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Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/dynactin motor complex, which in axons drives the microtubule-dependent retrograde transp...
Salvato in:
| Pubblicato in: | Acta Neuropathol Commun |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7076953/ https://ncbi.nlm.nih.gov/pubmed/32183910 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-00909-6 |
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