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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Research
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker