Diagnostic value of Notch3 immunostaining and limited sequencing of Notch3 gene in CADASIL

被引：0
|
作者：
Munoz, DG
España, A
Rodal, I
de Yebenes, JG
机构：
来源：
NEUROLOGY | 2005年 / 64卷 / 06期
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：A370 / A370
页数：1
相关论文
共 50 条
  • [21] A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?
    Schubert, V.
    Bender, B.
    Kinzel, M.
    Peters, N.
    Freilinger, T.
    JOURNAL OF NEUROLOGY, 2018, 265 (06) : 1338 - 1342
  • [22] Characterization of Notch3 mutations in CADASIL patients
    Joutel, A
    Corpechot, C
    Vayssiere, C
    Vahedi, K
    Chabriat, H
    Marechal, E
    Maciazek, J
    Cruaud, C
    Ruchoux, MM
    Weissenbach, J
    Bousser, MG
    TournierLasserve, E
    NEUROLOGY, 1997, 48 (06) : 6 - 6
  • [23] Interpretation of NOTCH3 mutations in the diagnosis of CADASIL
    Rutten, Julie W.
    Haan, Joost
    Terwindt, Gisela M.
    van Duinen, Sjoerd G.
    Boon, Elles M. J.
    Oberstein, Saskia A. J. Lesnik
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2014, 14 (05) : 593 - 603
  • [24] NOTCH3 negative CADASIL: A case report
    Hassan, Muhammad
    Qureshi, Muhammad
    Lobatoribeiro, Nuno
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429 : 38 - 38
  • [25] NOTCH3 mutations in Serbian CADASIL patients
    Jankovic, M. Z.
    Dobricic, V.
    Marjanovic, A.
    Brankovic, M.
    Pavlovic, A.
    Dujmovic, I.
    Mijajlovic, M.
    Novakovic, I.
    Kostic, V.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 293 - 293
  • [26] Novel mutation of the Notch3 gene in a Japanese patient with CADASIL
    Oki, K.
    Nagata, E.
    Ishiko, A.
    Shimizu, A.
    Tanaka, K.
    Takahashi, K.
    Tabira, T.
    Katayama, T.
    Suzuki, N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 (04) : 464 - 466
  • [27] First Mexican Family with CADASIL: A Novel Mutation in the NOTCH3 Gene
    Barinagarrementeria, Fernando
    Arauz, Antonio
    Mine, Manuelle
    NEUROLOGY, 2013, 80
  • [28] First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
    Mazzei, R.
    Guidetti, D.
    Ungaro, C.
    Conforti, F. L.
    Muglia, M.
    Cenacchi, G.
    Lanza, P. L.
    Patitucci, A.
    Sprovieri, T.
    Riguzzi, P.
    Magariello, A.
    Gabriele, A. L.
    Citrigno, L.
    Preda, P.
    Quattrone, A.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (01): : 108 - 110
  • [29] A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
    Li, Juyi
    Luo, Tao
    Wang, Xiufang
    Wang, Mengjie
    Zheng, Tao
    Dang, Xiao
    Deng, Aiping
    Zhang, Youzhi
    Ding, Sheng
    Jing, Ping
    Zhu, Lin
    FRONTIERS IN GENETICS, 2022, 13
  • [30] Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family
    de la Peña, P
    Bornstein, B
    del Hoyo, P
    Fernández-Moreno, MA
    Martín, MA
    Campos, Y
    Gómez-Escalonilla, C
    Molina, JA
    Cabello, A
    Arenas, J
    Garesse, R
    NEUROLOGY, 2001, 57 (07) : 1235 - 1238
12345