Associated Papers
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
Ishii K et al.
Medicine, 2020
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 P et al.
Journal of Neurosurgery, 2017
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S et al.
Molecular Genetics & Genomic Medicine, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.
Tonelli A et al.
Clinical Genetics, 2009
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Liquori CL et al.
American Journal of Human Genetics, 2003
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