Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
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Jun Z. Li | Catherine A. Collins | N. Brüggemann | K. Lohmann | Ryan Insolera | M. Burmeister | A. Münchau | V. Shakkottai | C. Klein | E. Kamsteeg | J. Trinh | E. Sandford | T. Jewett | A. B. Ozel | Sheng Li | E. Seong | A. Kievit | M. Dulović | B. V. D. van de Warrenburg | C. Collins