Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 4

Results: 7
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    Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.

    Published in:
    Neurogenetics, 2022, v. 23, n. 4, p. 257, doi. 10.1007/s10048-022-00696-3
    By:
    • Maalej, Marwa;
    • Sfaihi, Lamia;
    • Ammar, Marwa;
    • Frikha, Fakher;
    • Kharrat, Marwa;
    • Alila-Fersi, Olfa;
    • Mkaouar-Rebai, Emna;
    • Tlili, Abdelaziz;
    • Kammoun, Thouraya;
    • Fakhfakh, Faiza
    Publication type:
    Article
    7

    Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET.

    Published in:
    Neurogenetics, 2022, v. 23, n. 4, p. 241, doi. 10.1007/s10048-022-00695-4
    By:
    • Hocquel, Armand;
    • Ravel, Jean-Marie;
    • Lambert, Laetitia;
    • Bonnet, Céline;
    • Banneau, Guillaume;
    • Kol, Bophara;
    • Tissier, Laurène;
    • Hopes, Lucie;
    • Meyer, Mylène;
    • Dillier, Céline;
    • Michaud, Maud;
    • Lardin, Arnaud;
    • Kaminsky, Anne-Laure;
    • Schmitt, Emmanuelle;
    • Liao, Liang;
    • Zhu, François;
    • Myriam, Bronner;
    • Bossenmeyer-Pourié, Carine;
    • Verger, Antoine;
    • Renaud, Mathilde
    Publication type:
    Article