| Identifier |
20140304_nanos_posters_230 |
| Title |
DNMT1 mutations are associated with a complex phenotype including optic atrophy, deafness, narcolepsy with cataplexy and peripheral neuropathy |
| Creator |
Morgia, Chiara La; Moghmadam, Keivan K; Pizza, Fabio; Barboni, Piero; Seri, Marco; Ferrari, Simona; Liguori, Rocco; Donadio, Vincenzo; Winkelmann, Juliane; Lin, Ling; Mignot, Emanuel; Carelli, Valerio; Plazzi, Giuseppe |
| Subject |
DNA Methylation Patterns; DNMT1 Mutation; Autosomal Dominant Neurodegenerative Disease; Autosomal Dominant Cerebellar Ataxia |
| Description |
DNMT1 is a DNAmethyltransferase involved in maintenance of DNA methylation patterns. DNMT1 mutations have been linked to two distinct autosomal dominant neurodegenerative diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCADN). |
| Date |
2014-03-04 |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
application/pdf |
| Type |
Text |
| Source |
2014 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2014: Poster Presentations |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2013. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6gf418v |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
184143 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6gf418v |
