An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene

被引:53
作者
Doragna, D
Tupler, R
Ratti, MT
Montalbetti, L
Papi, L
Sestim, R
机构
[1] Univ Pavia, Dept Neurol Sci, Neurol Inst C Mondino IRCCS, I-27100 Pavia, Italy
[2] Univ Pavia, Dept Gen Biol & Med Chem, I-27100 Pavia, Italy
[3] Univ Florence, Dept Clin Pathophysiol, Med Genet Unit, Florence, Italy
关键词
D O I
10.1136/jnnp.74.6.825-a
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:825 / 826
页数:2
相关论文
共 50 条
  • [41] Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease
    Landoulsi, Zied
    Ben Djebara, Mouna
    Kacem, Imen
    Sidhom, Youssef
    Kefi, Rym
    Abdelhak, Sonia
    Gargouri-Berrechid, Amina
    Gouider, Riadh
    [J]. MEDICAL PRINCIPLES AND PRACTICE, 2018, 27 (04) : 317 - 322
  • [42] Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status
    Laura Piccio
    Yuetiva Deming
    Jorge L. Del-Águila
    Laura Ghezzi
    David M. Holtzman
    Anne M. Fagan
    Chiara Fenoglio
    Daniela Galimberti
    Barbara Borroni
    Carlos Cruchaga
    [J]. Acta Neuropathologica, 2016, 131 : 925 - 933
  • [43] Secretases in Alzheimer's disease: Novel insights into proteolysis of APP and TREM2
    Lichtenthaler, Stefan F.
    Tschirner, Sarah K.
    Steiner, Harald
    [J]. CURRENT OPINION IN NEUROBIOLOGY, 2022, 72 : 101 - 110
  • [44] Convergent Genetic and Expression Datasets Highlight TREM2 in Parkinson's Disease Susceptibility
    Liu, Guiyou
    Liu, Yongquan
    Jiang, Qinghua
    Jiang, Yongshuai
    Feng, Rennan
    Zhang, Liangcai
    Chen, Zugen
    Li, Keshen
    Liu, Jiafeng
    [J]. MOLECULAR NEUROBIOLOGY, 2016, 53 (07) : 4931 - 4938
  • [45] Convergent Genetic and Expression Datasets Highlight TREM2 in Parkinson’s Disease Susceptibility
    Guiyou Liu
    Yongquan Liu
    Qinghua Jiang
    Yongshuai Jiang
    Rennan Feng
    Liangcai Zhang
    Zugen Chen
    Keshen Li
    Jiafeng Liu
    [J]. Molecular Neurobiology, 2016, 53 : 4931 - 4938
  • [46] TREM2 genetic variability in patients with Alzheimer's disease and frontotemporal lobar degeneration
    Galimberti, D.
    Fenoglio, C.
    Serpente, M.
    Cioffi, S.
    Barone, C.
    Arighi, A.
    Ghezzi, L.
    Clerici, F.
    Grande, G.
    Maggiore, L.
    Mariani, C.
    Scarpini, E.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 321 - 321
  • [47] TREM2 genetic variability in patients with Alzheimer's disease and frontotemporal lobar degeneration
    Galimberti, D.
    Fenoglio, C.
    Serpente, M.
    Cioffi, S.
    Barone, C.
    Arighi, A.
    Ghezzi, L.
    Clerici, F.
    Grande, G.
    Maggiore, L.
    Mariani, C.
    Scarpini, E.
    [J]. JOURNAL OF NEUROLOGY, 2014, 261 : S217 - S218
  • [48] A novel mutation in the VMD2 gene in an Italian family with Best maculopathy
    Sodi, A.
    Passerini, I.
    Simonelli, F.
    Testa, F.
    Menchini, U.
    Torricelli, F.
    [J]. JOURNAL FRANCAIS D OPHTALMOLOGIE, 2007, 30 (06): : 616 - 620
  • [49] Novel missense mutation in the EDA gene in a family affected by oligodontia
    Ruiz-Heiland, Gisela
    Jabir, Sarah
    Wende, Wolfgang
    Blecher, Sonja
    Bock, Niko
    Ruf, Sabine
    [J]. JOURNAL OF OROFACIAL ORTHOPEDICS-FORTSCHRITTE DER KIEFERORTHOPADIE, 2016, 77 (01): : 31 - 38
  • [50] Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
    Lobrinus, JA
    Schorderet, DF
    Payot, M
    Jeanrenaud, X
    Bottani, A
    Superti-Furga, A
    Schlaepfer, J
    Fromer, M
    Jeannet, PY
    [J]. NEUROMUSCULAR DISORDERS, 2005, 15 (04) : 293 - 298