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Analysis of copy number variation and disease mechanisms underlying Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH ABSTRACT : Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Although the aetiology of PD is still not fully ... -
Functional characterization of sequence variants in leucine-rich repeat kinase 2 (LRRK2) and its possible interaction with the translocase of outer mitochondrial membrane (TOM) protein complex
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Parkinson’s disease (PD) is an incurable neurodegenerative disorder, characterized by the progressive loss of dopaminergic neurons in the midbrain of affected individuals. Both environmental and genetic ... -
Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH SUMMARY: Parkinson’s disease (PD) is a progressive and severely debilitating neurodegenerative disorder that is characterised by a range of motor symptoms and the selective loss of dopaminergic neurons in the ... -
Identification of parkin interactions: implications for Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2015-12)ENGLISH ABSTRACT: Parkinson’s disease (PD) is a progressive and debilitating neurodegenerative disorder, characterized by a distinct motor phenotype and the selective loss of dopaminergic neurons in the substantia nigra. ... -
An investigation into the molecular aetiology of Parkinson's disease in South African patients
(Stellenbosch : Stellenbosch University, 2013-03)ENGLISH ABSTRACT: Parkinson's disease (PD) is a severely debilitating neurodegenerative disorder that results in motor circuit dysregulation and ultimately, causes impairment of movement. This condition is due to the ... -
An investigation into the role of mitochondrial dysfunction in South African Parkinson’s disease patients
(Stellenbosch : Stellenbosch University, 2012-12)ENGLISH ABSTRACT: Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Although the aetiology of PD is still not fully ... -
Investigation of differential gene expression in Parkinson's disease patients: A whole transcriptome approach
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Parkinson’s disease (PD) is the most common neurodegenerative movement disorder and is characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta. Dopaminergic neuronal loss ... -
Investigation of the genetic aetiology of aminoglycoside-induced hearing loss in South African populations
(Stellenbosch : University of Stellenbosch, 2009-12)ENGLISH ABSTRACT: South Africa is currently facing a major multidrug-resistant tuberculosis (MDR-TB) epidemic and has one of the highest incidences in the world. Aminoglycoside antibiotics are commonly used in this country ... -
Screening for disease-causing genes in black South African patients with Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2015-04)ENGLISH ABSTRACT: Please see fulltext for abstract