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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Autors principals: Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Accés en línia: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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