De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Serena Galosi, Ban H. Edani, Simone Martinelli, Hana Hansikova, Erik A. Eklund, Caterina Caputi, Laura Masuelli, Nicole Corsten-Janssen, Myriam Srour, Renske Oegema, Daniëlle G.M. Bosch, Colin A. Ellis, Louise Amlie-Wolf, Andrea Accogli, Isis Atallah, Luisa Averdunk, Kristin W. Barañano, Roberto Bei, Irene Bagnasco, Alfredo BruscoScott Demarest, Anne Sophie Alaix, Carlo Di Bonaventura, Felix Distelmaier, Frances Elmslie, Ziv Gan-Or, Jean Marc Good, Karen Gripp, Erik Jan Kamsteeg, Ellen MacNamara, Carlo Marcelis, Noëlle Mercier, Joseph Peeden, Simone Pizzi, Luca Pannone, Marwan Shinawi, Camilo Toro, Nienke E. Verbeek, Sunita Venkateswaran, Patricia G. Wheeler, Lucie Zdrazilova, Rong Zhang, Giovanna Zorzi, Renzo Guerrini, William C. Sessa, Dirk J. Lefeber, Marco Tartaglia, Fadi F. Hamdan, Kariona A. Grabińska, Vincenzo Leuzzi

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