肆客足球

?Parkinson's Disease

Publications

Book Chapter

Book titled Parkinson's disease. Second Edition. Chapter titled: LRRK2-associated Parkinson's disease. Jonathan Carr & Soraya Bardien. Editors:  Ronald F. Pfeiffer, Zbigniew K. Wszolek and Manuchair Ebadi. CRC Press Taylor and Francis Group, 2013.

Peer-reviewed publications (all)

1. van der Merwe C, Loos B, Swart C, Kinnear C, Henning F, van der Merwe L, Pillay K, Muller N, Zaharie D, Engelbrecht L, Carr J, Bardien S. Mitochondrial impairment observed in fibroblasts from South African Parkinson's disease patients with parkin mutations. In press at  Biochem Biophys Res Commun.

2. Bardien S, Blanckenberg J, van der Merwe L, Farrer MJ, Ross OA. Patient-Control association study of the LRRK2 Gene in South African Parkinson's disease patients. Mov Disord 2013; 28(14):2039-40

3. Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S,  Bozi M, Brice A, Brighina L, Carr J et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson's Disease (GEO-PD) consortium.  Mov Disord. 2013 ; 28(12):1740-4

4. Dandara C, Greenberg J, Lambie L, Lombard Z, Naicker T, Ramesar R, Ramsay M, Roberts L, Theron M, Venter P, Bardien S. Direct-to-consumer genetic testing: To test or not to test, that is the question. S Afr Med J 2013; 103(8):510-512

5. van der Merwe C, Haylett W, Harvey J, Lombard D, Bardien S, Carr J. Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients S Afr Med J 2012;102(11 Pt 1):848-851.

6. Haylett W, Keyser RJ, du Plessis MC, van der Merwe C, Blanckenberg J, Lombard D, Carr J, Bardien S. Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. Parkinsonism Relat Disord. 2012;18(1):89-92.

7. Harris T, Bardien S, Schaaf HS, Petersen L, de Jong G, Fagan JJ. Aminoglycoside-induced hearing loss in HIV-positive and HIV-negative multidrug-resistant tuberculosis patients. S Afr Med J. 2012;102(6 Pt 2):363-366.

8. Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J et al. Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.  Lancet Neurol 2011;10(10):898-908 doi: 10.1016/S1474-4422(11)70175-2.

9. Bardien S, Lesage S, Brice A, Carr J. Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease. Review. Parkinsonism Relat Disord. 2011;17(7):501-508.

10. Keyser RJ, Oppon E, Carr JA, Bardien S. Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients. J Neural Transm. 2011 ;118(6):889-897.

11. Rautenbach RM, Bardien S, Harvey J, Ziskind A. An Investigation into LOXL1 variants in black South African individuals with exfoliation syndrome. Arch Ophthalmol. 2011;129(2):206-210

12. Keyser RJ, Lombard D, Veikondis R, Carr J, Bardien S. Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics. 2010;11(3):305-312.

13. Bardien S, Keyser R, Lombard D, du Plessis M, Human H, Carr J. Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia. Eur J Neurol 2010;17(3): 510-512.

14. Keyser RJ, Lesage S, Brice A, Carr J, Bardien S. Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. Biochem Biophys Res Commun. 2010; 398(1): 125-129

15. Bardien S, Marsberg A, Keyser R, Lombard D, Lesage S, Brice A, Carr J. LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients. J Neural Transm. 2010;117(7):847-853

16. Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet. 2010;19(10):1998-2004.

17. Human H, Hagen CM, de Jong G, Harris T, Lombard D, Christiansen M, Bardien S. Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides. Biochem Biophys Res Commun 2010; 393: 751-756

18. Bardien S, de Jong G, Schaaf HS, Harris T, Fagan J, Petersen L. Aminoglycoside-induced hearing loss: South Africans at risk. S Afr Med J. 2009; 99 (6): 440-441 Editorial.

19. Keyser RJ, van der Merwe L, Venter M, Kinnear C, Warnich L, Carr J, Bardien S. Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene. BMC Med Genet 2009;10: 105.

