Browsing by Author "Czech, Artur"

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  • Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)
    Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein ...
  • Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas (Wiley, 2021)
    Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, ...

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