Literature DB >> 15557534

No CCM2 mutations in a cohort of 31 sporadic cases.

D J Verlaan1, S B Laurent, G A Rouleau, A M Siegel.   

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Year:  2004        PMID： 15557534     DOI： 10.1212/01.wnl.0000144195.55540.9d

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  8 in total

Review 1.  From germline towards somatic mutations in the pathophysiology of vascular anomalies.

Authors:  Nisha Limaye; Laurence M Boon; Miikka Vikkula
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

2.  Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

Authors:  U Felbor; S Gaetzner; D J Verlaan; R Vijzelaar; G A Rouleau; A M Siegel
Journal:  Neurogenetics       Date:  2007-01-09       Impact factor: 2.660

3.  Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

Authors:  Jing Lin; Jie Liang; Jun Wen; Man Luo; Jiaoxing Li; Xunsha Sun; Xiaowei Xu; Jianli Li; Dongxian Wang; Jie Wang; Huimin Chen; Rong Lai; Fengyin Liang; Chuan Li; Fei Ye; Jingjing Zhang; Jinsheng Zeng; Shulan Yang; Wenli Sheng
Journal:  J Cereb Blood Flow Metab       Date:  2020-04-04       Impact factor: 6.200

Review 4.  Genetics of cerebral cavernous malformations.

Authors:  Nicholas W Plummer; Jon S Zawistowski; Douglas A Marchuk
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

Review 5.  Cerebral cavernous malformation: new molecular and clinical insights.

Authors:  N Revencu; M Vikkula
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

6.  Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

Authors:  Rosalia D'Angelo; Concetta Alafaci; Concetta Scimone; Alessia Ruggeri; Francesco Maria Salpietro; Placido Bramanti; Francesco Tomasello; Antonina Sidoti
Journal:  Biomed Res Int       Date:  2013-08-22       Impact factor: 3.411

7.  NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation-mediated CCM1/2 expression.

Authors:  Zhi Fang; Xiaoran Sun; Xiang Wang; Ji Ma; Thomas Palaia; Ujala Rana; Benjamin Miao; Louis Ragolia; Wenquan Hu; Qing Robert Miao
Journal:  J Clin Invest       Date:  2022-05-02       Impact factor: 19.456

8.  Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

Authors:  Rosalia D'Angelo; Valeria Marini; Carmela Rinaldi; Paola Origone; Alessandra Dorcaratto; Maria Avolio; Luca Goitre; Marco Forni; Valeria Capra; Concetta Alafaci; Cristina Mareni; Cecilia Garrè; Placido Bramanti; Antonina Sidoti; Saverio Francesco Retta; Aldo Amato
Journal:  Brain Pathol       Date:  2010-10-04       Impact factor: 6.508
  8 in total

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