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All Outputs (3)

Characterising the molecular consequences of LMNA mutations in congenital muscular dystrophy (2023)
Thesis
Storey, E. C. (2023). Characterising the molecular consequences of LMNA mutations in congenital muscular dystrophy. (Thesis). Keele University. Retrieved from https://keele-repository.worktribe.com/output/674333

LMNA-related congenital muscular dystrophy (L-CMD) is a rare disorder predominantly causing muscle weakness and wasting, over time, leading to development of dysphagia and life-threating respiratory insufficiency, and sometimes cardiac arrhythmias. T... Read More about Characterising the molecular consequences of LMNA mutations in congenital muscular dystrophy.

Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways (2020)
Thesis
Šoltić, D. (2020). Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways. (Thesis). Keele University

Spinal muscular atrophy (SMA) is a debilitating genetic disorder, characterised by homozygous loss of the survival of motor neuron 1 (SMN1) gene, resulting in insufficient levels of ubiquitously expressed survival of motor neuron (SMN) protein. The t... Read More about Proteomics-based identification and characterisation of spinal muscular atrophy disease pathways.

Effects of ageing on the vulnerability of the substantia nigra pars compacta dopaminergic neurons: implications in Parkinson’s disease (2020)
Thesis
Gómez Gálvez, Y. (2020). Effects of ageing on the vulnerability of the substantia nigra pars compacta dopaminergic neurons: implications in Parkinson’s disease. (Thesis). Keele University

The degeneration of dopaminergic neurons (DAn) in the midbrain substantia nigra pars compacta (SNpc) is a definitive feature of Parkinson's disease (PD). Although age has been established as one of the main risk factors, the role that ageing has in t... Read More about Effects of ageing on the vulnerability of the substantia nigra pars compacta dopaminergic neurons: implications in Parkinson’s disease.