Associated Papers
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Fontes-Dantas FL et al.
Journal of Neurochemistry, 2026
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Tobacco use increases lesion burden in familial cerebral cavernous malformation syndrome.
Flemming KD et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2024
Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.
Dulamea AO et al.
Journal of the Neurological Sciences, 2024
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.
Choksi F et al.
Molecular Genetics & Genomic Medicine, 2021
Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations.
Fox CK et al.
Neurology, 2021
Cerebral Cavernous Malformation: From Mechanism to Therapy.
Snellings DA et al.
Circulation Research, 2021
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
Manole AK et al.
American Journal of Medical Genetics. Part A, 2020
Postzygotic mosaicism in cerebral cavernous malformation.
Rath M et al.
Journal of Medical Genetics, 2020
From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease.
Retta SF et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Molecular Genetic Screening of CCM Patients: An Overview.
Tournier-Lasserve E
Methods in Molecular Biology (clifton, N.j.), 2020
Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity.
Choquet H et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco C et al.
Human Mutation, 2019
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
Much CD et al.
Frontiers in Neurology, 2019
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G et al.
Human Mutation, 2018
Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient.
Chen DY et al.
Bmj Case Reports, 2018
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
Spiegler S et al.
Molecular Syndromology, 2018
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations.
Tang AT et al.
Nature, 2017
Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: Two sides of the same coin.
Retta SF et al.
The International Journal of Biochemistry & Cell Biology, 2016
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.
Choquet H et al.
Free Radical Biology & Medicine, 2016
Genetics of cerebral cavernous malformations: current status and future prospects.
Choquet H et al.
Journal of Neurosurgical Sciences, 2015
Increased number of white matter lesions in patients with familial cerebral cavernous malformations.
Golden MJ et al.
Ajnr. American Journal of Neuroradiology, 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
Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation.
Choquet H et al.
Cerebrovascular Diseases (basel, Switzerland), 2014
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.
Choquet H et al.
Cerebrovascular Diseases (basel, Switzerland), 2014
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
Haasdijk RA et al.
European Journal of Human Genetics : Ejhg, 2012
Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report.
Lan MY et al.
Clinical Neurology and Neurosurgery, 2010
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.
Riant F et al.
The Febs Journal, 2010
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.
Petersen TA et al.
Ajnr. American Journal of Neuroradiology, 2010
Cerebral cavernous malformations: somatic mutations in vascular endothelial cells.
Gault J et al.
Neurosurgery, 2009
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
Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).
Ortiz L et al.
Journal of Neurology, 2007
Deletions in CCM2 are a common cause of cerebral cavernous malformations.
Liquori CL et al.
American Journal of Human Genetics, 2007
Spectrum of genotype and clinical manifestations in cerebral cavernous malformations.
Gault J et al.
Neurosurgery, 2006
Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.
Gault J et al.
Stroke, 2005
Mutational analysis of 206 families with cavernous malformations.
Laurans MS et al.
Journal of Neurosurgery, 2003
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
Cavé-Riant F et al.
European Journal of Human Genetics : Ejhg, 2002