A novel mutation in KRIT1 gene associated with familial cerebral cavernous malformations

被引:0
|
作者
Lanfranconi, S. [1 ]
Ronchi, D. [1 ]
Ahmed, N. [1 ]
Basilico, P. [1 ]
Bresolin, N. [1 ]
Comi, G. P. [1 ]
Corti, S. P. [1 ]
机构
[1] Univ Milan, Dino Ferrari Ctr, Fdn Ca Granda, IRCCS Osped Maggiore Policlin, Milan, Italy
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
EP2115
引用
收藏
页码:S129 / S129
页数:1
相关论文
共 50 条
  • [31] A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
    Chunwang Li
    Penghui Liu
    Weilin Huang
    Haojie Wang
    Ke Ma
    Lingyun Zhuo
    Yaqing Kang
    Qiu He
    Yuanxiang Lin
    Dezhi Kang
    Fuxin Lin
    neurogenetics, 2023, 24 : 137 - 146
  • [32] KRIT1 and reactive oxygen species: a novel molecular pathway involved in cerebral cavernous malformations
    Goitre, L.
    Villoria-Recio, M.
    Cutano, V.
    Canzoneri, R.
    Trapani, E.
    Morina, A.
    Retta, F.
    FREE RADICAL BIOLOGY AND MEDICINE, 2012, 53 : S58 - S58
  • [33] Germline mutations in the CCM1 gene, encoding Krit1, in patients with cerebral cavernous malformations.
    Marini, V
    Ferrera, L
    Pigatto, F
    Alberti, F
    Sanzaro, E
    Viale, G
    Origone, P
    Mareni, C
    Garrè, C
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 104 - 105
  • [34] CEREBRAL CAVERNOUS MALFORMATION TYPE 1 WITH RETINAL BLOOD VESSEL TORTUOSITY AND KRIT1 GENE MUTATION
    Kalmar, Tibor
    Maroti, Zoltan
    Vadvari, Arpad
    Halmosi, Agnes
    Kalovits, Ferenc
    Kalman, Bernadette
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE, 2019, 72 (7-8): : 273 - 277
  • [35] A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas
    Laberge-Le Couteulx, S
    Brézin, AP
    Fontaine, B
    Tournier-Lasserve, E
    Labauge, P
    ARCHIVES OF OPHTHALMOLOGY, 2002, 120 (02) : 217 - 218
  • [36] Cerebral cavernous malformation: Clinical report of two families with variable phenotype associated with KRIT1 mutation
    Balasubramanian, Meena
    Jain, Vani
    Glover, Rhona C.
    Robertson, Lisa K.
    Mordekar, Santosh R.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2013, 17 (06) : 661 - 665
  • [37] KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
    Gunel, M
    Laurans, MSH
    Shin, D
    DiLuna, ML
    Voorhees, J
    Choate, K
    Nelson-Williams, C
    Lifton, RP
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (16) : 10677 - 10682
  • [38] Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene
    Miguel Lucas
    Alzenire F Costa
    José M García-Moreno
    Francisca Solano
    Miguel A Gamero
    Guillermo Izquierdo
    BMC Neurology, 3 (1)
  • [39] Interaction between krit1 and malcavernin: Implications for the pathogenesis of cerebral cavernous malformations - Comments
    Takagi, Yasushi
    Hashimoto, Nobuo
    Kelly, Michael E.
    Steinberg, Gary K.
    Awad, Issam A.
    NEUROSURGERY, 2007, 60 (02) : 359 - 359
  • [40] Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test
    Marini, V
    Ferrera, L
    Dorcaratto, A
    Viale, G
    Origone, P
    Mareni, C
    Garré, C
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 212 (1-2) : 75 - 78