Maksemous N - Search Results

1

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.

2

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.

Dunn P, Albury CL, Maksemous N, Benton MC, Sutherland HG, Smith RA, Haupt LM, Griffiths LR. Dunn P, et al. Among authors: maksemous n. Front Genet. 2018 Feb 7;9:20. doi: 10.3389/fgene.2018.00020. eCollection 2018. Front Genet. 2018. PMID: 29467791 Free PMC article. Review.

3

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.

4

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Maksemous N, Roy B, Smith RA, Griffiths LR. Maksemous N, et al. Mol Genet Genomic Med. 2016 Jan 20;4(2):211-22. doi: 10.1002/mgg3.196. eCollection 2016 Mar. Mol Genet Genomic Med. 2016. PMID: 27066515 Free PMC article.

5

Tiered analysis of whole-exome sequencing for epilepsy diagnosis.

Dunn PJ, Maher BH, Albury CL, Stuart S, Sutherland HG, Maksemous N, Benton MC, Smith RA, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: maksemous n. Mol Genet Genomics. 2020 May;295(3):751-763. doi: 10.1007/s00438-020-01657-x. Epub 2020 Mar 7. Mol Genet Genomics. 2020. PMID: 32146541

6

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.

Maksemous N, Smith RA, Sutherland HG, Sampaio H, Griffiths LR. Maksemous N, et al. Int J Mol Sci. 2018 Oct 11;19(10):3113. doi: 10.3390/ijms19103113. Int J Mol Sci. 2018. PMID: 30314295 Free PMC article.

7

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.

Roy B, Maksemous N, Smith RA, Menon S, Davies G, Griffiths LR. Roy B, et al. Among authors: maksemous n. Mutat Res. 2012 Apr 1;732(1-2):3-8. doi: 10.1016/j.mrfmmm.2012.02.004. Epub 2012 Feb 21. Mutat Res. 2012. PMID: 22373597

8

Eye movement disorders are an early manifestation of CACNA1A mutations in children.

Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP. Tantsis EM, et al. Among authors: maksemous n. Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27. Dev Med Child Neurol. 2016. PMID: 26814174 Free article.

9

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Maksemous N, Smith RA, Haupt LM, Griffiths LR. Maksemous N, et al. Hum Genomics. 2016 Nov 24;10(1):38. doi: 10.1186/s40246-016-0093-z. Hum Genomics. 2016. PMID: 27881154 Free PMC article.

10

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Bradshaw G, Lualhati RR, Albury CL, Maksemous N, Roos-Araujo D, Smith RA, Benton MC, Eccles DA, Lea RA, Sutherland HG, Haupt LM, Griffiths LR. Bradshaw G, et al. Among authors: maksemous n. Front Immunol. 2018 Mar 5;9:420. doi: 10.3389/fimmu.2018.00420. eCollection 2018. Front Immunol. 2018. PMID: 29556235 Free PMC article.

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