A novel CCM1mutation associated with multiple cerebral and vertebral cavernous malformations

被引：0
|
作者：
Silvia Lanfranconi
Dario Ronchi
Naghia Ahmed
Vittorio Civelli
Paola Basilico
Nereo Bresolin
Giacomo Pietro Comi
Stefania Corti
机构：
[1] IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico,Neurology Unit
[2] IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico,Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT)
[3] University of Milan,Neuroradiology and Interventional Neuroradiology Unit
[4] IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico,undefined
来源：
BMC Neurology | / 14卷
关键词：
Cerebral Cavernous Malformations; CCM1 protein; Krev interaction trapped 1 protein; Hemangioma; Cavernous; Central Nervous System;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations
    Lanfranconi, Silvia
    Ronchi, Dario
    Ahmed, Naghia
    Civelli, Vittorio
    Basilico, Paola
    Bresolin, Nereo
    Comi, Giacomo Pietro
    Corti, Stefania
    BMC NEUROLOGY, 2014, 14
  • [2] Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations
    Mao, Cheng-yuan
    Yang, Jing
    Zhang, Shu-yu
    Luo, Hai-yang
    Song, Bo
    Liu, Yu-tao
    Wu, Jun
    Sun, Shi-lei
    Yang, Zhi-hua
    Du, Pan
    Wang, Yao-he
    Shi, Chang-he
    Xu, Yu-ming
    INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2016, 126 (12) : 1071 - 1076
  • [3] Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?
    D'Angelo, Rosalia
    Scimone, Concetta
    Calabro, Marco
    Schettino, Carla
    Fratta, Mario
    Sidoti, Antonina
    GENE, 2013, 519 (01) : 202 - 207
  • [4] Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis
    Fischer, Andreas
    Zalvide, Juan
    Faurobert, Eva
    Albiges-Rizo, Corinne
    Tournier-Lasserve, Elisabeth
    TRENDS IN MOLECULAR MEDICINE, 2013, 19 (05) : 302 - 308
  • [5] Novel Chronic Mouse Model of Cerebral Cavernous Malformations
    Cardoso, Cecile
    Arnould, Minh
    De Luca, Coralie
    Otten, Cecile
    Abdelilah-Seyfried, Salim
    Heredia, Alonso
    Leutenegger, Anne-Louise
    Schwaninger, Markus
    Tournier-Lasserve, Elisabeth
    Boulday, Gwenola
    STROKE, 2020, 51 (04) : 1272 - 1278
  • [6] Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
    Riant, Florence
    Bergametti, Francoise
    Ayrignac, Xavier
    Boulday, Gwenola
    Tournier-Lasserve, Elisabeth
    FEBS JOURNAL, 2010, 277 (05) : 1070 - 1075
  • [7] Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations
    Haghighi, Alireza
    Fathi, Davood
    Shahbazi, Majid
    Motahari, Mohammad-Mandy
    Friedman, Bethany
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 334 (1-2) : 97 - 101
  • [8] Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomalies
    Ardeshiri, Ardavan
    Ardeshiri, Ardeshir
    Beiras-Fernandez, Andres
    Steinlein, Ortrud K.
    Winkler, Peter A.
    NEUROSURGICAL REVIEW, 2008, 31 (01) : 11 - 17
  • [9] Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomalies
    Ardavan Ardeshiri
    Ardeshir Ardeshiri
    Andres Beiras-Fernandez
    Ortrud K. Steinlein
    Peter A. Winkler
    Neurosurgical Review, 2008, 31 : 11 - 18
  • [10] Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
    Much, Christiane D.
    Schwefel, Konrad
    Skowronek, Dariush
    Shoubash, Loay
    von Podewils, Felix
    Elbracht, Miriam
    Spiegler, Stefanie
    Kurth, Ingo
    Floeel, Agnes
    Schroeder, Henry W. S.
    Felbor, Ute
    Rath, Matthias
    FRONTIERS IN NEUROLOGY, 2019, 10
12345