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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

OBJECTIVE: Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia alon...

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Autors principals: Renvoisé, Benoît, Chang, Jaerak, Singh, Rajat, Yonekawa, Sayuri, FitzGibbon, Edmond J, Mankodi, Ami, Vanderver, Adeline, Schindler, Alice B, Toro, Camilo, Gahl, William A, Mahuran, Don J, Blackstone, Craig, Pierson, Tyler Mark
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4078876/
https://ncbi.nlm.nih.gov/pubmed/24999486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.64
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