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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 Brusco
- Yale University
- Washington University School of Medicine
- McGill University
- University Medical Center Utrecht
- Indiana University of Pennsylvania
- Geneva University Hospital
- Johns Hopkins University
- Tor Vergata University Hospital
- The Children's Hospital, Aurora
- Radboud University Medical Center
- National Health Research Institutes Taiwan (NHRI)
- University of Tennessee
- Children's Hospital of Eastern Ontario
- Arnold Palmer Hospital for Children and Women
- University of Florence
- Sapienza University of Rome
- Charles University in Prague
- Universitätsklinikum Düsseldorf
- Nemours Alfred I. duPont Hospital for Children
- General University Hospital in Prague
- University of Montreal
- Centre Hospitalier Universitaire Sainte-Justine
Research output: Contribution to journal › Article › peer-review