The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

BACKGROUND: The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires an understanding of the mechanism by which mutations confer pathogenicity. SPG8...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Orphanet J Rare Dis
Egile Nagusiak: Jahic, Amir, Khundadze, Mukhran, Jaenisch, Nadine, Schüle, Rebecca, Klimpe, Sven, Klebe, Stephan, Frahm, Christiane, Kassubek, Jan, Stevanin, Giovanni, Schöls, Ludger, Brice, Alexis, Hübner, Christian A., Beetz, Christian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2015
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4647479/
https://ncbi.nlm.nih.gov/pubmed/26572744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0359-x
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