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
  • [41] Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations
    Florence Cavé-Riant
    Christian Denier
    Pierre Labauge
    Michaelle Cécillon
    Jacqueline Maciazek
    Anne Joutel
    Sophie Laberge-le Couteulx
    Elisabeth Tournier-Lasserve
    European Journal of Human Genetics, 2002, 10 : 733 - 740
  • [42] Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations
    Cavé-Riant, F
    Denier, C
    Labauge, P
    Cécillon, M
    Maciazek, J
    Joutel, A
    Couteulx, SLL
    Tournier-Lasserve, E
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (11) : 733 - 740
  • [43] 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
  • [44] Single-cell and bulk RNA-seq unveils the immune infiltration landscape associated with cuproptosis in cerebral cavernous malformations
    Chen, Chengwei
    Bao, Yuting
    Ju, Sihan
    Jiang, Conglin
    Zou, Xiang
    Zhang, Xin
    Chen, Liang
    BIOMARKER RESEARCH, 2024, 12 (01)
  • [45] Lectin-type oxidized LDL receptor-1 as a potential therapeutic target for cerebral cavernous malformations treatment
    Ashok, Karthik
    Martinez, Tyra
    Sesen, Julie
    Nasim, Sana
    Lang, Shih-Shan
    Heuer, Gregory
    Tucker, Alexander
    Lopez-Ramirez, Miguel Alejandro
    Smith, Edward R.
    Ghalali, Aram
    FRONTIERS IN NEUROSCIENCE, 2024, 18
  • [46] Surgical management and long-term outcome of pediatric patients with different subtypes of epilepsy associated with cerebral cavernous malformations Clinical article
    von der Brelie, Christian
    Kuczaty, Stefan
    von Lehe, Marec
    JOURNAL OF NEUROSURGERY-PEDIATRICS, 2014, 13 (06) : 699 - 705
  • [47] Intra-operative electrocorticography results and postoperative pathological findings are associated with epileptic outcomes in patients with cerebral cavernous malformations presenting with epilepsy
    Lin, Fuxin
    Gao, Ziwei
    Li, Chunwang
    Wang, Dengliang
    He, Qiu
    Kang, Dezhi
    Lin, Yuanxiang
    EPILEPSY RESEARCH, 2021, 174
  • [48] Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI
    Dammann, Philipp
    Wrede, Karsten
    Zhu, Yuan
    Matsushige, Toshinori
    Maderwald, Stefan
    Umutlu, Lale
    Quick, Harald H.
    Hehr, Ute
    Rath, Matthias
    Ladd, Mark E.
    Felbor, Ute
    Sure, Ulrich
    JOURNAL OF NEUROSURGERY, 2017, 126 (02) : 570 - 577
  • [49] Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1
    Retta, SF
    Avolio, M
    Francalanci, F
    Procida, S
    Balzac, F
    Degani, S
    Tarone, G
    Silengo, L
    GENE, 2004, 325 : 63 - 78
  • [50] Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
    Bacci, Costanza
    Sestini, Roberta
    Provenzano, Aldesia
    Paganini, Irene
    Mancini, Irene
    Porfirio, Berardino
    Vivarelli, Rossella
    Genuardi, Maurizio
    Papi, Laura
    NEUROGENETICS, 2010, 11 (01) : 73 - 80
12345