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

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To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. Click to show full abstract

To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia.

Keywords: mutations vps13d; new recessive; ataxia; lead new; recessive ataxia; vps13d lead

Journal Title: Annals of Neurology
Year Published: 2018

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