KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Klebe, Stephan, Lossos, Alexander, Azzedine, Hamid, Mundwiller, Emeline, Sheffer, Ruth, Gaussen, Marion, Marelli, Cecilia, Nawara, Magdalena, Carpentier, Wassila, Meyer, Vincent, Rastetter, Agnès, Martin, Elodie, Bouteiller, Delphine, Orlando, Laurent, Gyapay, Gabor, El-Hachimi, Khalid H, Zimmerman, Batel, Gamliel, Moriya, Misk, Adel, Lerer, Israela, Brice, Alexis, Durr, Alexandra, Stevanin, Giovanni
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group 2012
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355258/
https://ncbi.nlm.nih.gov/pubmed/22258533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.261
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