ARX spectrum disorders: making inroads into the molecular pathology
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21288/fullpdf
Reference107 articles.
1. A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder;Absoud;Dev Med Child Neurol Sept,2009
2. Deletion of ultraconserved elements yields viable mice;Ahituv;PLoS Biol,2007
3. The other trinucleotide repeat: polyalanine expansion disorders;Albrecht;Curr Opin Genet Dev,2005
4. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions;Albrecht;Hum Mol Genet,2004
5. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome;Bachetti;Hum Mol Genet,2005
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