ARX spectrum disorders: making inroads into the molecular pathology

Author:

Shoubridge Cheryl,Fullston Tod,Gécz Jozef

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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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