Search Results - "Maksemous, N"

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  1. 1

    Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort by Dunn, P. J., Harvey, N. R., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., Griffiths, L. R.

    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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    Journal Article
  2. 2

    Investigating diagnostic sequencing techniques for CADASIL diagnosis by Dunn, P J, Maksemous, N, Smith, R A, Sutherland, H G, Haupt, L M, Griffiths, L R

    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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    Journal Article
  3. 3

    Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene by Roy, B, Maksemous, N, Smith, R A, Menon, S, Davies, G, Griffiths, L R

    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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    Journal Article