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Volumn 35, Issue 4, 2014, Pages 936.e19-936.e22

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China

Author keywords

Amyotrophic lateral sclerosis; C9orf72; Frontotemporal dementia; Hexanucleotide repeats; Risk haplotype

Indexed keywords

HEXANUCLEOTIDE; NUCLEOTIDE; UNCLASSIFIED DRUG;

EID: 85058205990     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.10.001     Document Type: Article
Times cited : (61)

References (21)
  • 1
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
    • Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurology 2011, 7:603-615.
    • (2011) Nat. Rev. Neurology , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 3
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis: Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical Limits of Amyotrophic Lateral Sclerosis" Workshop Contributors
    • Brooks B.R. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis: Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical Limits of Amyotrophic Lateral Sclerosis" Workshop Contributors. J.Neurol. Sci. 1994, 124(suppl):96-107.
    • (1994) J.Neurol. Sci. , vol.124 , Issue.SUPPL. , pp. 96-107
    • Brooks, B.R.1
  • 4
    • 84868204382 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: current knowledge and future challenges
    • Cerami C., Scarpini E., Cappa S.F., Galimberti D. Frontotemporal lobar degeneration: current knowledge and future challenges. J.Neurol. 2012, 259:2278-2286.
    • (2012) J.Neurol. , vol.259 , pp. 2278-2286
    • Cerami, C.1    Scarpini, E.2    Cappa, S.F.3    Galimberti, D.4
  • 7
    • 80755128213 scopus 로고    scopus 로고
    • Clinical diagnosis and management of amyotrophic lateral sclerosis
    • Hardiman O., van den Berg L.H., Kiernan M.C. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat. Rev. Neurology 2011, 7:639-649.
    • (2011) Nat. Rev. Neurology , vol.7 , pp. 639-649
    • Hardiman, O.1    van den Berg, L.H.2    Kiernan, M.C.3
  • 8
    • 84872361069 scopus 로고    scopus 로고
    • 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.e7-1311.e9.
    • (2013) Neurobiol. Aging , vol.34
    • 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
  • 11
    • 0028223015 scopus 로고
    • Clinical and neuropathological criteria for frontotemporal dementia
    • Lund and Manchester Groups Clinical and neuropathological criteria for frontotemporal dementia. J.Neurol. Neurosurg. Psychiatry 1994, 57:416-418.
    • (1994) J.Neurol. Neurosurg. Psychiatry , vol.57 , pp. 416-418
    • Lund and Manchester Groups1
  • 15
    • 39749187585 scopus 로고    scopus 로고
    • Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
    • Pickering-Brown S.M., Rollinson S., Du Plessis D., Morrison K.E., Varma A., Richardson A.M., Neary D., Snowden J.S., Mann D.M. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain 2008, 131:721-731.
    • (2008) Brain , vol.131 , pp. 721-731
    • Pickering-Brown, S.M.1    Rollinson, S.2    Du Plessis, D.3    Morrison, K.E.4    Varma, A.5    Richardson, A.M.6    Neary, D.7    Snowden, J.S.8    Mann, D.M.9
  • 16
    • 78751579187 scopus 로고    scopus 로고
    • Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management
    • Piguet O., Hornberger M., Mioshi E., Hodges J.R. Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management. Lancet Neurol. 2011, 10:162-172.
    • (2011) Lancet Neurol. , vol.10 , pp. 162-172
    • Piguet, O.1    Hornberger, M.2    Mioshi, E.3    Hodges, J.R.4
  • 17
    • 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., Pearson C.E. 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. 2013, 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
  • 19
    • 84863731336 scopus 로고    scopus 로고
    • Widespread structural and functional connectivity changes in amyotrophic lateral sclerosis: insights from advanced neuroimaging research
    • Trojsi F., Monsurro M.R., Esposito F., Tedeschi G. Widespread structural and functional connectivity changes in amyotrophic lateral sclerosis: insights from advanced neuroimaging research. Neural Plast. 2012, 2012:473538.
    • (2012) Neural Plast. , vol.2012 , pp. 473538
    • Trojsi, F.1    Monsurro, M.R.2    Esposito, F.3    Tedeschi, G.4
  • 21
    • 84875241102 scopus 로고    scopus 로고
    • 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.e5-1710.e6.
    • (2013) Neurobiol. Aging , vol.34
    • Zou, Z.Y.1    Li, X.G.2    Liu, M.S.3    Cui, L.Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.