Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22.

¹ Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
² Department of Brain Repair and Rehabilitation, Institute of Neurology, University College London, London, UK.
³ Department of Neuropathology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
⁴ Department of Neurology, Great Ormond Street Hospital for Children, London, UK.
⁵ Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
⁶ Medical Research Council Center for Neuromuscular Diseases, University College London and National Hospital for Neurology and Neurosurgery, London, UK.
⁷ Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, UK.

No abstract available

Keywords: cerebellar ataxia; cerebellar degeneration; genetics; neurogenetics; neuropathy.

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