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Volumn 70, Issue 10, 2013, Pages 1302-1304

Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 2; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 84885818460     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.443     Document Type: Article
Times cited : (32)

References (13)
  • 1
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type
    • Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type Nat Genet. 1996;14(3):269-276.
    • (1996) Nat Genet. , vol.14 , Issue.3 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 2
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466(7310):1069-1075.
    • (2010) Nature. , vol.466 , Issue.7310 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3
  • 3
    • 79953176451 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
    • Lee T, Li YR, Ingre C, et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet. 2011;20(9):1697-1700.
    • (2011) Hum Mol Genet. , vol.20 , Issue.9 , pp. 1697-1700
    • Lee, T.1    Li, Y.R.2    Ingre, C.3
  • 4
    • 80054874200 scopus 로고    scopus 로고
    • ATXN-2 CAG repeat expansions are interrupted in ALS patients
    • Corrado L, Mazzini L, Oggioni GD, et al. ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet. 2011;130(4):575-580.
    • (2011) Hum Genet. , vol.130 , Issue.4 , pp. 575-580
    • Corrado, L.1    Mazzini, L.2    Oggioni, G.D.3
  • 5
    • 79960811611 scopus 로고    scopus 로고
    • Ataxin-2 repeat-length variation and neurodegeneration
    • Ross OA, Rutherford NJ, Baker M, et al. Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet. 2011;20(16):3207-3212.
    • (2011) Hum Mol Genet. , vol.20 , Issue.16 , pp. 3207-3212
    • Ross, O.A.1    Rutherford, N.J.2    Baker, M.3
  • 6
    • 79958746230 scopus 로고    scopus 로고
    • Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
    • Daoud H, Belzil V, Martins S, et al. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol. 2011;68(6):739-742.
    • (2011) Arch Neurol. , vol.68 , Issue.6 , pp. 739-742
    • Daoud, H.1    Belzil, V.2    Martins, S.3
  • 7
    • 79959653680 scopus 로고    scopus 로고
    • Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
    • Van Damme P, Veldink JH, van Blitterswijk M, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology. 2011;76(24):2066-2072.
    • (2011) Neurology. , vol.76 , Issue.24 , pp. 2066-2072
    • Van Damme, P.1    Veldink, J.H.2    Van Blitterswijk, M.3
  • 8
    • 79958763814 scopus 로고    scopus 로고
    • ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
    • Sorarù G, Clementi M, Forzan M, et al. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology. 2011;76(23):2030-2031.
    • (2011) Neurology. , vol.76 , Issue.23 , pp. 2030-2031
    • Sorarù, G.1    Clementi, M.2    Forzan, M.3
  • 9
    • 80051566617 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine: A possible risk factor for Chinese patients with amyotrophic lateral sclerosis
    • Chen Y, Huang R, Yang Y, et al. Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32(10):e1-e5.
    • (2011) Neurobiol Aging. , vol.32 , Issue.10
    • Chen, Y.1    Huang, R.2    Yang, Y.3
  • 10
    • 84861888532 scopus 로고    scopus 로고
    • ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: Risk factor or variant phenotype? Implication for genetic testing and counseling
    • Gellera C, Ticozzi N, Pensato V, et al. ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? implication for genetic testing and counseling. Neurobiol Aging. 2012;33(8):e15-e21.
    • (2012) Neurobiol Aging. , vol.33 , Issue.8
    • Gellera, C.1    Ticozzi, N.2    Pensato, V.3
  • 11
    • 84865861392 scopus 로고    scopus 로고
    • Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions
    • Hart MP, Brettschneider J, Lee VM, Trojanowski JQ, Gitler AD. Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions. Acta Neuropathol. 2012;124(2): 221-230.
    • (2012) Acta Neuropathol. , vol.124 , Issue.2 , pp. 221-230
    • Hart, M.P.1    Brettschneider, J.2    Lee, V.M.3    Trojanowski, J.Q.4    Gitler, A.D.5
  • 12
    • 80855131505 scopus 로고    scopus 로고
    • Model organisms reveal insight into human neurodegenerative disease: Ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS
    • Bonini NM, Gitler AD. Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. J Mol Neurosci. 2011;45(3):676-683.
    • (2011) J Mol Neurosci. , vol.45 , Issue.3 , pp. 676-683
    • Bonini, N.M.1    Gitler, A.D.2
  • 13
    • 84863431578 scopus 로고    scopus 로고
    • ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications
    • Hart MP, Gitler AD. ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J Neurosci. 2012;32(27):9133-9142.
    • (2012) J Neurosci. , vol.32 , Issue.27 , pp. 9133-9142
    • Hart, M.P.1    Gitler, A.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.