Associated Papers
Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4.
Glanz H et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2023
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.
Weng J et al.
American Journal of Human Genetics, 2021
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
Canavati C et al.
Epilepsia, 2019
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.
Rath M et al.
European Journal of Medical Genetics, 2017
Genetic Screening of Pediatric Cavernous Malformations.
Merello E et al.
Journal of Molecular Neuroscience : Mn, 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
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
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