Found: 4

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  • Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 2, p. 330, doi. 10.1002/ana.26544
    By:
    • Harrer, Philip;
    • Schalk, Audrey;
    • Shimura, Masaru;
    • Baer, Sarah;
    • Calmels, Nadège;
    • Spitz, Marie Aude;
    • Warde, Marie‐Thérèse Abi;
    • Schaefer, Elise;
    • Kittke, Volker M.Sc;
    • Dincer, Yasemin;
    • Wagner, Matias;
    • Dzinovic, Ivana;
    • Berutti, Riccardo;
    • Sato, Tatsuharu;
    • Shirakawa, Toshihiko;
    • Okazaki, Yasushi;
    • Murayama, Kei;
    • Oexle, Konrad;
    • Prokisch, Holger;
    • Mall, Volker
    Publication type:
    Article

  • Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders.

    Published in:
    Movement Disorders, 2024, v. 39, n. 7, p. 1237, doi. 10.1002/mds.29797
    By:
    • Indelicato, Elisabetta;
    • Romito, Luigi Michele;
    • Harrer, Philip;
    • Golfrè Andreasi, Nico;
    • Colangelo, Isabel;
    • Kopajtich, Robert;
    • Winkelmann, Juliane;
    • Prokisch, Holger;
    • Garavaglia, Barbara;
    • Zech, Michael
    Publication type:
    Article

  • Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

    Published in:
    Movement Disorders, 2023, v. 38, n. 10, p. 1914, doi. 10.1002/mds.29562
    By:
    • Harrer, Philip;
    • Škorvánek, Matej;
    • Kittke, Volker;
    • Dzinovic, Ivana;
    • Borngräber, Friederike;
    • Thomsen, Mirja;
    • Mandel, Vanessa;
    • Svorenova, Tatiana;
    • Ostrozovicova, Miriam;
    • Kulcsarova, Kristina;
    • Berutti, Riccardo;
    • Busch, Hauke;
    • Ott, Fabian;
    • Kopajtich, Robert;
    • Prokisch, Holger;
    • Kumar, Kishore R.;
    • Mencacci, Niccolo E.;
    • Kurian, Manju A.;
    • Di Fonzo, Alessio;
    • Boesch, Sylvia
    Publication type:
    Article

  • Epigenetic Association Analyses and Risk Prediction of RLS.

    Published in:
    Movement Disorders, 2023, v. 38, n. 8, p. 1410, doi. 10.1002/mds.29440
    By:
    • Harrer, Philip;
    • Mirza‐Schreiber, Nazanin;
    • Mandel, Vanessa;
    • Roeber, Sigrun;
    • Stefani, Ambra;
    • Naher, Shamsun;
    • Wagner, Matias;
    • Gieger, Christian;
    • Waldenberger, Melanie;
    • Peters, Annette;
    • Högl, Birgit;
    • Herms, Jochen;
    • Schormair, Barbara;
    • Zhao, Chen;
    • Winkelmann, Juliane;
    • Oexle, Konrad
    Publication type:
    Article