Associated Papers
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Li C et al.
Neurogenetics, 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
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S et al.
Molecular Genetics & Genomic Medicine, 2014
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Denier C et al.
Annals of Neurology, 2004
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