Disease: Familial cerebral cavernous malformation
- "Radiologically Isolated" Spinal Cavernoma Associated with Familial Cerebral Cavernomatosis
- 3-Dimensional Exoscope for Far Lateral Approach to Pontomedullary Cavernous Malformation
- A 5-year outcome of propranolol for the treatment of paediatric intracranial cavernoma: case report and a review of the literature
- A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene
- A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the <em>CCM1</em> Gene: A Case Report and Review of the Literature
- A Midsummer Night's Gene: The familial Neurological Illness of Felix Mendelssohn
- A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family
- A Novel <em>CCM2</em> Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
- A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation
- A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study
- A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family
- A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
- A novel large deletion in CCM1 gene in a Tunisian family
- A Spinal Cavernous Malformation in Multiple Cerebral Cavernous Venous Malformations Syndrome
- A tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation
- Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
- Are there differences in clinical presentation, radiologic findings, and outcomes in female patients with cavernous malformation?
- Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage
- Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation
- Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman
- Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations
- Case Report: A novel heterozygous nonsense mutation in <em>KRIT1</em> cause hereditary cerebral cavernous malformation
- Cavernous Venous Malformation
- Central nervous system cavernous malformations: cross-sectional study assessing rebleeding risk after a second haemorrhage
- Cerebellar hemorrhage in a healthy young adult: a case report
- Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation
- Cerebral cavernous malformations: Typical and atypical imaging characteristics
- Cervical myelopathy revealing familial KRIT-1-mutated cerebrospinal cavernous malformations
- Circulating biomarkers in familial cerebral cavernous malformation
- Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease
- Clinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes
- Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden
- Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous Malformation
- Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene
- Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure
- Contralateral Interhemispheric Transfalcine Approach to the Basal Ganglia
- Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation
- De novo brain AVM following radiotherapy for cerebral cavernous malformation in a child: A 15-year clinical course
- De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations
- Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes
- Distant Recurrence of a Cerebral Cavernous Malformation in the Vicinity of a Developmental Venous Anomaly: Case Report of Local Oxy-Inflammatory Events
- Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation
- Endothelial Differentiation of <em>CCM1</em> Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature
- Familial Cavernous Hemangioma
- Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations
- Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy
- Familial cerebral cavernous malformation presenting with cerebellopontine angle syndrome in a patient with autosomal dominant polycystic kidney disease
- Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
- Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
- Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family
- Familial Cerebral Cavernous Malformations
- Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition
- Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat
- Feasibility and Morbidity of Magnetic Resonance Imaging-Guided Stereotactic Laser Ablation of Deep Cerebral Cavernous Malformations: A Report of 4 Cases
- Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous <em>KRIT1</em> Variation
- Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation
- First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing
- First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient
- Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity
- Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations
- Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management
- Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis
- High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort
- Identification of a novel LATS1 variant associated with familial cerebral cavernous malformations in a Chinese family
- Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation
- Lingual Seizures Due to Familial Cerebral Cavernous Malformations
- Magnetic susceptibility as a 1-year predictor of outcome in familial cerebral cavernous malformations: a pilot study
- Management of brothers with haemophilia A and familial cerebral cavernous malformations
- Medication intake and hemorrhage risk in patients with familial cerebral cavernous malformations
- Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
- Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view
- Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
- Multidrug-Loaded Lipid Nanoemulsions for the Combinatorial Treatment of Cerebral Cavernous Malformation Disease
- Multiple cerebral cavernous malformations: Clinical course of confirmed, assumed and non-familial disease
- Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
- Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease
- Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease
- Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
- Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness
- Novel COL4A2 mutation causing familial malformations of cortical development
- Novel Development of a Large Cerebral Cavernous Malformation in an Adolescent With a History of Familial Cerebral Cavernous Malformation Syndrome
- Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial
- Pediatric Cerebral Cavernous Malformation: A Single-Centered Experience of 23 Cases
- Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations
- Predictors of future haemorrhage from cerebral cavernous malformations: a retrospective cohort study
- Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome
- Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial
- Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene
- Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
- Seizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations
- Spinal involvement in pediatric familial cavernous malformation syndrome
- Stereotactic laser interstitial thermal therapy for epilepsy associated with solitary and multiple cerebral cavernous malformations
- Suboccipital Craniotomy for Resection of a Dorsal Medullary Cerebral Cavernous Malformation: 2-Dimensional Operative Video
- Teaching NeuroImage: Familial Cerebral Cavernous Malformation in PDCD10 Genotype
- The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
- Tobacco use increases lesion burden in familial cerebral cavernous malformation syndrome
- Towards a neurocognitive profile in familial cerebral cavernous malformations
- Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in <em>Pdcd10</em>-Depleted Mouse Endothelial Cells
- Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family
- Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease