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Neurological Sciences
Volumn 26, Issue 5, 2005, Pages 349-350
A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease
Author keywords

Beta amyloid; Familial Alzheimer's disease; Gene mutations; Presenilin 1
Indexed keywords

GAMMA SECRETASE; HISTIDINE; LEUCINE; PRESENILIN 1;
EID: 30744433615     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-005-0499-1     Document Type: Article
Times cited : (13)
References (7)
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  • 2
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    • The impact of different presenilin-1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: Evidence for other phenotype-modifying factors
    • Gomez-Isla T, Growdon WB, McNamara MJ et al (1999) The impact of different presenilin-1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: Evidence for other phenotype-modifying factors. Brain 122:1709-1719
    • (1999) Brain , vol.122 , pp. 1709-1719
    • Gomez-Isla, T.1    Growdon, W.B.2    McNamara, M.J.3
  • 3
    • 16644396131 scopus 로고    scopus 로고
    • Pathological and clinical heterogeneity of presenilin-1 gene mutations
    • Menendez M (2004) Pathological and clinical heterogeneity of presenilin-1 gene mutations. J Alzheimers Dis 6:475-482
    • (2004) J Alzheimers Dis , vol.6 , pp. 475-482
    • Menendez, M.1
  • 4
    • 15244341378 scopus 로고    scopus 로고
    • Familial Alzheimer's disease presenilin-1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein
    • Berezovska O, Lleo A, Herl LD et al (2005) Familial Alzheimer's disease presenilin-1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J Neurosci 25:3009-3017
    • (2005) J Neurosci , vol.25 , pp. 3009-3017
    • Berezovska, O.1    Lleo, A.2    Herl, L.D.3
  • 5
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    • Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139
    • Hanisch F, Kolmel HW (2004) Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139. Eur J Med Res 9:361-364
    • (2004) Eur J Med Res , vol.9 , pp. 361-364
    • Hanisch, F.1    Kolmel, H.W.2
  • 6
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    • Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin-1 mutation (Phe237Ile)
    • Sodeyama N, Iwata T, Ishikawa K et al (2001) Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin-1 mutation (Phe237Ile). J Neurol Neurosurg Psychiatry 71:556-557
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 556-557
    • Sodeyama, N.1    Iwata, T.2    Ishikawa, K.3
  • 7
    • 21144447065 scopus 로고    scopus 로고
    • Dissociated phenotypes in presenilin transgenic mice define functionally distinct γ-secretases
    • Mastrangelo P, Mathews PM, Chishti MA et al (2005) Dissociated phenotypes in presenilin transgenic mice define functionally distinct γ-secretases. Proc Natl Acad Sci USA 102:8972-8977
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 8972-8977
    • Mastrangelo, P.1    Mathews, P.M.2    Chishti, M.A.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.