Found: 3

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  • A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

    Published in:
    2016
    By:
    • Helbig, Katherine L.;
    • Hedrich, Ulrike B.S.;
    • Shinde, Deepali N.;
    • Krey, Ilona;
    • Teichmann, Anne‐Christin;
    • Hentschel, Julia;
    • Schubert, Julian;
    • Chamberlin, Adam C.;
    • Huether, Robert;
    • Lu, Hsiao‐Mei;
    • Alcaraz, Wendy A.;
    • Tang, Sha;
    • Jungbluth, Chelsy;
    • Dugan, Sarah L.;
    • Vainionpää, Leena;
    • Karle, Kathrin N.;
    • Synofzik, Matthis;
    • Schöls, Ludger;
    • Schüle, Rebecca;
    • Lehesjoki, Anna‐Elina
    Publication type:
    journal article

  • Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article

  • Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

    Published in:
    Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17604-2
    By:
    • Körner, Marek B.;
    • Velluva, Akhil;
    • Bundalian, Linnaeus;
    • Radtke, Maximilian;
    • Lin, Chen-Ching;
    • Zacher, Pia;
    • Bartolomaeus, Tobias;
    • Kirstein, Anna S.;
    • Mrestani, Achmed;
    • Scholz, Nicole;
    • Platzer, Konrad;
    • Teichmann, Anne-Christin;
    • Hentschel, Julia;
    • Langenhan, Tobias;
    • Lemke, Johannes R.;
    • Garten, Antje;
    • Abou Jamra, Rami;
    • Le Duc, Diana
    Publication type:
    Article