Associated Papers
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
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
Ishii K et al.
Medicine, 2020
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
Bergametti F et al.
Journal of Medical Genetics, 2020
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
Fisher OS et al.
The Journal of Biological Chemistry, 2015
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Riant F et al.
Neurogenetics, 2013
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