Bardien S - Search Results

1

Analysis of exon dosage using MLPA in South African Parkinson's disease patients.

Keyser RJ, Lombard D, Veikondis R, Carr J, Bardien S. Keyser RJ, et al. Among authors: bardien s. Neurogenetics. 2010 Jul;11(3):305-12. doi: 10.1007/s10048-009-0229-6. Epub 2009 Dec 15. Neurogenetics. 2010. PMID: 20013014

2

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.

Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J. Bardien S, et al. Mov Disord. 2007 Oct 31;22(14):2083-9. doi: 10.1002/mds.21672. Mov Disord. 2007. PMID: 17708569

3

Huntington's disease--like 2 in South Africa.

Greenberg J, Bardien S, Carr J. Greenberg J, et al. Among authors: bardien s. S Afr Med J. 2008 Mar;98(3):166. S Afr Med J. 2008. PMID: 18350210 No abstract available.

4

Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.

Bardien S, Keyser R, Yako Y, Lombard D, Carr J. Bardien S, et al. Parkinsonism Relat Disord. 2009 Feb;15(2):116-21. doi: 10.1016/j.parkreldis.2008.04.005. Epub 2008 Jun 2. Parkinsonism Relat Disord. 2009. PMID: 18514563

5

A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness.

Bardien S, Human H, Harris T, Hefke G, Veikondis R, Schaaf HS, van der Merwe L, Greinwald JH, Fagan J, de Jong G. Bardien S, et al. BMC Med Genet. 2009 Jan 13;10:2. doi: 10.1186/1471-2350-10-2. BMC Med Genet. 2009. PMID: 19144107 Free PMC article.

6

A study of meningiomas in South Africa: investigating a correlation between clinical presentation, histopathology and genetic markers.

Vivier J, Bardien S, Van der Merwe L, Brusnicky J, Zaharie D, Keyser R, Hewlett R, de Jong G, Hartzenberg B. Vivier J, et al. Among authors: bardien s. Br J Neurosurg. 2009 Feb;23(1):63-70. doi: 10.1080/02688690802593064. Br J Neurosurg. 2009. PMID: 19234911

7

A South African family with the mitochondrial A1555G mutation on haplogroup L0d.

Human H, Lombard D, de Jong G, Bardien S. Human H, et al. Among authors: bardien s. Biochem Biophys Res Commun. 2009 May 1;382(2):390-4. doi: 10.1016/j.bbrc.2009.03.032. Epub 2009 Mar 12. Biochem Biophys Res Commun. 2009. PMID: 19285484

8

Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia.

Bardien S, Keyser R, Lombard D, du Plessis M, Human H, Carr J. Bardien S, et al. Eur J Neurol. 2010 Mar;17(3):510-2. doi: 10.1111/j.1468-1331.2009.02725.x. Epub 2009 Jun 29. Eur J Neurol. 2010. PMID: 19566901

9

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

Keyser RJ, van der Merwe L, Venter M, Kinnear C, Warnich L, Carr J, Bardien S. Keyser RJ, et al. Among authors: bardien s. BMC Med Genet. 2009 Oct 13;10:105. doi: 10.1186/1471-2350-10-105. BMC Med Genet. 2009. PMID: 19825160 Free PMC article.

10

Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides.

Human H, Hagen CM, de Jong G, Harris T, Lombard D, Christiansen M, Bardien S. Human H, et al. Among authors: bardien s. Biochem Biophys Res Commun. 2010 Mar 19;393(4):751-6. doi: 10.1016/j.bbrc.2010.02.075. Epub 2010 Feb 18. Biochem Biophys Res Commun. 2010. PMID: 20171168

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