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
  • [11] Bringing CCM into a dish: cell culture models for cerebral cavernous malformations
    Skowronek, Dariush
    Pilz, Robin A.
    Schwefel, Konrad
    Much, Christiane D.
    Felbor, Ute
    Rath, Matthias
    MEDIZINISCHE GENETIK, 2021, 33 (03) : 251 - 259
  • [12] Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis
    Belousova, Olga B.
    Okishev, Dmitry N.
    Ignatova, Tatyana M.
    Balashova, Maria S.
    Boulygina, Eugenia S.
    WORLD NEUROSURGERY, 2017, 105 : 1034.e1 - 1034.e6
  • [13] Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations
    Riant, F.
    Odent, S.
    Cecillon, M.
    Pasquier, L.
    de Barace, C.
    Carney, M. P.
    Tournier-Lasserve, E.
    CLINICAL GENETICS, 2014, 86 (06) : 585 - 588
  • [14] Novel KRIT1 Mutation and No Molecular Evidence of Anticipation in a Family with Cerebral and Spinal Cavernous Malformations
    Kuhn, Jens
    Bruemmendorf, Tim H.
    Brassat, Ute
    Lehnhardt, Fritz G.
    Chung, Boi-Dinh
    Harnier, Simon
    Bewermeyer, Heiko
    Harzheim, Andreas
    Assheuer, Josef
    Netzer, Christian
    EUROPEAN NEUROLOGY, 2009, 61 (03) : 154 - 158
  • [15] Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations
    Rinaldi, Carmela
    Bramanti, Placido
    Scimone, Concetta
    Donato, Luigi
    Alafaci, Concetta
    D'Angelo, Rosalia
    Sidoti, Antonina
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 380 : 31 - 37
  • [16] Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1
    Rerat, K.
    Parker, F.
    Nasser, G.
    Vidaud, D.
    Riant, F.
    Tournier-Lasserve, E.
    Denier, C.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 350 (1-2) : 98 - 100
  • [17] Epilepsy surgery in patients with multiple cerebral cavernous malformations
    Rocamora, R.
    Mader, I.
    Zentner, J.
    Schulze-Bonhage, A.
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2009, 18 (04): : 241 - 245
  • [18] Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations
    Gianfrancesco, Fernando
    Cannella, Milena
    Martino, Tiziana
    Maglione, Vittorio
    Esposito, Teresa
    Innocenzi, Gualtiero
    Vitale, Emilia
    Liquori, 'Hristina L.
    Marchuk, Douglas A.
    Squitieri, Ferdinando
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2007, 144B (05) : 691 - 695
  • [19] A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature
    Yu, Weiwei
    Jin, Haigiang
    You, Qian
    Nan, Ding
    Huang, Yining
    JOURNAL OF PAIN RESEARCH, 2019, 12 : 1127 - 1132
  • [20] Stereotactic laser interstitial thermal therapy for epilepsy associated with solitary and multiple cerebral cavernous malformations
    Satzer, David
    Tao, James X.
    Issa, Naoum P.
    Chen, Ziyi
    Wu, Shasha
    Rose, Sandra
    Collins, John
    Awad, Issam A.
    Warnke, Peter C.
    NEUROSURGICAL FOCUS, 2020, 48 (04)
12345