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Volumn 17, Issue 9, 2012, Pages 875-879

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(23)  Pottier, C a,b   Hannequin, D a,b   Coutant, S a,b   Rovelet Lecrux, A a,b   Wallon, D a,b   Rousseau, S a,b   Legallic, S a,b   Paquet, C c   Bombois, S b,d   Pariente, J e   Thomas Anterion, C f   Michon, A b,g   Croisile, B h   Etcharry Bouyx, F i   Berr, C j   Dartigues, J F j   Amouyel, P k   Dauchel, H l   Boutoleau Bretonniere C m   Thauvin, C n   more..


Author keywords

Alzheimer; exome; mutation; SORL1

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; MEMBRANE PROTEIN; PRESENILIN 1; PRESENILIN 2; SORL1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84866368227     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2012.15     Document Type: Article
Times cited : (224)

References (10)
  • 3
    • 84861202762 scopus 로고    scopus 로고
    • A genome wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease
    • advance online publication 14 December (e-pub ahead of print)
    • Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S et al. A genome wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet; advance online publication 14 December 2011 (e-pub ahead of print).
    • (2011) Eur J Hum Genet
    • Rovelet-Lecrux, A.1    Legallic, S.2    Wallon, D.3    Flaman, J.M.4    Martinaud, O.5    Bombois, S.6
  • 6
    • 78651297619 scopus 로고    scopus 로고
    • Metaanalysis of the association between variants in SORL1 and Alzheimer disease
    • Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Zou F et al. Metaanalysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 2011; 68: 99-106.
    • (2011) Arch Neurol , vol.68 , pp. 99-106
    • Reitz, C.1    Cheng, R.2    Rogaeva, E.3    Lee, J.H.4    Tokuhiro, S.5    Zou, F.6
  • 7
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 8
    • 33644516276 scopus 로고    scopus 로고
    • Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11
    • Andersen OM, Schmidt V, Spoelgen R, Gliemann J, Behlke J, Galatis D et al. Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11. Biochemistry 2006; 45: 2618-2628.
    • (2006) Biochemistry , vol.45 , pp. 2618-2628
    • Andersen, O.M.1    Schmidt, V.2    Spoelgen, R.3    Gliemann, J.4    Behlke, J.5    Galatis, D.6
  • 9
    • 68549128595 scopus 로고    scopus 로고
    • The Vps10p-domain receptor family
    • Hermey G. The Vps10p-domain receptor family. Cell Mol Life Sci 2009; 66: 2677-2689.
    • (2009) Cell Mol Life Sci , vol.66 , pp. 2677-2689
    • Hermey, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.