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Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients

17 May 2018

Abstract excerpt

Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal models or small patient series. However, transcriptional changes induced by FRDA in peripheral blood, a readily accessible tissue, have not been characterized in a...

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PMID: 29790959
DOI: 10.1093/hmg/ddy198

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