Search Results - "Courtney, Natalie L."
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Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Published in Annals of clinical and translational neurology (01-08-2019)“…Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially…”
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Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
Published in Human molecular genetics (15-08-2018)“…Abstract Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival…”
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Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy
Published in Cell death & disease (04-07-2019)“…Spinal Muscular Atrophy (SMA) is a childhood motor neuron disease caused by mutations or deletions within the SMN1 gene. At endstages of disease there is…”
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Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy
Published in Acta neuropathologica communications (15-09-2015)“…The term motor neuron disease encompasses a spectrum of disorders in which motor neurons are the lost. Importantly, while some motor neurons are lost early in…”
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Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn2b/- mouse model of spinal muscular atrophy
Published in Acta neuropathologica communications (15-09-2015)“…Introduction The term motor neuron disease encompasses a spectrum of disorders in which motor neurons are the lost. Importantly, while some motor neurons are…”
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