeat expansion

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; GUANINE QUADRUPLEX; RNA BINDING PROTEIN; C9ORF72 PROTEIN, HUMAN; PROTEIN;

EID: 84946575587     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2015.1085980     Document Type: Article
Times cited : (17)

References (111)
  • 2
    • 84885178229 scopus 로고    scopus 로고
    • Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
    • e1-7
    • Alavi, A., Nafissi, S., Rohani, M., Shahidi, G., Zamani, B., Shamshiri, H., et al. (2014). Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients. Neurobiol Aging, 35, 267 e1-7
    • (2014) Neurobiol Aging , vol.35 , pp. 267
    • Alavi, A.1    Nafissi, S.2    Rohani, M.3    Shahidi, G.4    Zamani, B.5    Shamshiri, H.6
  • 3
    • 33750716074 scopus 로고    scopus 로고
    • TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., et al. (2006). TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun, 351, 602-611
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3    Ikeda, K.4    Nonaka, T.5    Mori, H.6
  • 4
    • 84874272095 scopus 로고    scopus 로고
    • 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., et al. (2013). Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron, 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
  • 5
    • 84876411369 scopus 로고    scopus 로고
    • 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., et al. (2013). 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, 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
  • 7
    • 78751478222 scopus 로고    scopus 로고
    • 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., et al. (2011). Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry, 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
  • 9
    • 84930637080 scopus 로고    scopus 로고
    • Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
    • Chew, J., Gendron, T. F., Prudencio, M., Sasaguri, H., Zhang, Y. J., Castanedes-Casey, M., et al. (2015). Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science, 348, 1151-1154
    • (2015) Science , vol.348 , pp. 1151-1154
    • Chew, J.1    Gendron, T.F.2    Prudencio, M.3    Sasaguri, H.4    Zhang, Y.J.5    Castanedes-Casey, M.6
  • 10
    • 84881531855 scopus 로고    scopus 로고
    • 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. (2013). Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol, 74, 180-187
    • (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
  • 11
    • 84903513101 scopus 로고    scopus 로고
    • Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
    • Cooper-Knock, J., Walsh, M. J., Higginbottom, A., Robin Highley, J., Dickman, M. J., Edbauer, D., et al. (2014). Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain, 137, 2040-2051
    • (2014) Brain , vol.137 , pp. 2040-2051
    • Cooper-Knock, J.1    Walsh, M.J.2    Higginbottom, A.3    Robin Highley, J.4    Dickman, M.J.5    Edbauer, D.6
  • 12
    • 84884159557 scopus 로고    scopus 로고
    • Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: A Belgian cohort study
    • e7-2890 e12
    • Debray, S., Race, V., Crabbe, V., Herdewyn, S., Matthijs, G., Goris, A., et al. (2013). Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study. Neurobiol Aging, 34, 2890 e7-2890 e12
    • (2013) Neurobiol Aging , vol.34 , pp. 2890
    • Debray, S.1    Race, V.2    Crabbe, V.3    Herdewyn, S.4    Matthijs, G.5    Goris, A.6
  • 13
    • 80054832080 scopus 로고    scopus 로고
    • 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., et al. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 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
  • 14
    • 84878723887 scopus 로고    scopus 로고
    • Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis
    • Deng, M., Wei, L., Zuo, X., Tian, Y., Xie, F., Hu, P., et al. (2013). Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet, 45, 697-700
    • (2013) Nat Genet , vol.45 , pp. 697-700
    • Deng, M.1    Wei, L.2    Zuo, X.3    Tian, Y.4    Xie, F.5    Hu, P.6
  • 15
    • 84866093352 scopus 로고    scopus 로고
    • C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
    • Dobson-Stone, C., Hallupp, M., Bartley, L., Shepherd, C. E., Halliday, G. M., Schofield, P. R., et al. (2012). C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology, 79, 995-1001
    • (2012) Neurology , vol.79 , pp. 995-1001
