메뉴 건너뛰기




Volumn 260, Issue 4, 2013, Pages 1177-1179

Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

EID: 84876461895     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6879-1     Document Type: Letter
Times cited : (7)

References (16)
  • 3
    • 11144356369 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Clinical features, genetics, an pathogenesis
    • 15099544 10.1016/S1474-4422(04)00737-9
    • Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, an pathogenesis. Lancet Neurol 3:291-304
    • (2004) Lancet Neurol , vol.3 , pp. 291-304
    • Schöls, L.1    Bauer, P.2    Schmidt, T.3    Schulte, T.4    Riess, O.5
  • 4
    • 78649810954 scopus 로고    scopus 로고
    • Cognitive repercussions of hereditary cerebellar disorders
    • 19539904 10.1016/j.cortex.2009.04.012
    • Manto M, Lorivel T (2011) Cognitive repercussions of hereditary cerebellar disorders. Cortex 47:81-100
    • (2011) Cortex , vol.47 , pp. 81-100
    • Manto, M.1    Lorivel, T.2
  • 5
    • 84867525450 scopus 로고    scopus 로고
    • Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation
    • 22766738 1:CAS:528:DC%2BC38Xhs1GqsLzK
    • Sepulveda-Falla D, Glatzel M, Lopera F (2012) Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. J Alzheimers Dis 32:1-12
    • (2012) J Alzheimers Dis , vol.32 , pp. 1-12
    • Sepulveda-Falla, D.1    Glatzel, M.2    Lopera, F.3
  • 8
    • 0034975365 scopus 로고    scopus 로고
    • Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease
    • Mann DM, Pickering-Brown SM, Takeuchi A, Iwatsubo T, Members of the Familial Alzheimer's Disease Pathology Study Group 10.1016/S0002-9440(10)64688-3
    • Mann DM, Pickering-Brown SM, Takeuchi A, Iwatsubo T, Members of the Familial Alzheimer's Disease Pathology Study Group (2001) Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Patho 158:2165-2175
    • (2001) Am J Patho , vol.158 , pp. 2165-2175
  • 9
    • 18444391830 scopus 로고    scopus 로고
    • Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production
    • 12048239 10.1073/pnas.112686799 1:CAS:528:DC%2BD38XkvVGjtLw%3D
    • Moehlmann T, Winkler E, Xia X, Edbauer D, Murrell J, Capell A, Kaether C, Zheng H, Ghetti B, Haass C, Steiner H (2002) Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. Proc Natl Acad Sci USA 99:8025-8030
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 8025-8030
    • Moehlmann, T.1    Winkler, E.2    Xia, X.3    Edbauer, D.4    Murrell, J.5    Capell, A.6    Kaether, C.7    Zheng, H.8    Ghetti, B.9    Haass, C.10    Steiner, H.11
  • 13
    • 84868508416 scopus 로고    scopus 로고
    • A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings
    • 23046926 10.1016/j.neulet.2012.09.040 1:CAS:528:DC%2BC38XhsFymtLrP
    • Kim J, Bagyinszky E, Chang YH, Choe G, Choi BO, An SS, Kim S (2012) A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings. Neurosci Lett 530:109-114
    • (2012) Neurosci Lett , vol.530 , pp. 109-114
    • Kim, J.1    Bagyinszky, E.2    Chang, Y.H.3    Choe, G.4    Choi, B.O.5    An, S.S.6    Kim, S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.