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.; et al. (Annals of neurology, 2018)
Keywords: Adult; Ataxia; Axons; Cerebellar Ataxia - genetics; Chromosome 1; Disorders; Drosophila; Female; Fibroblasts; Genetic Linkage; Humans; Insects; Intellectual Disability - genetics; International cooperation; Male; Middle Aged; Missense mutation; Mitochondria; Mitochondria - genetics; Mitochondrial DNA; Morphology; Movement disorders; Muscle Spasticity - genetics; Mutation; Mutation - genetics; Neurological diseases; Optic Atrophy - genetics; Paralysis; Patients; Pedigree; Proteins - genetics; Sequences; Spastic paraplegia; Spastic Paraplegia, Hereditary - genetics; Spasticity; Spinocerebellar ataxia; Spinocerebellar Ataxias - genetics