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

Source
Movement disorders: video, videotape supplements - ISSN 0885-3185-37:6 (2022) p. 1175-1186
Author(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

Source
Brain - ISSN 0006-8950- (2022) p. 1-31
Author(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

Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles

Source
Cell communication and signaling - ISSN 1478-811X-20:1 (2022) p. 1-19
Author(s)

Genetic pain loss disorders

Source
Nature reviews disease primers - ISSN 2056-676X-8:1 (2022) p. 1-23
Author(s)
    Annette Lischka, Petra Lassuthova, Arman Çakar, Christopher J. Record, Jonas Van Lent, Jonathan Baets, Maike F. Dohrn, Jan Senderek, Angelika Lampert, David L. Bennett, John N. Wood, Vincent Timmerman, Thorsten Hornemann, Michaela Auer-Grumbach, Yesim Parman, Christian A. Hübner, Miriam Elbracht, Katja Eggermann, C. Geoffrey Woods, James J. Cox, Mary M. Reilly, Ingo Kurth