A novel PSEN1 mutation in a family with late-onset Alzheimer's disease

被引:0
|
作者
Ricca, I. [1 ]
Valente, M. [1 ]
Grieco, G. S. [1 ]
Bini, P. [2 ]
Vitali, P. [3 ]
Cereda, C. [1 ]
机构
[1] C Mondino Natl Inst Neurol Fdn, Ctr Genom & Postgenom, Pavia, Italy
[2] C Mondino Natl Inst Neurol Fdn, Neurol Dept, Pavia, Italy
[3] C Mondino Natl Inst Neurol Fdn, Neuroradiol & Brain MRI Mondino Res Ctr, Pavia, Italy
关键词
D O I
暂无
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:S29 / S29
页数:1
相关论文
共 50 条
  • [41] Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism
    Giau, Vo Van
    Wang, Min Jeong
    Bagyinszky, Eva
    Youn, Young Chul
    An, Seong Soo A.
    Kim, SangYun
    NEUROBIOLOGY OF AGING, 2018, 72 : 188.e13 - 188.e17
  • [42] A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression
    Llado, A.
    Fortea, J.
    Ojea, T.
    Bosch, B.
    Sanz, P.
    Valls-Sole, J.
    Clarimon, J.
    Molinuevo, J. L.
    Sanchez-Valle, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2010, 17 (07) : 994 - 996
  • [43] Neuropathology of the Jalisco A431E PSEN1 Mutation in Comparison to Other PSEN1 Mutations in Autosomal Dominant Alzheimer's Disease
    Estrella, M.
    Hird, K.
    Goodwill, V.
    Pizzo, D.
    Galasko, D.
    Gopal, P.
    Guzman, S.
    Hawes, D.
    Ringman, J.
    Church, C.
    Hiniker, A.
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2023, 82 (06): : 575 - 575
  • [44] Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease
    Qiu, Qiongqiong
    Jia, Longfei
    Wang, Qi
    Zhao, Lina
    Jin, Hongmei
    Li, Tingting
    Quan, Meina
    Xu, Lingzhi
    Li, Bingqiu
    Li, Yan
    Jia, Jianping
    NEUROBIOLOGY OF AGING, 2020, 85 : 155.e1 - 155.e4
  • [45] The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family
    Li, Haitao
    Li, Yu
    Liang, Wenping
    Wei, Zheng Z.
    Li, Xuanyu
    Tian, Yuanruhua
    Qiao, Shanshan
    Yang, Yishu
    Yang, Liu
    Wu, Dongyue
    Yin, Wei
    Liu, Honglin
    Zhang, Wei
    Zhang, Yongbo
    Wang, Zhe
    MOLECULAR AND CELLULAR NEUROSCIENCE, 2022, 120
  • [46] Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease
    Cornejo-Olivas, Mario R.
    Yu, Chang-En
    Mazzetti, Pilar
    Mata, Ignacio F.
    Meza, Maria
    Lindo-Samanamud, Saul
    Leverenz, James B.
    Bird, Thomas D.
    NEUROSCIENCE LETTERS, 2014, 563 : 140 - 143
  • [47] Clinical and Molecular Studies Reveal a PSEN1 Mutation (L153V) in a Peruvian Family with Early-Onset Alzheimer's Disease
    Cornejo Olivas, Mario
    Leverenz, James
    Lindo-Samanamud, Saul
    Mata, Ignacio
    Mazzetti Soler, Pilar
    Meza-Vega, Maria
    Yu, Chang-En
    Bird, Thomas
    NEUROLOGY, 2012, 78
  • [48] Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease
    Senanarong, Vorapun
    An, Seong Soo A.
    Vo Van Giau
    Limwongse, Chanin
    Bagyinszky, Eva
    Kim, SangYun
    DIAGNOSTICS, 2020, 10 (03)
  • [49] An Examination of the Structural Association of PSEN1 with Alzheimer's Disease
    Savoy, Kaitlyn
    Cummins, Alex
    Henrichs, Grant
    FASEB JOURNAL, 2021, 35
  • [50] Effect of PSEN1 Mutations on MAPT Methylation in Early-Onset Alzheimer's Disease
    Coupland, Kirsten G.
    Kim, Woojin S.
    Halliday, Glenda M.
    Hallupp, Marianne
    Dobson-Stone, Carol
    Kwok, John B. J.
    CURRENT ALZHEIMER RESEARCH, 2015, 12 (08) : 745 - 751