Associated Papers
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs.
Scimone C et al.
American Journal of Physiology. Cell Physiology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.
Scimone C et al.
Frontiers in Neurology, 2018
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.
Rinaldi C et al.
Journal of the Neurological Sciences, 2017
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Scimone C et al.
Journal of Molecular Neuroscience : Mn, 2017
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Yang C et al.
Journal of Molecular Neuroscience : Mn, 2017
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
D'Angelo R et al.
Biomed Research International, 2013
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S et al.
Journal of Molecular Neuroscience : Mn, 2010
Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.
Marini V et al.
American Journal of Medical Genetics. Part A, 2004
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