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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and ex...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2014
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3928657/ https://ncbi.nlm.nih.gov/pubmed/24388663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.005 |
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