Found: 4

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  • Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 951, doi. 10.1002/acn3.51335
    By:
    • Dzinovic, Ivana;
    • Škorvánek, Matej;
    • Pavelekova, Petra;
    • Zhao, Chen;
    • Keren, Boris;
    • Whalen, Sandra;
    • Bakhtiari, Somayeh;
    • Chih Jin, Sheng;
    • Kruer, Michael C.;
    • Jech, Robert;
    • Winkelmann, Juliane;
    • Zech, Michael
    Publication type:
    Article

  • Prevalence of Fabry Disease among Patients with Parkinson's Disease.

    Published in:
    Parkinson's Disease (20420080), 2022, p. 1, doi. 10.1155/2022/1014950
    By:
    • Lackova, Alexandra;
    • Beetz, Christian;
    • Oppermann, Sebastian;
    • Bauer, Peter;
    • Pavelekova, Petra;
    • Lorincova, Tatiana;
    • Ostrozovicova, Miriam;
    • Kulcsarova, Kristina;
    • Cobejova, Jana;
    • Cobej, Martin;
    • Levicka, Petra;
    • Liesenerova, Simona;
    • Sendekova, Daniela;
    • Sukovska, Viktoria;
    • Gdovinova, Zuzana;
    • Han, Vladimir;
    • Rizig, Mie;
    • Houlden, Henry;
    • Skorvanek, Matej
    Publication type:
    Article

  • De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
    By:
    • Brunet, Theresa;
    • Jech, Robert;
    • Brugger, Melanie;
    • Kovacs, Reka;
    • Alhaddad, Bader;
    • Leszinski, Gloria;
    • Riedhammer, Korbinian M.;
    • Westphal, Dominik S.;
    • Mahle, Isabella;
    • Mayerhanser, Katharina;
    • Skorvanek, Matej;
    • Weber, Sandrina;
    • Graf, Elisabeth;
    • Berutti, Riccardo;
    • Necpál, Ján;
    • Havránková, Petra;
    • Pavelekova, Petra;
    • Hempel, Maja;
    • Kotzaeridou, Urania;
    • Hoffmann, Georg F.
    Publication type:
    Article

  • A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia.

    Published in:
    Movement Disorders, 2021, v. 36, n. 8, p. 1984, doi. 10.1002/mds.28647
    By:
    • Ostrozovicova, Miriama;
    • Jech, Robert;
    • Steel, Dora;
    • Pavelekova, Petra;
    • Han, Vladimir;
    • Gdovinova, Zuzana;
    • Lichtner, Peter;
    • Kurian, Manju A.;
    • Wiethoff, Sarah;
    • Houlden, Henry;
    • Havránková, Petra;
    • Winkelmann, Julianne;
    • Zech, Michael;
    • Skorvanek, Matej
    Publication type:
    Article