Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation
Abstract Background Hereditary spastic paraplegia (HSP) is a rare genetically heterogeneous neurodegenerative disorder. The most common type of HSP is caused by pathogenic variants in the SPAST gene. Various hypotheses regarding the pathogenic mechanisms of HSP-SPAST have been proposed. However, a s...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2024-09-01
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| Schriftenreihe: | Journal of Translational Medicine |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12967-024-05669-8 |
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