Associated Papers
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Fontes-Dantas FL et al.
Journal of Neurochemistry, 2026
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.
Kim S et al.
Annals of Clinical and Translational Neurology, 2023
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco C et al.
Human Mutation, 2019
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G et al.
Human Mutation, 2018
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.
Jih KY et al.
Clinical Genetics, 2018
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS et al.
Plos One, 2014
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F et al.
Molecular Syndromology, 2013
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3.
Chen L et al.
Stroke, 2009
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.
Guclu B et al.
Neurosurgery, 2005
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