Associated Papers
A tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation.
Kumar M et al.
Pediatric Blood & Cancer, 2023
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Chen Y et al.
Frontiers in Neuroscience, 2023
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
Ricci C et al.
Journal of Molecular Neuroscience : Mn, 2021
Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations.
Zhang F et al.
Frontiers in Neuroscience, 2020
33071727 (PubMed )
Supplement: Presentation_1.pdf
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Chang CW et al.
Scientific Reports, 2019
A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
Yang C et al.
Journal of Molecular Neuroscience : Mn, 2017
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Yang C et al.
Journal of Molecular Neuroscience : Mn, 2017
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
Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.
Rajakulendran S et al.
Bmj Case Reports, 2011
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
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