    • Dobson-Stone, C.1    Hallupp, M.2    Bartley, L.3    Shepherd, C.E.4    Halliday, G.M.5    Schofield, P.R.6
  • 16
    • 84897867161 scopus 로고    scopus 로고
    • Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing
    • Doi, K., Monjo, T., Hoang, P. H., Yoshimura, J., Yurino, H., Mitsui, J., et al. (2014). Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing. Bioinformatics, 30, 815-822
    • (2014) Bioinformatics , vol.30 , pp. 815-822
    • Doi, K.1    Monjo, T.2    Hoang, P.H.3    Yoshimura, J.4    Yurino, H.5    Mitsui, J.6
  • 17
    • 84892451456 scopus 로고    scopus 로고
    • Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
    • Dols-Icardo, O., Garcia-Redondo, A., Rojas-Garcia, R., Sanchez-Valle, R., Noguera, A., Gomez-Tortosa, E., et al. (2014). Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet, 23, 749-754
    • (2014) Hum Mol Genet , vol.23 , pp. 749-754
    • Dols-Icardo, O.1    Garcia-Redondo, A.2    Rojas-Garcia, R.3    Sanchez-Valle, R.4    Noguera, A.5    Gomez-Tortosa, E.6
  • 18
    • 84878803626 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex
    • Dombroski, B. A., Galasko, D. R., Mata, I. F., Zabetian, C. P., Craig, U. K., Garruto, R. M., et al. (2013). C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex. JAMA Neurol, 70, 742-745
    • (2013) JAMA Neurol , vol.70 , pp. 742-745
    • Dombroski, B.A.1    Galasko, D.R.2    Mata, I.F.3    Zabetian, C.P.4    Craig, U.K.5    Garruto, R.M.6
  • 19
    • 84885808774 scopus 로고    scopus 로고
    • RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
    • Donnelly, C. J., Zhang, P. W., Pham, J. T., Haeusler, A. R., Mistry, N. A., Vidensky, S., et al. (2013). RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron, 80, 415-428
    • (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
  • 20
    • 84897859556 scopus 로고    scopus 로고
    • A genome-wide association meta-Analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
    • Fogh, I., Ratti, A., Gellera, C., Lin, K., Tiloca, C., Moskvina, V., et al. (2014). A genome-wide association meta-Analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet, 23, 2220-2231
    • (2014) Hum Mol Genet , vol.23 , pp. 2220-2231
    • Fogh, I.1    Ratti, A.2    Gellera, C.3    Lin, K.4    Tiloca, C.5    Moskvina, V.6
  • 21
    • 84871801926 scopus 로고    scopus 로고
    • 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. (2012). C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep, 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
  • 22
    • 84920417120 scopus 로고    scopus 로고
    • Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
    • e1-7
    • Fratta, P., Polke, J. M., Newcombe, J., Mizielinska, S., Lashley, T., Poulter, M., et al. (2015). Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging, 36, 546 e1-7
    • (2015) Neurobiol Aging , vol.36 , pp. 546
    • Fratta, P.1    Polke, J.M.2    Newcombe, J.3    Mizielinska, S.4    Lashley, T.5    Poulter, M.6
  • 23
    • 84892737893 scopus 로고    scopus 로고
    • Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: Frequency in a cohort of geriatric non-demented subjects
    • Galimberti, D., Arosio, B., Fenoglio, C., Serpente, M., Cioffi, S. M., Bonsi, R., et al. (2014). Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects. J Alzheimers Dis, 39, 19-22
    • (2014) J Alzheimers Dis , vol.39 , pp. 19-22
    • Galimberti, D.1    Arosio, B.2    Fenoglio, C.3    Serpente, M.4    Cioffi, S.M.5    Bonsi, R.6
  • 25
    • 84892590289 scopus 로고    scopus 로고
    • Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-Associated non-ATG translation in c9FTD/ALS
    • Gendron, T. F., Bieniek, K. F., Zhang, Y. J., Jansen-West, K., Ash, P. E., Caulfield, T., et al. (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
    • (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
  • 26
    • 77952115084 scopus 로고    scopus 로고
    • Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Gijselinck, I., Engelborghs, S., Maes, G., Cuijt, I., Peeters, K., Matteijssens, M., et al. (2010). Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol, 67, 606-616
    • (2010) Arch Neurol , vol.67 , pp. 606-616
    • Gijselinck, I.1    Engelborghs, S.2    Maes, G.3    Cuijt, I.4    Peeters, K.5    Matteijssens, M.6
  • 27
