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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

Autor: João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista

Publikováno v: Case Reports in Neurology, Vol 8, Iss 3, Pp 193-198 (2016)

Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We

Externí odkaz: https://doaj.org/article/ce4f356c2c8647048e9ec332ac903e38

Plasma water T 2 detects age-stratified differences in cardiometabolic health among familial CCM patients with Hispanic CCM1 mutation.

Autor: Croft J; Center of Cancer Research, Department of Molecular and Translation Medicine Texas Tech University Health Science Center El Paso, El Paso, TX 79905, USA., Sandoval DF; Center of Diabetes and Metabolic Syndrome, Department of Molecular and Translation Medicine Texas Tech University Health Science Center El Paso, El Paso, TX 79905, USA., Cistola D; Center of Diabetes and Metabolic Syndrome, Department of Molecular and Translation Medicine Texas Tech University Health Science Center El Paso, El Paso, TX 79905, USA., Zhang J; Center of Cancer Research, Department of Molecular and Translation Medicine Texas Tech University Health Science Center El Paso, El Paso, TX 79905, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 15. Date of Electronic Publication: 2023 Aug 15.

Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations.

Autor: Mao, Cheng-yuan^1,2 (AUTHOR), Yang, Jing¹ (AUTHOR), Zhang, Shu-yu^1,2 (AUTHOR), Luo, Hai-yang^1,2 (AUTHOR), Song, Bo¹ (AUTHOR), Liu, Yu-tao¹ (AUTHOR), Wu, Jun¹ (AUTHOR), Sun, Shi-lei¹ (AUTHOR), Yang, Zhi-hua^1,2 (AUTHOR), Du, Pan³ (AUTHOR), Wang, Yao-he³ (AUTHOR), Shi, Chang-he^1,2 (AUTHOR), Xu, Yu-ming^1,2 (AUTHOR) xuyuming@zzu.edu.cn

Publikováno v: International Journal of Neuroscience. Dec2016, Vol. 126 Issue 12, p1071-1076. 6p.

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation

Autor: Miguel Viana-Baptista, João Pedro Marto, Sofia Calado, Inês Gil

Publikováno v: Case Reports in Neurology
Case Reports in Neurology, Vol 8, Iss 3, Pp 193-198 (2016)

Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa9fc5e2b003261e8047cd713d33fbb
https://doi.org/10.1159/000449281