Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
Emer O'ConnorJana VandrovcovaEnrico BugiardiniViorica ChelbanAndreea ManoleIndran DavagnanamSarah WiethoffAlan PittmanDavid S LynchStephanie EfthymiouSilvia MarinoAdnan Y ManzurMark RobertsMichael G HannaHenry HouldenEmma MatthewsNicholas W WoodPublished in: Journal of neurology, neurosurgery, and psychiatry (2018)