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    • Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects 
      Seong, Eunju; Insolera, Ryan; Dulovic, Marija; Kamsteeg, Erik‐jan; Trinh, Joanne; Brüggemann, Norbert; Sandford, Erin; Li, Sheng; Ozel, Ayse Bilge; Li, Jun Z.; Jewett, Tamison; Kievit, Anneke J. A.; Münchau, Alexander; Shakkottai, Vikram; Klein, Christine; Collins, Catherine A.; Lohmann, Katja; Warrenburg, Bart P.; Burmeister, Margit (Wiley Periodicals, Inc., 2018-06)
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