Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations-Reference-Cited by-同舟云学术

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Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations

Published:2024-11 Issue:11 Volume:33 Page:107947
ISSN:1052-3057
Container-title:Journal of Stroke and Cerebrovascular Diseases
language:en
Short-container-title:Journal of Stroke and Cerebrovascular Diseases

Author:

Galvão Gustavo da Fontoura^ORCID,Trefilio Luisa Menezes,Salvio Andreza Lemos,da Silva Elielson Veloso,Alves-Leon Soniza Vieira,Fontes-Dantas Fabrícia Lima^ORCID,de Souza Jorge Marcondes^ORCID

Funder

MCTI

CAPES

Carlos Chagas Filho Foundation for Research Support of Rio de Janeiro State

CNPq

Publisher

Elsevier BV

Reference57 articles.

1. Natural history of cerebral cavernous malformations. Handbook of clinical neurology;Ene;Netherlands,2017

2. Synopsis of guidelines for the clinical management of cerebral cavernous malformations: consensus recommendations based on systematic literature review by the angioma alliance scientific advisory board clinical experts panel;Akers;Neurosurgery,2017

3. Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management;Bacigaluppi;Clin Genet,2013

4. First report of concomitant pathogenic mutations within MGC4607/CCM2 and KRIT1/CCM1 in a familial cerebral cavernous malformation patient;da Fontoura Galvão;World Neurosurg,2020

5. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis;Akers;Hum Mol Genet,2009

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