Soraya Bardien

Summary

Affiliation: University of Stellenbosch
Country: South Africa

Publications

  1. doi request reprint LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, University of Stellenbosch, 4th Floor Fisan Building, PO Box 19063, Tygerberg, Cape Town, 7505, South Africa
    J Neural Transm 117:847-53. 2010
  2. ncbi request reprint Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia
    S Bardien
    Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa
    Eur J Neurol 17:510-2. 2010
  3. pmc A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    BMC Med Genet 10:2. 2009
  4. doi request reprint Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease
    Soraya Bardien
    University of Stellenbosch, Tygerberg 7505, Cape Town, South Africa
    Parkinsonism Relat Disord 15:116-21. 2009
  5. ncbi request reprint Analysis of exon dosage using MLPA in South African Parkinson's disease patients
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, Cape Town, South Africa
    Neurogenetics 11:305-12. 2010
  6. doi request reprint Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients
    Celia van der Merwe
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Tygerberg, Western Cape, South Africa
    S Afr Med J 102:848-51. 2012
  7. doi request reprint Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Biochem Biophys Res Commun 398:125-9. 2010
  8. doi request reprint Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides
    Hannique Human
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    Biochem Biophys Res Commun 393:751-6. 2010
  9. doi request reprint Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population
    William L Haylett
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Parkinsonism Relat Disord 18:89-92. 2012
  10. doi request reprint Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    Parkinsonism Relat Disord 17:501-8. 2011

