Works by Lundberg, Julie

Results: 2
    1

    Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111
    By:
    • Hengel, Holger;
    • Hannan, Shabab B;
    • Reich, Selina;
    • Beijer, Danique;
    • Roller, Johanna;
    • Gilsbach, Bernd K;
    • Gloeckner, Christian Johannes;
    • Greene, Daniel;
    • Timmann, Dagmar;
    • Depienne, Christel;
    • Mumford, Andrew;
    • O'Driscoll, Mary;
    • Nemeth, Andrea H;
    • Lundberg, Julie;
    • Rodan, Lance H;
    • Bruel, Ange-Line;
    • Delanne, Julian;
    • Deconinck, Tine;
    • Baets, Jonathan;
    • Gan-Or, Ziv
    Publication type:
    Article
    2

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

    Published in:
    Neurogenetics, 2016, v. 17, n. 1, p. 43, doi. 10.1007/s10048-015-0466-9
    By:
    • Shang, Linshan;
    • Henderson, Lindsay;
    • Cho, Megan;
    • Petrey, Donald;
    • Fong, Chin-To;
    • Haude, Katrina;
    • Shur, Natasha;
    • Lundberg, Julie;
    • Hauser, Natalie;
    • Carmichael, Jason;
    • Innis, Jeffrey;
    • Schuette, Jane;
    • Wu, Yvonne;
    • Asaikar, Shailesh;
    • Pearson, Margaret;
    • Folk, Leandra;
    • Retterer, Kyle;
    • Monaghan, Kristin;
    • Chung, Wendy
    Publication type:
    Article