    • 83555166183 scopus 로고    scopus 로고
    • 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., et al. (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. The Lancet Neurology, 11, 54-65
    • (2012) The Lancet Neurology , 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
  • 28
    • 84873676245 scopus 로고    scopus 로고
    • C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
    • Gomez-Tortosa, E., Gallego, J., Guerreiro-Lopez, R., Marcos, A., Gil-Neciga, E., Sainz, M. J., et al. (2013). C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology, 80, 366-370
    • (2013) Neurology , vol.80 , pp. 366-370
    • Gomez-Tortosa, E.1    Gallego, J.2    Guerreiro-Lopez, R.3    Marcos, A.4    Gil-Neciga, E.5    Sainz, M.J.6
  • 29
    • 84896259966 scopus 로고    scopus 로고
    • 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., et al. (2014). C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature, 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
  • 30
    • 73949144503 scopus 로고    scopus 로고
    • TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the kii peninsula of Japan
    • Hara, K., Kokubo, Y., Ishiura, H., Fukuda, Y., Miyashita, A., Kuwano, R., et al. (2010). TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. Am J Med Genet B Neuropsychiatr Genet, 153b, 310-313
    • (2010) Am J Med Genet B Neuropsychiatr Genet , vol.153 , pp. 310-313
    • Hara, K.1    Kokubo, Y.2    Ishiura, H.3    Fukuda, Y.4    Miyashita, A.5    Kuwano, R.6
  • 31
    • 34249709931 scopus 로고    scopus 로고
    • TDP-43 is deposited in the Guam parkinsonism-dementia complex brains
    • Hasegawa, M., Arai, T., Akiyama, H., Nonaka, T., Mori, H., Hashimoto, T., et al. (2007). TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain, 130, 1386-1394
    • (2007) Brain , vol.130 , pp. 1386-1394
    • Hasegawa, M.1    Arai, T.2    Akiyama, H.3    Nonaka, T.4    Mori, H.5    Hashimoto, T.6
  • 32
    • 84940467082 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis
    • He, J., Tang, L., Benyamin, B., Shah, S., Hemani, G., Liu, R., et al. (2015). C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiol Aging
    • (2015) Neurobiol Aging
    • He, J.1    Tang, L.2    Benyamin, B.3    Shah, S.4    Hemani, G.5    Liu, R.6
  • 33
    • 84895768608 scopus 로고    scopus 로고
    • C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
    • Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., et al. (2014). C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology, 82, 292-299
    • (2014) Neurology , vol.82 , pp. 292-299
    • Hensman Moss, D.J.1    Poulter, M.2    Beck, J.3    Hehir, J.4    Polke, J.M.5    Campbell, T.6
  • 34
    • 73049132762 scopus 로고
    • Parkinsonism-dementia complex, an endemic disease on the island of Guam i
    • Hirano, A., Kurland, L. T., Krooth, R. S., &, Lessell, S. (1961a). Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features. Brain, 84, 642-661
    • (1961) Clinical Features. Brain , vol.84 , pp. 642-661
    • Hirano, A.1    Kurland, L.T.2    Krooth, R.S.3    Lessell, S.4
  • 35
    • 0000035923 scopus 로고
    • Parkinsonism-dementia complex, an endemic disease on the island of Guam II Pathological features
    • Hirano, A., Malamud, N., &, Kurland, L. T. (1961b). Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features. Brain, 84, 662-679
    • (1961) Brain , vol.84 , pp. 662-679
    • Hirano, A.1    Malamud, N.2    Kurland, L.T.3
  • 36
    • 0034605478 scopus 로고    scopus 로고
    • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    • Hosler, B. A., Siddique, T., Sapp, P. C., Sailor, W., Huang, M. C., Daube, J. R., et al. (2000). Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA, 284, 1664-1669
    • (2000) JAMA , vol.284 , pp. 1664-1669
    • Hosler, B.A.1    Siddique, T.2    Sapp, P.C.3    Sailor, W.4    Huang, M.C.5    Daube, J.R.6
  • 37
    • 79953033142 scopus 로고    scopus 로고
    • Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians
    • e13-14
    • Iida, A., Takahashi, A., Deng, M., Zhang, Y., Wang, J., Atsuta, N., et al. (2011). Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians. Neurobiol Aging, 32, 757 e13-14
    • (2011) Neurobiol Aging , vol.32 , pp. 757
    • Iida, A.1    Takahashi, A.2    Deng, M.3    Zhang, Y.4    Wang, J.5    Atsuta, N.6