20. Vivier J, Bardien S, Van der Merwe L, Brusnicky J, Zaharie D, Keyser R, Hewlett R, de Jong G, Hartzenberg B. A study of meningiomas in South Africa:  Investigating a correlation between clinical presentation, histopathology and genetic markers. Br J Neurosurg 2009; 23(1): 63-70.

21. Bardien S, Keyser, R, Yako Y, Lombard, D, Carr J Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease. Parkinsonism Relat Disord. 2009; 15(2): 116-121.

22. Human H, Lombard D, de Jong G, Bardien S. A South African family with the mitochondrial A1555G mutation on haplogroup L0d. Biochem Biophys Res Commun 2009; 382(2): 390-394.

23. Bardien S, Human H, Harris T, Hefke G, Veikondis R, Schaaf HS, van der Merwe L, Greinwald JH, Fagan J, de Jong G. A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet 2009; 10: 2.

24. Ziskind A, Bardien S, van der Merwe L, Webster AR. The frequency of the H402 allele of CFH and its involvement with age-related maculopathy in an aged black African Xhosa population. Ophthalmic Genet 2008; 29(3): 117-119.

25. Greenberg J, Bardien S, Carr J. Huntington disease-like 2 in South Africa.  S Afr Med J 2008; 98(3): 166.

26. Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J. A South African mixed ancestry family with Huntington disease-like 2: Clinical and genetic features. Mov Disord 2007; 22(14):2083-2089.

27. Bardien S*, Matolweni L*, Oppon E, Rebello G, Munclinger M, Ramesar R, Watkins H, Mayosi B. Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVD6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes. BMC Med Genet 2006; 7: 29. * joint first authors

28. Chauke G, Bardien S, Moolman-Smook H, Freeman V, Makubalo Z, Brink P, Corfield V. Novel mutations identified within the 3' region of the PKD1 gene in South African polycystic kidney disease patients. SA J Science 2006; 102: 317-321.

29. Rebello G, Ramesar R, Vorster A, Roberts L, Ehrenreich L, Oppon E, Gama D, Bardien S, Greenberg J, Bonapace G, Waheed A, Shah GN, Sly WS. Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A. 2004; 101: 6617-6622.

30. Kelso J, Visagie J, Theiler G, Christoffels A, Bardien S, Smedley D, Otgaar D, Greyling G, Jongeneel V, McCarthy M, Hide T, Hide W. eVOC: A controlled vocabulary for unifying gene expression data. Gen Res 2003;13: 1222-1230

31. Bardien-Kruger S, Wulff H, Arieff Z, Brink P, Chandy KG, Corfield V. Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). European J Hum Genet 2002;10: 36-43

1. Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, Siciliano MJ, Bryan J. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. Genomics 2000; 65: 146-156
   
    

33. Tang W, Bardien S, Bhattacharya SS, Prescott SM. Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa. Gene 1999; 239: 185-192

34. Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar R. Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. European J Hum Genet 1999; 7: 332-338

35. Goliath R, Bardien S, September A, Martin R, Ramesar R, Greenberg J. Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa. Hum Mutat Suppl 1 1998: S40-S41

36. Ramesar R, Bardien S, Beighton P, Bryer A. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregates with distinct haplotypes in South African families. Hum Genet 1997; 100: 131-137

37. Bardien S, Ramesar R, Bhattacharya S, Greenberg J. Retinitis pigmentosa locus on 17q (RP17): fine localisation to 17q22 and exclusion of the PDEG and TIMP2 genes. Hum Genet 1997; 101: 13-17

38. Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S and Beighton P. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. J Med Genet 1996; 33: 511-514

39. Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, Beighton P, Ramesar R and Bhattacharya SS. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 1995; 4: 1459-1462

40. Dorrington RA, Bardien S and Rawlings DE. The broad-host-range plasmid pTF-FC2 requires a primase-like protein for autonomous replication in Escherichia coli. Gene 1991 108: 7-14

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