De novo and dominantly inherited SPTAN1 mutations cause spastic paraplegia and cerebellar ataxia

Bron
2022,
Auteur(s)
    Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot‐Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W. Rattay, María‐Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Bron
2022,
Auteur(s)
    Matthew J. Jennings, Alexia Kagiava, Leen Vendredy, Emily L. Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, Vicky De Winter, Burkhard Gess, Ulrike Schara, Oksana Pogoryelova, Hanns Lochmüller, Christoph H. Borchers, Andreas Roos, Robert W. Burgess, Vincent Timmerman, Kleopas A. Kleopa, Rita Horvath