Associated Papers
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.
Chaussenot A et al.
European Journal of Human Genetics : Ejhg, 2024
In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain.
Padarti A et al.
Biochemistry and Biophysics Reports, 2022
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Chang CW et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.
Scimone C et al.
Frontiers in Neurology, 2018
Novel functions of CCM1 delimit the relationship of PTB/PH domains.
Zhang J et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.
Rinaldi C et al.
Journal of the Neurological Sciences, 2017
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Scimone C et al.
Journal of Molecular Neuroscience : Mn, 2017
Genetic Screening of Pediatric Cavernous Malformations.
Merello E et al.
Journal of Molecular Neuroscience : Mn, 2016
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.
Huang WQ et al.
Frontiers in Aging Neuroscience, 2016
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.
Scimone C et al.
Journal of Molecular Neuroscience : Mn, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
Genomic causes of multiple cerebral cavernous malformations in a Japanese population.
Tsutsumi S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2013
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
D'Angelo R et al.
Biomed Research International, 2013
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.
D'Angelo R et al.
International Journal of Molecular Medicine, 2012
Analysis of candidate genes for macular telangiectasia type 2.
Parmalee NL et al.
Molecular Vision, 2010
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S et al.
Journal of Molecular Neuroscience : Mn, 2010
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Stahl S et al.
Human Mutation, 2008
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C et al.
American Journal of Human Genetics, 2004