Associated Papers
Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.
Li C et al.
Stroke and Vascular Neurology, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Towards a neurocognitive profile in familial cerebral cavernous malformations.
Silva C et al.
Acta Neurologica Belgica, 2024
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene.
Noushad M et al.
Acta Neurologica Belgica, 2020
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
Ishii K et al.
Medicine, 2020
Postzygotic mosaicism in cerebral cavernous malformation.
Rath M et al.
Journal of Medical Genetics, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
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
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.
Du Q et al.
Journal of Molecular Neuroscience : Mn, 2019
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
Much CD et al.
Frontiers in Neurology, 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
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
Spiegler S et al.
Molecular Syndromology, 2018
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
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R 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
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
Akers AL et al.
Human Molecular Genetics, 2009
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
Pagenstecher A et al.
Human Molecular Genetics, 2009
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
[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].
Siegel AM et al.
Der Nervenarzt, 2005