Associated Papers
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Fontes-Dantas FL et al.
Journal of Neurochemistry, 2026
High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.
Skowronek D et al.
Angiogenesis, 2025
Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.
Wang J et al.
Clinical and Translational Medicine, 2024
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.
Kim S et al.
Annals of Clinical and Translational Neurology, 2023
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
Cerebral cavernous malformations with diffuse manifestation: A benign entity?
Tsutsumi S et al.
Journal of the Neurological Sciences, 2016
CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.
Bilo L et al.
The Journal of Dermatology, 2016
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
Yang IY et al.
Korean Journal of Pediatrics, 2016
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.
Shenkar R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS et al.
Plos One, 2014
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
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F et al.
Molecular Syndromology, 2013
A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.
Lee YW et al.
Annals of Clinical and Laboratory Science, 2010
Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.
Lee ST et al.
Journal of the Neurological Sciences, 2008
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
Bergametti F et al.
American Journal of Human Genetics, 2005
[Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation].
Mao Y et al.
Zhonghua Yi Xue Za Zhi, 2003