High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

Natural history of cerebral dot-like cavernomas

(2013) O. Nikoubashman et al.   CLINICAL RADIOLOGY

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions

(2013) Florence Riant et al.   NEUROGENETICS

Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations

(2013) Winnie Schröder et al.   NEUROSURGICAL REVIEW

Structural basis of the junctional anchorage of the cerebral cavernous malformations complex

(2012) Alexandre R. Gingras et al.   JOURNAL OF CELL BIOLOGY

From germline towards somatic mutations in the pathophysiology of vascular anomalies

(2009) N. Limaye et al.   HUMAN MOLECULAR GENETICS

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

(2009) Katrin Voss et al.   HUMAN MUTATION

Regulation of cardiovascular development and integrity by the heart of glass–cerebral cavernous malformation protein pathway

(2009) Benjamin Kleaveland et al.   NATURE MEDICINE

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

(2008) Sonja Stahl et al.   HUMAN MUTATION