Maksemous N - Search Results

1

Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.

Dunn PJ, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: maksemous n. Clin Chim Acta. 2024 Dec 30;567:120120. doi: 10.1016/j.cca.2024.120120. Online ahead of print. Clin Chim Acta. 2024. PMID: 39743006 Free article.

2

PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Alfayyadh MM, Maksemous N, Sutherland HG, Lea RA, Griffiths LR. Alfayyadh MM, et al. Among authors: maksemous n. Clin Genet. 2024 Oct 12. doi: 10.1111/cge.14625. Online ahead of print. Clin Genet. 2024. PMID: 39394929

3

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.

Alfayyadh MM, Maksemous N, Sutherland HG, Lea RA, Griffiths LR. Alfayyadh MM, et al. Among authors: maksemous n. Genes (Basel). 2024 Mar 31;15(4):443. doi: 10.3390/genes15040443. Genes (Basel). 2024. PMID: 38674378 Free PMC article. Review.

4

Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.

Dunn PJ, Lea RA, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: maksemous n. Hum Genet. 2023 Sep;142(9):1361-1373. doi: 10.1007/s00439-023-02584-8. Epub 2023 Jul 8. Hum Genet. 2023. PMID: 37422595 Free PMC article.

5

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Maksemous N, Harder AVE, Ibrahim O, Vijfhuizen LS, Sutherland H, Pelzer N, de Boer I, Terwindt GM, Lea RA, van den Maagdenberg AMJM, Griffiths LR. Maksemous N, et al. Mol Neurobiol. 2023 Jun;60(6):3034-3043. doi: 10.1007/s12035-023-03255-5. Epub 2023 Feb 14. Mol Neurobiol. 2023. PMID: 36786913 Free PMC article.

6

Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease.

Dunn PJ, Lea RA, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: maksemous n. Mol Neurobiol. 2022 Dec;59(12):7293-7302. doi: 10.1007/s12035-022-03039-3. Epub 2022 Sep 29. Mol Neurobiol. 2022. PMID: 36175824 Free PMC article.

7

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine.

Maksemous N, Blayney CD, Sutherland HG, Smith RA, Lea RA, Tran KN, Ibrahim O, McArthur JR, Haupt LM, Cader MZ, Finol-Urdaneta RK, Adams DJ, Griffiths LR. Maksemous N, et al. Front Mol Neurosci. 2022 Jul 19;15:892820. doi: 10.3389/fnmol.2022.892820. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35928792 Free PMC article.

8

Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.

Dunn PJ, Harvey NR, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: maksemous n. Mol Neurobiol. 2022 Sep;59(9):5366-5378. doi: 10.1007/s12035-022-02914-3. Epub 2022 Jun 14. Mol Neurobiol. 2022. PMID: 35699875 Free PMC article.

9

Discriminating head trauma outcomes using machine learning and genomics.

Ibrahim O, Sutherland HG, Lea RA, Nasrallah F, Maksemous N, Smith RA, Haupt LM, Griffiths LR. Ibrahim O, et al. Among authors: maksemous n. J Mol Med (Berl). 2022 Feb;100(2):303-312. doi: 10.1007/s00109-021-02158-z. Epub 2021 Nov 19. J Mol Med (Berl). 2022. PMID: 34797388

10

Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.

Xue H, Maksemous N, Sidhom D, Ma L, Chen S, Wu J, Feng Y, M Haupt L, R Griffiths L. Xue H, et al. Among authors: maksemous n. J Genet. 2021;100:58. J Genet. 2021. PMID: 34470922 Free article.

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