Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

Amy Akers, Eric W. Johnson, Gary K. Steinberg, +2

Human Molecular Genetics

Developmental AnomalyNeuro-oncologySporadic CcmGenetic DisorderCcm Lesions +12

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

Robert Shenkar, Changbin Shi, Tania Rebeiz, +14

Genetics in Medicine

Creutzfeldt-jakob DiseaseVascular MalformationPathologyNeurologyNeuroscience +5

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis

David A. McDonald, Changbin Shi, Robert Shenkar, +8

Human Molecular Genetics

Developmental AnomalyNeuro-oncologyCcm PatientsSomatic MutationsSomatic Variant +12

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

David A. McDonald, Robert Shenkar, Changbin Shi, +8

Human Molecular Genetics

Ccm1 Mouse ModelVascular MalformationPathologyCerebral Cavernous MalformationsExperimental Neuropathology +14

Randomized phase 2 trial of NP001, a novel immune regulator

Robert G. Miller, Gilbert Block, Jonathan Katz, +141

Neurology Neuroimmunology & Neuroinflammation

Atorvastatin Treatment of Cavernous Angiomas with Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial

Sean P. Polster, Agnieszka Stadnik, Amy Akers, +22

Neurosurgery

Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation

Alan T. Tang, Katie Rose Sullivan, Courtney C. Hong, +36

Science Translational Medicine

Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity

Hélène Choquet, Ludmila Pawlikowska, Jeffrey Nelson, +7

Cerebrovascular Diseases

Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes

Janne Koskimäki, Romuald Girard, Yan Li, +26

JCI Insight

NeurogenomicsGeneticsTranscriptomics TechnologyGene CharacterizationGenomics +18

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

Hélène Choquet, Eliana Trapani, Luca Goitre, +8

Free Radical Biology and Medicine