Search Results - "Maksemous, N"
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Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort
Published in Molecular neurobiology (01-09-2022)“…Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial…”
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Investigating diagnostic sequencing techniques for CADASIL diagnosis
Published in Human genomics (08-01-2020)“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in…”
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Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene
Published in Mutation research (01-04-2012)“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of small vessel caused by…”
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