Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/132/8/2170/16696146/awp152.pdf
Reference33 articles.
1. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications;Aartsma-Rus;RNA,2007
2. Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments;Babady;Mol Genet Metab,2007
3. Selective iron chelation in Friedreich ataxia: biologic and clinical implications;Boddaert;Blood,2007
4. Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens;Bookelman;Biochem Med,1978
5. Influence of RNA secondary structure on the pre-mRNA splicing process;Buratti;Mol Cell Biol,2004
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