  • 38
    • 84866058216 scopus 로고    scopus 로고
    • 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., et al. (2012). C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol, 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
  • 39
    • 84872361069 scopus 로고    scopus 로고
    • Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
    • e7-9
    • Jang, J. H., Kwon, M. J., Choi, W. J., Oh, K. W., Koh, S. H., Ki, C. S., &, Kim, S. H. (2013) Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging, 34, 1311 e7-9
    • (2013) Neurobiol Aging , vol.34 , pp. 1311
    • 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
  • 40
    • 85058205990 scopus 로고    scopus 로고
    • Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
    • e19-22
    • Jiao, B., Tang, B., Liu, X., Yan, X., Zhou, L., Yang, Y., et al. (2014). Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol Aging, 35, 936 e19-22
    • (2014) Neurobiol Aging , vol.35 , pp. 936
    • Jiao, B.1    Tang, B.2    Liu, X.3    Yan, X.4    Zhou, L.5    Yang, Y.6
  • 42
    • 84893740090 scopus 로고    scopus 로고
    • Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia
    • e13-17
    • Kim, E. J., Kwon, J. C., Park, K. H., Park, K. W., Lee, J. H., Choi, S. H., et al. (2014). Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiol Aging, 35, 1213 e13-17
    • (2014) Neurobiol Aging , vol.35 , pp. 1213
    • Kim, E.J.1    Kwon, J.C.2    Park, K.H.3    Park, K.W.4    Lee, J.H.5    Choi, S.H.6
  • 43
    • 84875226784 scopus 로고    scopus 로고
    • Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
    • Konno, T., Shiga, A., Tsujino, A., Sugai, A., Kato, T., Kanai, K., et al. (2013). Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry, 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
  • 45
    • 84914693305 scopus 로고    scopus 로고
    • C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome
    • Kostic, V. S., Dobricic, V., Stankovic, I., Ralic, V., &, Stefanova, E. (2014). C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome. J Neurol, 261, 1917-1921
    • (2014) J Neurol , vol.261 , pp. 1917-1921
    • Kostic, V.S.1    Dobricic, V.2    Stankovic, I.3    Ralic, V.4    Stefanova, E.5
  • 46
    • 84920405079 scopus 로고    scopus 로고
    • C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population
    • e13-16
    • Koutsis, G., Karadima, G., Kartanou, C., Kladi, A., &, Panas, M. (2015). C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population. Neurobiol Aging, 36, 547 e13-16
    • (2015) Neurobiol Aging , vol.36 , pp. 547
    • Koutsis, G.1    Karadima, G.2    Kartanou, C.3    Kladi, A.4    Panas, M.5
  • 48
    • 26444551246 scopus 로고    scopus 로고
    • Atypical parkinsonism of Japan: Amyotrophic lateral sclerosis-parkinsonism-dementia complex of the kii peninsula of Japan (Muro disease): An update
    • SUPPL
    • Kuzuhara, S., &, Kokubo, Y. (2005). Atypical parkinsonism of Japan: amyotrophic lateral sclerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update. Mov Disord, 20 Suppl 12, S108-113
    • (2005) Mov Disord , vol.2012 , pp. S108-113
    • Kuzuhara, S.1    Kokubo, Y.2
  • 49
    • 0035069990 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the kii Peninsula of Japan: Clinical and neuropathological study and tau analysis
    • Kuzuhara, S., Kokubo, Y., Sasaki, R., Narita, Y., Yabana, T., Hasegawa, M., &, Iwatsubo, T. (2001). Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. Ann Neurol, 49, 501-511
    • (2001) Ann Neurol , vol.49 , pp. 501-511
    • Kuzuhara, S.1    Kokubo, Y.2    Sasaki, R.3    Narita, Y.4    Yabana, T.5    Hasegawa, M.6    Iwatsubo, T.7
  • 51
    • 84888098632 scopus 로고    scopus 로고
    • Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
    • Lagier-Tourenne, C., Baughn, M., Rogo, F., Sun, S., Liu, P., Li, H.-R., et al. (2013). Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A, 110, E4530-4539
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. E4530-4539
    • Lagier-Tourenne, C.1    Baughn, M.2    Rogo, F.3    Sun, S.4    Liu, P.5    Li, H.-R.6
  • 52
    • 67049135828 scopus 로고    scopus 로고
    • Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
    • Le Ber, I., Camuzat, A., Berger, E., Hannequin, D., Laquerriere, A., Golfier, V., et al. (2009). Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology, 72, 1669-1676
    • (2009) Neurology , vol.72 , pp. 1669-1676
    • Le Ber, I.1    Camuzat, A.2    Berger, E.3    Hannequin, D.4    Laquerriere, A.5    Golfier, V.6
  • 53
    • 84890233174 scopus 로고    scopus 로고
    • Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
    • Lee, Y. B., Chen, H. J., Peres, J. N., Gomez-Deza, J., Attig, J., Stalekar, M., et al. (2013). Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell Rep, 5, 1178-1186
    • (2013) Cell Rep , vol.5 , pp. 1178-1186
    • Lee, Y.B.1    Chen, H.J.2    Peres, J.N.3    Gomez-Deza, J.4    Attig, J.5    Stalekar, M.6
  • 55
    • 84871392152 scopus 로고    scopus 로고
    • Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
    • Loomis, E. W., Eid, J. S., Peluso, P., Yin, J., Hickey, L., Rank, D., et al. (2013). Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Res, 23, 121-128
    • (2013) Genome Res , vol.23 , pp. 121-128
    • Loomis, E.W.1    Eid, J.S.2    Peluso, P.3    Yin, J.4    Hickey, L.5    Rank, D.6
  • 56
    • 54749127016 scopus 로고    scopus 로고
    • 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., et al. (2008). Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol, 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
  • 58
    • 84858622829 scopus 로고    scopus 로고
    • 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., et al. (2012b). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol, 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
  • 59
    • 84864083825 scopus 로고    scopus 로고
    • Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
    • Millecamps, S., Boillee, S., Le Ber, I., Seilhean, D., Teyssou, E., Giraudeau, M., et al. (2012). Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet, 49, 258-263
    • (2012) J Med Genet , vol.49 , pp. 258-263
    • Millecamps, S.1    Boillee, S.2    Le Ber, I.3    Seilhean, D.4    Teyssou, E.5    Giraudeau, M.6
  • 60
    • 84907188956 scopus 로고    scopus 로고
    • C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
    • Mizielinska, S., Gronke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., et al. (2014). C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science, 345, 1192-1194
    • (2014) Science , vol.345 , pp. 1192-1194
    • Mizielinska, S.1    Gronke, S.2    Niccoli, T.3    Ridler, C.E.4    Clayton, E.L.5    Devoy, A.6
  • 61
    • 84892585908 scopus 로고    scopus 로고
    • 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. (2013). C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol, 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
  • 63
    • 84861889360 scopus 로고    scopus 로고
    • High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    • e1-5
    • Mok, K. Y., Koutsis, G., Schottlaender, L. V., Polke, J., Panas, M., &, Houlden, H. (2012b). High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging, 33, 1851 e1-5
    • (2012) Neurobiol Aging , vol.33 , pp. 1851
    • Mok, K.Y.1    Koutsis, G.2    Schottlaender, L.V.3    Polke, J.4    Panas, M.5    Houlden, H.6
  • 65
    • 84892585689 scopus 로고    scopus 로고
    • 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., et al. (2013a). Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol, 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
  • 66
    • 84874962380 scopus 로고    scopus 로고
    • 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., et al. (2013b). The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science, 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
  • 67
    • 33645062075 scopus 로고    scopus 로고
    • 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., et al. (2006). A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology, 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
  • 69
    • 33749632259 scopus 로고    scopus 로고
    • 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., et al. (2006). Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science, 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
  • 70
    • 84864383816 scopus 로고    scopus 로고
    • Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
    • e11-16
    • Ogaki, K., Li, Y., Atsuta, N., Tomiyama, H., Funayama, M., Watanabe, H., et al. (2012). Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging, 33, 2527 e11-16
    • (2012) Neurobiol Aging , vol.33 , pp. 2527
    • Ogaki, K.1    Li, Y.2    Atsuta, N.3    Tomiyama, H.4    Funayama, M.5    Watanabe, H.6
  • 71
    • 84925293541 scopus 로고    scopus 로고
    • The distinct genetic pattern of ALS in Turkey and novel mutations
    • e764-18
    • Ozoguz, A., Uyan, O., Birdal, G., Iskender, C., Kartal, E., Lahut, S., et al. (2015) The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging, 36, 1764 e9-18
    • (2015) Neurobiol Aging , vol.36 , pp. e9
    • Ozoguz, A.1    Uyan, O.2    Birdal, G.3    Iskender, C.4    Kartal, E.5    Lahut, S.6
  • 72
    • 79953814616 scopus 로고    scopus 로고
    • 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., et al. (2011). Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol, 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
  • 73
    • 0034756931 scopus 로고    scopus 로고
    • TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam
    • Poorkaj, P., Tsuang, D., Wijsman, E., Steinbart, E., Garruto, R. M., Craig, U. K., et al. (2001). TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam. Arch Neurol, 58, 1871-1878
    • (2001) Arch Neurol , vol.58 , pp. 1871-1878
    • Poorkaj, P.1    Tsuang, D.2    Wijsman, E.3    Steinbart, E.4    Garruto, R.M.5    Craig, U.K.6
  • 74
    • 84864392867 scopus 로고    scopus 로고
    • C9ORF72 repeat expansion in a large Italian ALS cohort: Evidence of a founder effect
    • e7-14
    • Ratti, A., Corrado, L., Castellotti, B., Del Bo, R., Fogh, I., Cereda, C., et al. (2012). C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging, 33, 2528 e7-14
    • (2012) Neurobiol Aging , vol.33 , pp. 2528
    • Ratti, A.1    Corrado, L.2    Castellotti, B.3    Del Bo, R.4    Fogh, I.5    Cereda, C.6
  • 75
    • 84875981640 scopus 로고    scopus 로고
    • The disease-Associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni-And multimolecular RNA G-quadruplex structures
    • Reddy, K., Zamiri, B., Stanley, S. Y., Macgregor, R. B., Jr,. &, Pearson, C. E. (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
    • (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
  • 76
    • 80054837386 scopus 로고    scopus 로고
    • 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., et al. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 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
  • 78
    • 79953034868 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis
    • e1-7
    • Rollinson, S., Mead, S., Snowden, J., Richardson, A., Rohrer, J., Halliwell, N., et al. (2011). Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol Aging, 32, 758 e1-7
    • (2011) Neurobiol Aging , vol.32 , pp. 758
    • Rollinson, S.1    Mead, S.2    Snowden, J.3    Richardson, A.4    Rohrer, J.5    Halliwell, N.6
  • 80
    • 84886389563 scopus 로고    scopus 로고
    • Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
    • 208ra249
    • Sareen, D., O'Rourke, J. G., Meera, P., Muhammad, A. K. M. G., Grant, S., Simpkinson, M., et al. (2013). Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Trans Med, 5, 208ra 149
    • (2013) Sci Trans Med , vol.5
    • Sareen, D.1    O'Rourke, J.G.2    Meera, P.3    Muhammad, A.K.M.G.4    Grant, S.5    Simpkinson, M.6
  • 81
    • 77956877621 scopus 로고    scopus 로고
    • 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., et al. (2010). Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. The Lancet Neurology, 9, 986-994
    • (2010) Lancet Neurology , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3    Weale, M.E.4    Smith, B.5    Vance, C.6
  • 83
    • 70350764965 scopus 로고    scopus 로고
    • Identification of novel susceptibility loci for Guam neurodegenerative disease: Challenges of genome scans in genetic isolates
    • Sieh, W., Choi, Y., Chapman, N. H., Craig, U. K., Steinbart, E. J., Rothstein, J. H., et al. (2009). Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Hum Mol Genet, 18, 3725-3738
    • (2009) Hum Mol Genet , vol.18 , pp. 3725-3738
    • Sieh, W.1    Choi, Y.2    Chapman, N.H.3    Craig, U.K.4    Steinbart, E.J.5    Rothstein, J.H.6
  • 84
    • 84871219249 scopus 로고    scopus 로고
    • 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., et al. (2013). The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet, 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
  • 85
    • 84903815825 scopus 로고    scopus 로고
    • Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis
    • e1-6
    • Soong, B. W., Lin, K. P., Guo, Y. C., Lin, C. C., Tsai, P. C., Liao, Y. C., et al. (2014). Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging, 35, 2423 e1-6
    • (2014) Neurobiol Aging , vol.35 , pp. 2423
    • Soong, B.W.1    Lin, K.P.2    Guo, Y.C.3    Lin, C.C.4    Tsai, P.C.5    Liao, Y.C.6
  • 86
    • 84923658615 scopus 로고    scopus 로고
    • Defining neurodegeneration on Guam by targeted genomic sequencing
    • Steele, J. C., Guella, I., Szu-Tu, C., Lin, M. K., Thompson, C., Evans, D. M., et al. (2015). Defining neurodegeneration on Guam by targeted genomic sequencing. Ann Neurol, 77, 458-468
    • (2015) Ann Neurol , vol.77 , pp. 458-468
    • Steele, J.C.1    Guella, I.2    Szu-Tu, C.3    Lin, M.K.4    Thompson, C.5    Evans, D.M.6
  • 87
    • 33847406346 scopus 로고    scopus 로고
    • Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
    • Sundar, P. D., Yu, C. E., Sieh, W., Steinbart, E., Garruto, R. M., Oyanagi, K., et al. (2007). Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet, 16, 295-306
    • (2007) Hum Mol Genet , vol.16 , pp. 295-306
    • Sundar, P.D.1    Yu, C.E.2    Sieh, W.3    Steinbart, E.4    Garruto, R.M.5    Oyanagi, K.6
  • 88
    • 84890439549 scopus 로고    scopus 로고
    • ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19
    • Takahashi, Y., Fukuda, Y., Yoshimura, J., Toyoda, A., Kurppa, K., Moritoyo, H., et al. (2013). ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet, 93, 900-905
    • (2013) Am J Hum Genet , vol.93 , pp. 900-905
    • Takahashi, Y.1    Fukuda, Y.2    Yoshimura, J.3    Toyoda, A.4    Kurppa, K.5    Moritoyo, H.6
  • 89
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, K. L., McCurrach, M., Schalling, M., Housman, D., &, Singer, R. H. (1995). Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol, 128, 995-1002
    • (1995) J Cell Biol , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 90
    • 84877331220 scopus 로고    scopus 로고
    • CGG repeat-Associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
    • 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
    • (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
  • 91
    • 61449229465 scopus 로고    scopus 로고
    • Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the kii peninsula, Japan
    • Tomiyama, H., Kokubo, Y., Sasaki, R., Li, Y., Imamichi, Y., Funayama, M., et al. (2008). Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. Mov Disord, 23, 2344-2348
    • (2008) Mov Disord , vol.23 , pp. 2344-2348
    • Tomiyama, H.1    Kokubo, Y.2    Sasaki, R.3    Li, Y.4    Imamichi, Y.5    Funayama, M.6
  • 92
    • 84863482648 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
    • e11-2232 e18
    • Tsai, C. P., Soong, B. W., Tu, P. H., Lin, K. P., Fuh, J. L., Tsai, P. C., et al. (2012). A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol Aging, 33, 2232 e11-2232 e18
    • (2012) Neurobiol Aging , vol.33 , pp. 2232
    • Tsai, C.P.1    Soong, B.W.2    Tu, P.H.3    Lin, K.P.4    Fuh, J.L.5    Tsai, P.C.6
  • 93
    • 33846945446 scopus 로고    scopus 로고
    • Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p
    • Valdmanis, P. N., Dupre, N., Bouchard, J.-P., Camu, W., Salachas, F., Meringer, V., et al. (2007). Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol, 64, 240-245
    • (2007) Arch Neurol , vol.64 , pp. 240-245
    • Valdmanis, P.N.1    Dupre, N.2    Bouchard, J.-P.3    Camu, W.4    Salachas, F.5    Meringer, V.6
  • 94
    • 84884163243 scopus 로고    scopus 로고
    • Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study
    • van Blitterswijk, M., DeJesus-Hernandez, M., Niemantsverdriet, E., Murray, M. E., Heckman, M. G., Diehl, N. N., et al. (2013). Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. The Lancet Neurology, 12, 978-988
    • (2013) The Lancet Neurology , vol.12 , pp. 978-988
    • Van Blitterswijk, M.1    DeJesus-Hernandez, M.2    Niemantsverdriet, E.3    Murray, M.E.4    Heckman, M.G.5    Diehl, N.N.6
  • 96
    • 84873093810 scopus 로고    scopus 로고
    • A pan-European study of the C9orf72 repeat associated with FTLD: Geographic prevalence, genomic insta bility, and intermediate repeats
