Brain small vessel disease
Definition:
References:
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[1]. I Volonghi, et al. Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome. Curr Med Chem. 2010;17(13):1317-24. [Content Brief]
[2]. Igor Sibon, et al. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol. 2007 Aug;62(2):177-84. [Content Brief]
[3]. Sara Zagaglia, et al. Neurologic phenotypes associated with COL4A1/ 2 mutations: Expanding the spectrum of disease. Neurology. 2018 Nov 27;91(22):e2078-e2088. [Content Brief]
[4]. Satoko Miyatake, et al. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018 Dec;84(6):843-853. [Content Brief]
[5]. Silvia Lanfranconi, et al. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 2010 Aug;41(8):e513-8. [Content Brief]
[6]. Y Yamamoto, et al. Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathol Appl Neurobiol. 2011 Feb;37(1):94-113. [Content Brief]
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