Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong, Ryan Insolera, Marija Dulovic, Erik Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z. Li, Tamison Jewett, Anneke J.A. Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine A. Collins, Katja Lohmann, Bart P. van de Warrenburg, Margit Burmeister

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Medicine & Life Sciences