메뉴 건너뛰기




Volumn 14, Issue 2, 2013, Pages 138-140

Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene

Author keywords

Amyotrophic lateral sclerosis; Mutation; Optineurin; Phenotype

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; COGNITION; CONTROLLED STUDY; FAMILY HISTORY; FASCICULATION; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; MALE; OPTN GENE; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL;

EID: 84875470602     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2012.756525     Document Type: Article
Times cited : (9)

References (9)
  • 1
  • 2
    • 78651343770 scopus 로고    scopus 로고
    • O ptineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling
    • Swarup G, N agabhushana A . O ptineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling . J Biosci . 2010; 35: 501-5 .
    • (2010) J Biosci. , vol.35 , pp. 501-505
    • Swarup, G.1    Nagabhushana, A.2
  • 3
    • 80051563478 scopus 로고    scopus 로고
    • Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
    • Deng HX, B igio EH, Z hai H, F ecto F, A jroud K, S hi Y, et al . Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations . Arch Neurol . 2011; 68: 1057-61 .
    • (2011) Arch Neurol. , vol.68 , pp. 1057-1061
    • Deng, H.X.1    Bigio, E.H.2    Zhai, H.3    Fecto, F.4    Ajroud, K.5    Shi, Y.6
  • 5
    • 80051570216 scopus 로고    scopus 로고
    • Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
    • Sugihara K, Maruyama H, Kamada M, Morino H, Kawakami H . Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population . Neurobiol Aging . 2011; 32: 9-10 .
    • (2011) Neurobiol Aging. , vol.32 , pp. 9-10
    • Sugihara, K.1    Maruyama, H.2    Kamada, M.3    Morino, H.4    Kawakami, H.5
  • 6
    • 79960837950 scopus 로고    scopus 로고
    • Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation
    • Ito H, Nakamura M, K omure O, Ayaki T, W ate R, M aruyama H, et al . Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation . Acta Neuropathol . 2011; 122: 223-9 .
    • (2011) Acta Neuropathol. , vol.122 , pp. 223-229
    • Ito, H.1    Nakamura, M.2    Komure, O.3    Ayaki, T.4    Wate, R.5    Maruyama, H.6
  • 8
    • 81355147499 scopus 로고    scopus 로고
    • A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS
    • T ü mer Z, B ertelsen B, G redal O, M agyari M, N ielsen K C, Lucamp L, et al . A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS . Neurobiol Aging . 2012; 33: 1-5 .
    • (2012) Neurobiol Aging. , vol.33 , pp. 1-5
    • Mer, Z.T.Ü.1    Bertelsen, B.2    Gredal, O.3    Magyari, M.4    Nielsen, K.C.5    Lucamp, L.6
  • 9
    • 84866127864 scopus 로고    scopus 로고
    • Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation
    • (Epub ahead of print)
    • Katz J S, Katzberg H D, Woolley S C, Marklund S L, Andersen P M . Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation . Amyotroph Lateral Scler . 2012 (Epub ahead of print) .
    • (2012) Amyotroph Lateral Scler.
    • Katz, J.S.1    Katzberg, H.D.2    Woolley, S.C.3    Marklund, S.L.4    Andersen, P.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.