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Friedreich ataxia 1
- ... spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia 1 Friedreich ataxia National Organization for Rare Disorders (NORD) ...
- ... axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: Ataxia - oculomotor apraxia type 4 Genetic Testing Registry: Ataxia ...
- ... 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- ...
- ... deficiency AVED Familial isolated vitamin E deficiency FIVE Friedreich ataxia phenotype with selective vitamin E deficiency Friedreich-like ataxia Genetic Testing Registry: Familial isolated deficiency of vitamin ...
- ... Harino S, Kiyosawa M, Mizusawa H, Inoue K. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation ...