Smith DC - Search Results

1

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.

Atadzhanov M, Smith DC, Mwaba MH, Siddiqi OK, Bryer A, Greenberg LJ. Atadzhanov M, et al. Among authors: smith dc. Cerebellum Ataxias. 2017 Nov 29;4:17. doi: 10.1186/s40673-017-0075-5. eCollection 2017. Cerebellum Ataxias. 2017. PMID: 29214039 Free PMC article.

2

Inherited polyglutamine spinocerebellar ataxias in South Africa.

Smith DC, Bryer A, Watson LM, Greenberg LJ. Smith DC, et al. S Afr Med J. 2012 Jun 14;102(8):683-6. doi: 10.7196/samj.5521. S Afr Med J. 2012. PMID: 22831947

3

Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7.

Smith DC, Atadzhanov M, Mwaba M, Greenberg LJ. Smith DC, et al. J Neurol Sci. 2015 Jul 15;354(1-2):75-8. doi: 10.1016/j.jns.2015.04.053. Epub 2015 May 9. J Neurol Sci. 2015. PMID: 26003224

4

The hereditary ataxias: Where are we now? Four decades of local research.

Smith DC, Greenberg LJ, Bryer A. Smith DC, et al. S Afr Med J. 2016 May 25;106(6 Suppl 1):S38-41. doi: 10.7196/SAMJ.2016.v106i6.10989. S Afr Med J. 2016. PMID: 27245522

5

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy.

Watson L, Smith DC, Scholefield J, Ballo R, Kidson S, Greenberg LJ, Wood MJ. Watson L, et al. Among authors: smith dc. S Afr Med J. 2016 May 25;106(6 Suppl 1):S107-9. doi: 10.7196/SAMJ.2016.v106i6.11010. S Afr Med J. 2016. PMID: 27245542

6

Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells.

Burman RJ, Watson LM, Smith DC, Raimondo JV, Ballo R, Scholefield J, Cowley SA, Wood MJA, Kidson SH, Greenberg LJ. Burman RJ, et al. Among authors: smith dc. PLoS One. 2021 Feb 24;16(2):e0247434. doi: 10.1371/journal.pone.0247434. eCollection 2021. PLoS One. 2021. PMID: 33626063 Free PMC article.

7

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.

Scholefield J, Watson L, Smith D, Greenberg J, Wood MJ. Scholefield J, et al. Eur J Hum Genet. 2014 Dec;22(12):1369-75. doi: 10.1038/ejhg.2014.39. Epub 2014 Mar 26. Eur J Hum Genet. 2014. PMID: 24667781 Free PMC article.

8

Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles.

Smith DC, Esterhuizen A, Greenberg J. Smith DC, et al. J Mol Diagn. 2013 Sep;15(5):706-9. doi: 10.1016/j.jmoldx.2013.05.009. Epub 2013 Jul 17. J Mol Diagn. 2013. PMID: 23871770 Free article.

9

Genetic testing approaches for hereditary breast cancer: Perspectives from a private diagnostic laboratory.

Smith DC, Gardiner SA, Conradie M, Gerber J, Loubser F. Smith DC, et al. S Afr Med J. 2020 Sep 30;110(10):988-992. doi: 10.7196/SAMJ.2020.v110i10.14709. S Afr Med J. 2020. PMID: 33205725

10

The immunogenetics of tuberculosis (TB) susceptibility.

Ndong Sima CAA, Smith D, Petersen DC, Schurz H, Uren C, Möller M. Ndong Sima CAA, et al. Among authors: smith d. Immunogenetics. 2023 Jun;75(3):215-230. doi: 10.1007/s00251-022-01290-5. Epub 2022 Dec 13. Immunogenetics. 2023. PMID: 36512056 Review.

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