Glanzmann B - Search Results

1

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.

Carr J, Guella I, Szu-Tu C, Boolay S, Glanzmann B, Farrer MJ, Bardien S. Carr J, et al. Among authors: glanzmann b. Mov Disord. 2016 Mar;31(3):423-5. doi: 10.1002/mds.26524. Epub 2016 Feb 10. Mov Disord. 2016. PMID: 26860075 No abstract available.

2

Screening of two indel polymorphisms in the 5'UTR of the DJ-1 gene in South African Parkinson's disease patients.

Glanzmann B, Lombard D, Carr J, Bardien S. Glanzmann B, et al. J Neural Transm (Vienna). 2014 Feb;121(2):135-8. doi: 10.1007/s00702-013-1094-x. Epub 2013 Sep 20. J Neural Transm (Vienna). 2014. PMID: 24052110

3

The prevalence and genetics of Parkinson's disease in sub-Saharan Africans.

Blanckenberg J, Bardien S, Glanzmann B, Okubadejo NU, Carr JA. Blanckenberg J, et al. Among authors: glanzmann b. J Neurol Sci. 2013 Dec 15;335(1-2):22-5. doi: 10.1016/j.jns.2013.09.010. Epub 2013 Sep 15. J Neurol Sci. 2013. PMID: 24079843 Review.

4

Identification of a common founder couple for 40 South African Afrikaner families with Parkinson's disease.

Geldenhuys G, Glanzmann B, Lombard D, Boolay S, Carr J, Bardien S. Geldenhuys G, et al. Among authors: glanzmann b. S Afr Med J. 2014 May 12;104(6):413-9. doi: 10.7196/samj.7747. S Afr Med J. 2014. PMID: 25214250

5

Exonic rearrangements in the known Parkinson's disease-causing genes are a rare cause of the disease in South African patients.

van der Merwe C, Carr J, Glanzmann B, Bardien S. van der Merwe C, et al. Among authors: glanzmann b. Neurosci Lett. 2016 Apr 21;619:168-71. doi: 10.1016/j.neulet.2016.03.028. Epub 2016 Mar 18. Neurosci Lett. 2016. PMID: 27001088

6

A new tool for prioritization of sequence variants from whole exome sequencing data.

Glanzmann B, Herbst H, Kinnear CJ, Möller M, Gamieldien J, Bardien S. Glanzmann B, et al. Source Code Biol Med. 2016 Jul 1;11:10. doi: 10.1186/s13029-016-0056-8. eCollection 2016. Source Code Biol Med. 2016. PMID: 27375772 Free PMC article.

7

Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa.

Scholtz D, Jooste T, Möller M, van Coller A, Kinnear C, Glanzmann B. Scholtz D, et al. Among authors: glanzmann b. Int J Mol Sci. 2023 Jul 28;24(15):12119. doi: 10.3390/ijms241512119. Int J Mol Sci. 2023. PMID: 37569495 Free PMC article. Review.

8

Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa.

Cornelissen HM, Glanzmann B, Van Coller A, Engelbrecht C, Abraham DR, Reddy K, Möller M, Kinnear C, Glashoff RH, Esser M. Cornelissen HM, et al. Among authors: glanzmann b. S Afr Med J. 2021 Oct 5;111(10):998-1005. doi: 10.7196/SAMJ.2021.v111i10.15341. S Afr Med J. 2021. PMID: 34949297

9

The complete genome sequence of the African buffalo (Syncerus caffer).

Glanzmann B, Möller M, le Roex N, Tromp G, Hoal EG, van Helden PD. Glanzmann B, et al. BMC Genomics. 2016 Dec 7;17(1):1001. doi: 10.1186/s12864-016-3364-0. BMC Genomics. 2016. PMID: 27927182 Free PMC article.

10

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.

Glanzmann B, Möller M, Schoeman M, Urban M, van Helden PD, Frigati L, Grewal R, Pieters H, Loos B, Hoal EG, Glashoff RH, Cornelissen H, Rabie H, Esser MM, Kinnear CJ. Glanzmann B, et al. BMC Med Genet. 2020 Jun 5;21(1):124. doi: 10.1186/s12881-020-01054-6. BMC Med Genet. 2020. PMID: 32503528 Free PMC article.

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