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

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·2015·Orphanet Journal of Rare Diseases
DOI 10.1186/s13023-015-0359-xPMC PMC4647479
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Metadata

Authors
Jahic, A., Khundadze, M., Jaenisch, N., Schüle, R., Klimpe, S., Klebe, S., Frahm, C., Kassubek, J., Stevanin, G., Schöls, L., Brice, A., Hübner, C. A., & Beetz, C.
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2015-11-16
Volume
10
Issue
1
ISSN
1750-1172
DOI
10.1186/s13023-015-0359-x
PMC
PMC4647479
Cited by
17
References
1
Language
en
Funders
  • German Society of Clinical Chemistry (NA2014)
  • IZKF Jena (RS2012)
  • Gentechnologiestiftung (n.a.)
  • IZKF Tübingen (1970-0-0)
  • European Union (FP7-E112009DD, FP7-E04006DD, FP7-2012-305121, PIOF-GA-2012-326681, and 01GM1408B)
  • Investissements d’avenir (ANR-10-IAIHU-06)
  • Fondation Roger de Spoelberch (R12123DD)
  • German HSP patient organisation (n.a.)

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