Articles with "cause cerebral" as a keyword



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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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Published in 2017 at "Nature Genetics"

DOI: 10.1038/ng0217-317b

Abstract: Nat. Genet.; 10.1038/ng.3661; corrected online 19 September 2016 In the version of this article initially published, the names of authors Geraldine Aubert, Gerardine Quaghebeur and Yoann Rose were misspelled. The error has been corrected in… read more here.

Keywords: cerebral microangiopathy; cause cerebral; microangiopathy leukoencephalopathy; snord118 cause ... See more keywords
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Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases

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Published in 2022 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200044

Abstract: Background and Objectives Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease caused by homozygous or compound heterozygous variations in the high-temperature requirement A serine peptidase 1 (HTRA1)… read more here.

Keywords: cause cerebral; heterozygous htra1; htra1; htra1 mutations ... See more keywords