| 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 |
Chiara La Morgia; Keivan K Moghmadam; Fabio Pizza; Piero Barboni; Marco Seri; Simona Ferrari; Rocco Liguori; Vincenzo Donadio; Juliane Winkelmann; Ling Lin; Emanuel Mignot; Valerio Carelli; Giuseppe Plazzi |
| Affiliation |
(CLM) (KKM) (FP) (RL) (VD) (VC) (GP) Department of Biomedical and Neuromotor Sciences (DIBINEM), Bologna, Italy; (CLM) (FP) (RL) (VD) (VC) (GP) IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; (PB) Istituto Scientifico San Raffaele, Milano, Italy; (SF) Medical Genetics Unit, Department of Medical and Surgical Sciences (DIMEC) Bologna, Italy; (JW) Institute of Human Genetics and Department of Neurology, Technische Universitat Munich, Germany; (JW) (LL) (EM) Center for Sleep Sciences and Medicine, Stanford University Palo Alto, CA |
| 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 |
| 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: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| 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 |
