Associated Papers
Cerebral Cavernous Malformation: From Mechanism to Therapy.
Snellings DA et al.
Circulation Research, 2021
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
Spiegler S et al.
Neurogenetics, 2018
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
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.
Gallione CJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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