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 Lefeber, Marco Tartaglia, Fadi F Hamdan, Kariona A Grabińska, Vincenzo Leuzzi

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Neuroscience

Biochemistry, Genetics and Molecular Biology