user

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism

被引：0
|
作者：
L. Bernardi
C. Tomaino
M. Anfossi
M. Gallo
S. Geracitano
G. Puccio
R. Colao
F. Frangipane
M. Mirabelli
N. Smirne
R. Giovanni Maletta
A. C. Bruni
机构：
[1] Regional Neurogenetic Centre AS6,
[2] Centro Regionale di Neurogenetica ASL 6,undefined
来源：
Journal of Neurology | 2008年 / 255卷
关键词：
APOE Genotype; Amyloid Precursor Protein Gene; Val139Met Mutation; Molecular Genetic Screening; Region Health Department;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：604 / 606
页数：2
相关论文
共 50 条
  • [1] Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism
    Bernardi, Livia
    Tomaino, Carmine
    Anfossi, Maria
    Gallo, Maura
    Geracitano, Silvana
    Puccio, Gianfranco
    Colao, Rosanna
    Frangipane, Francesca
    Mirabelli, Maria
    Smirne, Nicoletta
    Maletta, Raffaele Giovanni
    Bruni, Amalia C.
    [J]. JOURNAL OF NEUROLOGY, 2008, 255 (04) : 604 - 606
  • [2] Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population
    Albani, Diego
    Roiter, Ignazio
    Artuso, Vladimiro
    Batelli, Sara
    Prato, Francesca
    Pesaresi, Marzia
    Galimberti, Daniela
    Scarpini, Elio
    Bruni, Amalia
    Franceschi, Massimo
    Piras, Maria Rita
    Confaloni, Annamaria
    Forloni, Gianluigi
    [J]. NEUROBIOLOGY OF AGING, 2007, 28 (11) : 1682 - 1688
  • [3] Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
    Helisalmi, S
    Hiltunen, M
    Mannermaa, A
    Koivisto, AM
    Lehtovirta, M
    Alafuzoff, I
    Ryynänen, M
    Soininen, H
    [J]. NEUROSCIENCE LETTERS, 2000, 278 (1-2) : 65 - 68
  • [4] Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism
    Aldudo, J
    Bullido, MJ
    Frank, A
    Valdivieso, F
    [J]. ANNALS OF NEUROLOGY, 1998, 44 (06) : 985 - 986
  • [5] Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V
    Batelli, Sara
    Albani, Diego
    Prato, Francesca
    Polito, Letizia
    Franceschi, Massinio
    Gavazzi, Armando
    Forloni, Gianluigi
    [J]. ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 2008, 22 (02): : 184 - 187
  • [6] Presenilin E318G variant and Alzheimer's disease risk: the Cache County study
    Hippen, Ariel A.
    Ebbert, Mark T. W.
    Norton, Maria C.
    Tschanz, JoAnn T.
    Munger, Ronald G.
    Corcoran, Christopher D.
    Kauwe, John S. K.
    [J]. BMC GENOMICS, 2016, 17
  • [7] Presenilin E318G variant and Alzheimer’s disease risk: the Cache County study
    Ariel A. Hippen
    Mark T. W. Ebbert
    Maria C. Norton
    JoAnn T. Tschanz
    Ronald G. Munger
    Christopher D. Corcoran
    John S. K. Kauwe
    [J]. BMC Genomics, 17
  • [8] A novel mutation in the presenilin-1 (PS1) gene (A431E) associated with early-onset Alzheimer disease (AD).
    Cochran, EJ
    Murrell, JR
    Fox, J
    Ringman, J
    Ghetti, B
    [J]. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2001, 60 (05): : 544 - 544
  • [9] Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer's Disease in a Family with Late-onset Dementia
    Artuso, Vladimiro
    Benussi, Luisa
    Ghidoni, Roberta
    Moradi-Bachiller, Soraya
    Fusco, Federica
    Curtolo, Stefano
    Roiter, Ignazio
    Forloni, Gianluigi
    Albani, Diego
    [J]. CURRENT ALZHEIMER RESEARCH, 2019, 16 (01) : 1 - 7
  • [10] Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation
    Goldman, JS
    Reed, B
    Gearhart, R
    Kramer, JH
    Miller, BL
    [J]. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, 2002, 17 (07) : 649 - 651
12345