Found: 2

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  • Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

    Published in:
    Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
    By:
    • D'Onofrio, Gianluca;
    • Accogli, Andrea;
    • Severino, Mariasavina;
    • Caliskan, Haluk;
    • Kokotović, Tomislav;
    • Blazekovic, Antonela;
    • Jercic, Kristina Gotovac;
    • Markovic, Silvana;
    • Zigman, Tamara;
    • Goran, Krnjak;
    • Barišić, Nina;
    • Duranovic, Vlasta;
    • Ban, Ana;
    • Borovecki, Fran;
    • Ramadža, Danijela Petković;
    • Barić, Ivo;
    • Fazeli, Walid;
    • Herkenrath, Peter;
    • Marini, Carla;
    • Vittorini, Roberta
    Publication type:
    Article

  • Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1579, doi. 10.1002/acn3.52075
    By:
    • Parvizi, Tandis;
    • Klotz, Sigrid;
    • Keritam, Omar;
    • Caliskan, Haluk;
    • Imhof, Sophie;
    • König, Theresa;
    • Haider, Lukas;
    • Traub‐Weidinger, Tatjana;
    • Wagner, Matias;
    • Brunet, Theresa;
    • Brugger, Melanie;
    • Zimprich, Alexander;
    • Rath, Jakob;
    • Stögmann, Elisabeth;
    • Gelpi, Ellen;
    • Cetin, Hakan
    Publication type:
    Article