Associated Papers
Postzygotic mosaicism in cerebral cavernous malformation.
Rath M et al.
Journal of Medical Genetics, 2020
PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk.
Stamatovic SM et al.
Acta Neuropathologica, 2015
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
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
McDonald DA et al.
Human Molecular Genetics, 2014
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
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