Title: | EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia |
Journal : | Nature communications, 5 |
Authors: | Boczonadi V ; Müller JS ; Pyle A ; Munkley J ; Dor T ; Quartararo J ; Ferrero I ; Karcagi V ; Giunta M ; Polvikoski T ; Birchall D ; Princzinger A ; Cinnamon Y ; Lutzkendorf S ; Piko H ; Reza M ; Florez L ; Santibanez-Koref M ; Griffin H ; Schuelke M ; Elpeleg O ; Kalaydjieva L ; Lochmuller H ; Elliott DJ ; Chinnery PF ; Edvardson S ; Horvath R |
Material Type: | Article |
Publication Date: | 2014 |
Languages: | English |
Keywords : | cerebellar cortex ; exon ; genetic mutations ; messenger RNA ; metabolic diseases ; methylation ; neurodegenerative diseases ; spinal muscular atrophy |
Pubmed / DOI : | DOI : 10.1038/ncomms5287 / Pubmed : 24989451 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24989451 |
See also : |