Detail Information

Publications21

  1. doi request reprint LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, University of Stellenbosch, 4th Floor Fisan Building, PO Box 19063, Tygerberg, Cape Town, 7505, South Africa
    J Neural Transm 117:847-53. 2010
    ..This reveals that the four South African G2019S-positive probands (three Caucasian and one of mixed ancestry) share a common ancestor with the other haplotype 1-associated families reported worldwide...
  2. ncbi request reprint Novel non-sense GCH1 mutation in a South African family diagnosed with dopa-responsive dystonia
    S Bardien
    Division of Molecular Biology and Human Genetics, University of Stellenbosch, Cape Town, South Africa
    Eur J Neurol 17:510-2. 2010
    ..Dopa-responsive dystonia (DRD), a movement disorder characterized by onset in early childhood and a dramatic response to low doses of levodopa, has been shown to be caused by a number of different mutations in the GCH1 gene...
  3. pmc A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    BMC Med Genet 10:2. 2009
    ..The aim of the present study was to develop a rapid screening method to determine whether these mutations are present in the South African population...
  4. doi request reprint Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease
    Soraya Bardien
    University of Stellenbosch, Tygerberg 7505, Cape Town, South Africa
    Parkinsonism Relat Disord 15:116-21. 2009
    ..Further studies on this group of patients are needed to determine the contribution of heterozygous exon deletions and insertions in parkin. The present study is the first report on the molecular etiology of PD in South African patients...
  5. ncbi request reprint Analysis of exon dosage using MLPA in South African Parkinson's disease patients
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, Cape Town, South Africa
    Neurogenetics 11:305-12. 2010
    ..This indicates the possible involvement of other as yet unidentified PD genes in the development of the disease in the South African population...
  6. doi request reprint Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients
    Celia van der Merwe
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Tygerberg, Western Cape, South Africa
    S Afr Med J 102:848-51. 2012
    ..PD can be categorised into early-onset PD (EOPD) with an age at onset (AAO) of ≤50 years and late-onset PD (LOPD) with an AAO of 50 years...
  7. doi request reprint Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Biochem Biophys Res Commun 398:125-9. 2010
    ..Results from the present study showed that point mutations and homozygous exonic deletions in PINK1 are not a common cause of PD in the South African population...
  8. doi request reprint Investigation of mitochondrial sequence variants associated with aminoglycoside-induced ototoxicity in South African TB patients on aminoglycosides
    Hannique Human
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    Biochem Biophys Res Commun 393:751-6. 2010
    ....
  9. doi request reprint Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population
    William L Haylett
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Parkinsonism Relat Disord 18:89-92. 2012
    ..Further investigations of the molecular etiology of PD in the unique South African population, particularly the Black African and mixed ancestry sub-populations, are warranted...
  10. doi request reprint Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
    Parkinsonism Relat Disord 17:501-8. 2011
    ..We anticipate that other genes of such major impact exist for PD and look forward to their discovery...
  11. doi request reprint An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome
    Robyn M Rautenbach
    Ophthalmology Department, Stellenbosch University and Tygerberg Academic Hospital, Tygerberg 7505, South Africa
    Arch Ophthalmol 129:206-10. 2011
    ..To investigate the association between 2 lysyl oxidase-like 1 (LOXL1) polymorphisms, rs1048661 (R141L) and rs3825942 (G153D), and exfoliation syndrome (XFS) in black South African individuals...
  12. doi request reprint Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, P O Box 19063, Tygerberg, Cape Town 7505, South Africa
    J Neural Transm 118:889-97. 2011
    ..Mutation screening of MAPT and SNCAIP identified novel sequence variants in both genes and further studies are necessary to determine their possible functional consequences...
  13. ncbi request reprint The frequency of the H402 allele of CFH and its involvement with age-related maculopathy in an aged Black African Xhosa population
    Ari Ziskind
    Division of Ophthalmology, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Ophthalmic Genet 29:117-9. 2008
    ..The aim of the present study was to estimate the frequency of the C allele of the CFH Y402H variant in an aged South African Black Xhosa population and to describe the evidence of ARMD found...
  14. ncbi request reprint Mitochondrial impairment observed in fibroblasts from South African Parkinson's disease patients with parkin mutations
    Celia van der Merwe
    Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa Electronic address
    Biochem Biophys Res Commun 447:334-40. 2014
    ..Involvement of mitochondria as a key role player in PD pathogenesis will have important implications for the design of new and more effective therapies. ..
  15. ncbi request reprint The prevalence and genetics of Parkinson's disease in sub-Saharan Africans
    Janine Blanckenberg
    Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, University of Stellenbosch, Cape Town, South Africa
    J Neurol Sci 335:22-5. 2013
    ..More initiatives are needed to drive further research on PD in these populations and to facilitate collaborative projects across Africa. ..
  16. pmc Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene
    Rowena J Keyser
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, 8001, South Africa
    BMC Med Genet 10:105. 2009
    ..In the present study South African PD patients were screened for mutations in DJ-1 and we aimed to investigate the functional significance of a novel 16 bp deletion variant identified in one patient...
  17. doi request reprint A study of meningiomas in South Africa: investigating a correlation between clinical presentation, histopathology and genetic markers
    Johannes Vivier
    Division of Neurosurgery, University of Stellenbosch, Cape Town, South Africa
    Br J Neurosurg 23:63-70. 2009
    ..To determine whether there are certain genetic markers which correlate with particular clinical characteristics of meningiomas including multiplicity, recurrence and calvarial erosion...
  18. ncbi request reprint A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features
    Soraya Bardien
    Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
    Mov Disord 22:2083-9. 2007
    ..We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations...
  19. doi request reprint Screening of two indel polymorphisms in the 5'UTR of the DJ-1 gene in South African Parkinson's disease patients
    Brigitte Glanzmann
    Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, P O Box 19063, Cape Town, 7505, South Africa
    J Neural Transm 121:135-8. 2014
    ..Further studies on these variants in other populations are warranted given their possible role in transcriptional regulation and DJ-1's critical role in alleviating oxidative stress. ..
  20. doi request reprint EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa
    Janine Blanckenberg
    Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa Electronic address
    Neurobiol Aging 35:445.e1-3. 2014
    ..The mutations were not found in our study, suggesting that they are not a common cause of PD in South African patients. Further studies are needed on the frequency of these 2 mutations in other sub-Saharan African populations. ..
  21. pmc Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
    Luzuko O Matolweni
    The Cardiac Clinic, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa
    BMC Med Genet 7:29. 2006
    ..By linkage analysis, ARVC type 6 was previously mapped to a 10.6 cM region on chromosome 10p12-p14 in a large North American kindred. To date, the genetic defect that causes ARVC6 has not been identified...