    • van der Zee, J., Gijselinck, I., Dillen, L., Van Langenhove, T., Theuns, J., Engelborghs, S., et al. (2013). A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic insta bility, and intermediate repeats. Hum Mutat, 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
  • 97
    • 70349592269 scopus 로고    scopus 로고
    • 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., et al. (2009). Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet, 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
  • 98
    • 33645069660 scopus 로고    scopus 로고
    • 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., et al. (2006). Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain, 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
  • 99
    • 84903819307 scopus 로고    scopus 로고
    • Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
    • e1-2421 e12
    • Vatovec, S., Kovanda, A., &, Rogelj, B. (2014). Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neurobiol Aging, 35, 2421 e1-2421 e12
    • (2014) Neurobiol Aging , vol.35 , pp. 2421
    • Vatovec, S.1    Kovanda, A.2    Rogelj, B.3
  • 101
    • 85056706559 scopus 로고    scopus 로고
    • Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
    • e5-1779 e13
    • Waite, A. J., Baumer, D., East, S., Neal, J., Morris, H. R., Ansorge, O., &, Blake, D. J. (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 e5-1779 e13
    • (2014) Neurobiol Aging , vol.35 , pp. 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
  • 102
    • 84926357619 scopus 로고    scopus 로고
    • Antisense proline-Arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
    • Wen, X., Tan, W., Westergard, T., Krishnamurthy, K., Markandaiah, S. S., Shi, Y., et al. (2014). Antisense proline-Arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron, 84, 1213-1225
    • (2014) Neuron , vol.84 , pp. 1213-1225
    • Wen, X.1    Tan, W.2    Westergard, T.3    Krishnamurthy, K.4    Markandaiah, S.S.5    Shi, Y.6
  • 104
    • 80052716635 scopus 로고    scopus 로고
    • Cellular toxicity of expanded RNA repeats: Focus on RNA foci
    • Wojciechowska, M., &, Krzyzosiak, W. J. (2011). Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum Mol Genet, 20, 3811-3821
    • (2011) Hum Mol Genet , vol.20 , pp. 3811-3821
    • Wojciechowska, M.1    Krzyzosiak, W.J.2
  • 105
    • 84865235172 scopus 로고    scopus 로고
    • Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    • Wu, C. H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., et al. (2012). Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature, 488, 499-503
    • (2012) Nature , vol.488 , pp. 499-503
    • Wu, C.H.1    Fallini, C.2    Ticozzi, N.3    Keagle, P.J.4    Sapp, P.C.5    Piotrowska, K.6
  • 106
    • 84911382953 scopus 로고    scopus 로고
    • Hypermethylation of the CpG-island near the C9orf72 G(4)C(2)-repeat expansion in FTLD patients
    • Xi, Z., Rainero, I., Rubino, E., Pinessi, L., Bruni, A. C., Maletta, R. G., et al. (2014). Hypermethylation of the CpG-island near the C9orf72 G(4)C(2)-repeat expansion in FTLD patients. Hum Mol Genet, 23, 5630-5637
    • (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
  • 108
    • 84878863605 scopus 로고    scopus 로고
    • Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion
    • Xi, Z., Zinman, L., Moreno, D., Schymick, J., Liang, Y., Sato, C., et al. (2013). Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet, 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
  • 109
    • 84875241102 scopus 로고    scopus 로고
    • Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
    • e5-6
    • Zou, Z. Y., Li, X. G., Liu, M. S., &, Cui, L. Y. (2013). Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging, 34, 1710 e5-6
    • (2013) Neurobiol Aging , vol.34 , pp. 1710
    • Zou, Z.Y.1    Li, X.G.2    Liu, M.S.3    Cui, L.Y.4
  • 111
    • 84890837640 scopus 로고    scopus 로고
    • RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
    • Zu, T., Liu, Y., Banez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., et al. (2013). RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A, 110, E4968-4977
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. E4968-4977
    • Zu, T.1    Liu, Y.2    Banez-Coronel, M.3    Reid, T.4    Pletnikova, O.5    Lewis, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.