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Friedreich ataxia 1
- ... PubMed Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol. 2009 Mar;256 Suppl 1:9-17. doi: 10.1007/s00415-009-1003- ...
- ... Harino S, Kiyosawa M, Mizusawa H, Inoue K. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation ...