First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient-Reference-Cited by-同舟云学术

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First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient

Published:2020-10 Issue: Volume:142 Page:481-486.e1
ISSN:1878-8750
Container-title:World Neurosurgery
language:en
Short-container-title:World Neurosurgery

Author:

da Fontoura Galvão Gustavo,Veloso da Silva Elielson,Fontes-Dantas Fabrícia Lima,Filho Ricardo Castro,Alves-Leon Soniza,Marcondes de Souza Jorge

Funder

Conselho Nacional de Pesquisa

Alliance Cavernoma Brasil

Publisher

Elsevier BV

Subject

Clinical Neurology,Surgery

Reference35 articles.

1. Population-based prevalence of cerebral cavernous malformations in older adults: Mayo Clinic study of aging;Flemming;JAMA Neurol,2017

2. Cerebral cavernous malformations: an update on prevalence, molecular genetic analyses, and genetic counselling;Spiegler;Mol Syndromol,2018

3. Susceptibility-weighted imaging for the evaluation of patients with familial cerebral cavernous malformations: a comparison with T2-weighted fast spin-echo and gradient-echo sequences;De Souza;Am J Neuroradiol,2008

4. The natural history of intracranial cavernous malformations;Gross;Neurosurg Focus,2011

5. 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;Fontes-Dantas;World Neurosurg,2020

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations;Journal of Stroke and Cerebrovascular Diseases;2024-11

2. Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations;New England Journal of Medicine;2021-09-09

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