Phenotype and functional consequences of a novel mutation in the presenilin 1 gene in a family with early-onset Alzheimer's disease

被引:0
|
作者
Lleó, A
Queralt, R
Ezquerra, M
Gelpí, JL
Castellví, M
Acarín, N
Pasarin, L
Blesa, R
Oliva, R
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:A114 / A114
页数:1
相关论文
共 50 条
  • [1] Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene
    Golan, M. P.
    Styczynska, M.
    Jozwiak, K.
    Walecki, J.
    Maruszak, A.
    Pniewski, J.
    Lugiewicz, R.
    Filipek, S.
    Zekanowski, C.
    Barcikowska, M.
    EXPERIMENTAL NEUROLOGY, 2007, 208 (02) : 264 - 268
  • [2] Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation
    Goldman, JS
    Reed, B
    Gearhart, R
    Kramer, JH
    Miller, BL
    INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, 2002, 17 (07) : 649 - 651
  • [3] Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation
    Navarro, Eloisa
    De Andres, Clara
    Guerrero, Carmen
    Gimenez-Roldan, Santiago
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (04): : 388 - 394
  • [4] Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
    Smith, MJ
    Gardner, RJM
    Knight, MA
    Forrest, SM
    Beyreuther, K
    Storey, E
    McLean, CA
    Cotton, RGH
    Cappal, R
    Masters, CL
    NEUROREPORT, 1999, 10 (03) : 503 - 507
  • [5] Splicing mutation of Presenilin-1 gene for early-onset familial Alzheimer's disease
    Sato, S
    Kamino, K
    Miki, T
    Doi, A
    Ii, K
    St George-Hyslop, PH
    Ogihara, T
    Sakaki, Y
    HUMAN MUTATION, 1998, : S91 - S94
  • [6] A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features
    Nygaard, Haakon B.
    Lippa, Carol F.
    Mehdi, Djekidel
    Baehring, Joachim M.
    AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS, 2014, 29 (05): : 433 - 435
  • [7] A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease
    Guo, Jifeng
    Wei, Jiaohua
    Liao, Shusheng
    Wang, Lei
    Jiang, Hong
    Tang, Beisha
    NEUROSCIENCE LETTERS, 2010, 468 (01) : 34 - 37
  • [8] A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease
    La Bella, V
    Liguori, M
    Cittadella, R
    Settipani, N
    Piccoli, T
    Manna, I
    Quattrone, A
    Piccoli, F
    EUROPEAN JOURNAL OF NEUROLOGY, 2004, 11 (08) : 521 - 524
  • [9] Novel Presenilin 1 and Presenilin 2 mutations in early-onset Alzheimer's disease families
    Nacmias, B
    Tedde, A
    Ciantelli, M
    Cellini, E
    Bagnoli, S
    Forleo, P
    Caffarra, P
    Ghidoni, E
    Piccini, C
    Bracco, L
    Sorbi, S
    NEUROLOGY, 2002, 58 (07) : A37 - A37
  • [10] A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease
    Zhan, Yihong
    Zheng, Honghua
    Wang, Chen
    Rong, Zhouyi
    Xiao, Naian
    Ma, Qilin
    Zhang, Yun-wu
    NEUROBIOLOGY OF AGING, 2017, 50 : 168.e1 - 168.e4