Lista de obras -

A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation

scientific article published on 07 October 2019

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

artículo científico publicado en 2007

A model PD registry for countries with limited resources

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

A review of genome-wide transcriptomics studies in Parkinson's disease

artículo científico publicado en 2017

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

artículo científico publicado en 2009

A systematic review of genetic variants associated with metabolic syndrome in patients with schizophrenia.

artículo científico publicado en 2015

Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson's Disease Patients.

artículo científico publicado en 2016

Aminoglycoside-induced hearing loss in HIV-positive and HIV-negative multidrug-resistant tuberculosis patients.

artículo científico publicado en 2012

Aminoglycoside-induced hearing loss: South Africans at risk.

artículo científico publicado en 2009

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q ⬇️

artículo científico publicado el 1 de agosto de 1995

An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome.

artículo científico publicado en 2011

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

scientific article published on 15 December 2009

Antioxidant effects of curcumin in models of neurodegeneration, aging, oxidative and nitrosative stress: A review

artículo científico publicado en 2019

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

artículo científico publicado en 2004

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

artículo científico publicado en 2006

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease

artículo científico publicado en 2010

Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease

artículo científico publicado en 2020

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

artículo científico publicado en 2011

Clinical findings and genetic screening for copy number variation mutations in a cohort of South African patients with Parkinson's disease

artículo científico publicado en 2016

Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa

artículo científico publicado en 2013

Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease

artículo científico publicado en 2021

Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients

artículo científico publicado en 2012

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease

artículo científico publicado en 2019

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

artículo científico publicado en 2011

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients

artículo científico publicado en 2010

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

artículo científico publicado en 2015

Mitochondrial impairment observed in fibroblasts from South African Parkinson's disease patients with parkin mutations.

artículo científico publicado en 2014

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population

artículo científico publicado en 2011

Neurodegenerative disorders: dysregulation of a carefully maintained balance?

artículo científico

Novel LRRK2 mutations in Parkinsonism

artículo científico publicado en 2015

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

artículo científico publicado en 2018

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

artículo científico publicado en 2020

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research

artículo científico publicado en 2018

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

artículo científico publicado en 2010

Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients

artículo científico publicado en 2013

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

artículo científico publicado en 2013

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools

artículo científico publicado en 2021

Rutin as a Potent Antioxidant: Implications for Neurodegenerative Disorders.

artículo científico publicado en 2018

Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients

scientific article published on 04 February 2020

The Frequency of the H402 Allele of CFH and Its Involvement with Age-Related Maculopathy in an Aged Black African Xhosa Population

The broad-host-range plasmid pTF-FC2 requires a primase-like protein for autonomous replication in Escherichia coli ⬇️

artículo científico publicado el 1 de diciembre de 1991

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

artículo científico

The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects

scientific article published on 21 June 2019

Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease

scientific article published on 27 November 2018

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.

artículo científico publicado en 2017

Wild-type and mutant (G2019S) leucine-rich repeat kinase 2 (LRRK2) associate with subunits of the translocase of outer mitochondrial membrane (TOM) complex

scientific article published on 28 December 2018

eVOC: a controlled vocabulary for unifying gene expression data

artículo científico publicado en 2003

Lista de obras de

A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation

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

A model PD registry for countries with limited resources

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

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

A review of genome-wide transcriptomics studies in Parkinson's disease

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

A systematic review of genetic variants associated with metabolic syndrome in patients with schizophrenia.

Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson's Disease Patients.

Aminoglycoside-induced hearing loss in HIV-positive and HIV-negative multidrug-resistant tuberculosis patients.

Aminoglycoside-induced hearing loss: South Africans at risk.

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q ⬇️

An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome.

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

Antioxidant effects of curcumin in models of neurodegeneration, aging, oxidative and nitrosative stress: A review

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease

Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

Clinical findings and genetic screening for copy number variation mutations in a cohort of South African patients with Parkinson's disease

Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death.

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

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa

Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease

Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1

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

Factors influencing the development of early- or late-onset Parkinson's disease in a cohort of South African patients

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease

Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings

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

Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients

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

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

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

LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Mitochondrial impairment observed in fibroblasts from South African Parkinson's disease patients with parkin mutations.

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population

Neurodegenerative disorders: dysregulation of a carefully maintained balance?

Novel LRRK2 mutations in Parkinsonism

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools

Rutin as a Potent Antioxidant: Implications for Neurodegenerative Disorders.

Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease

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

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients

The Frequency of the H402 Allele of CFH and Its Involvement with Age-Related Maculopathy in an Aged Black African Xhosa Population

The broad-host-range plasmid pTF-FC2 requires a primase-like protein for autonomous replication in Escherichia coli ⬇️

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

The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects

Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.

Wild-type and mutant (G2019S) leucine-rich repeat kinase 2 (LRRK2) associate with subunits of the translocase of outer mitochondrial membrane (TOM) complex

eVOC: a controlled vocabulary for unifying gene expression data