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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha: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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