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- W2097301466 abstract "Understanding the events that are responsible for a disease is mandatory for setting up a therapeutic strategy. Although spinal muscular atrophy (SMA) is considered a rare neurodegenerative pathology, its impact in our society is really devastating as it strikes young people from birth onward, and it affects their families either emotionally or financially. Moreover, it requires intensive care for the children, and this diverts both parents and relatives from their occupations. Each neuron is very different from one another; therefore, in a neurodegenerative disease, the population of axons, synapses and cell bodies degenerate asynchronously, and subpopulations of neurons have different vulnerabilities. The knowledge of the sequence of events along the lengths of individual neurons is crucial to understand if each synapse degenerates before the corresponding axon, or if each axon degenerates before the corresponding cell body. Early degeneration of one neuronal compartment in disease often reflects molecular defects somewhere else. Up until now, SMA is considered mostly a lower motor neuron disease caused by the loss-of-function mutations in the SMN1 gene; here, we inspect other features that can be altered by this defect, such as the cross talk between muscle and motor neuron and the role of physical inactivity." @default.
- W2097301466 created "2016-06-24" @default.
- W2097301466 creator A5069765619 @default.
- W2097301466 creator A5084567168 @default.
- W2097301466 date "2013-06-28" @default.
- W2097301466 modified "2023-09-27" @default.
- W2097301466 title "Spinal Muscular Atrophy: New Findings for an Old Pathology" @default.
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- W2097301466 doi "https://doi.org/10.1111/bpa.12071" @default.
- W2097301466 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8029454" @default.
- W2097301466 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23750936" @default.
- W2097301466 hasPublicationYear "2013" @default.
- W2097301466 type Work @default.