Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
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DOI: 10.1002/ana.25220
Abstract: To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. read more here.
Keywords: mutations vps13d; new recessive; ataxia; lead new ... See more keywords