Tuesday, March 31, 2015

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia. Maria R. Stefanescu , Moritz Dohnalek , Stefan Maderwald , Markus Thürling , Martina Minnerop , Andreas Beck , Marc Schlamann , Joern Diedrichsen , Mark E. Ladd , Dagmar Timmann
Brain. 2015 Mar 28, DOI: http://dx.doi.org/10.1093/brain/awv064 First published online: 28 March 2015

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells. Ana M. Silva, Jill M. Brown, Veronica J. Buckle, Richard Wade-Martins and Michele M.P. Lufino; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv096 First published online: March 26, 2015