Next Generation Sequencing results in an Italian cohort of hereditary optic neuropathies patients
| Identifier | 20180305_nanos_sciplatform1_03 |
| Title | Next Generation Sequencing results in an Italian cohort of hereditary optic neuropathies patients |
| Creator | Chiara La Morgia; Francesca Tagliavini; Leonardo Caporali; Michele Carbonelli; Lidia Di Vito; Piero Barboni; Maria Lucia Cascavilla; Arturo Carta; Alessandra Rufa; Stefania Bianchi Marzoli; Francesco Mari; Michelangelo Mancuso; Maria Alice Donati; Anna Maria De Negri; Federico Sadun; Maria Lucia Valentino; Rocco Liguori; Valerio Carelli |
| Affiliation | (CL) (MLV) (RL) (VC) IRCCS Institute of Neurological Sciences of Bologna; DIBINEM, University of Bologna, Bologna, Italy; (FT) (LC) (MC) (LD) IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; (PB) IRCCS San Raffaele Institute, Milan; Studio Oculistico D'Azeglio, Bologna, Italy, Milan; Bologna, Italy; (LC) IRCCS San Raffaele Institute, Milan, Milan, Italy; (AC) Department of Ophthalmology, University of Parma, Parma, Italy; (AR) Department of Medical Sciences, Surgery and Neuroscience, University of Siena, Siena, Italy; (SBM) IRCCS Auxologic Institute, Department of Ophthalmology, Milan, Italy; (FM) Meyer Children's Hospital, University of Florence, Florence, Italy, Florence, Italy; (MM) Neuroscience Department, University of Pisa, Pisa, Italy; (MAD) Neuroscience Department, Meyer Children's Hospital, Florence, Italy, Florence, Italy; (AMD) San Camillo-Forlanini Hospital, Department of Ophthalmology, Rome, Italy; (FS) Department of Ophthalmology, Ospedale Parodi Delfino, Colleferro, Rome, Italy |
| Subject | Optic Neuropathy |
| Description | Hereditary optic neuropathies (HON) have common pathophysiologic mechanisms involving mitochondrial dysfunction. Known causative mutations are reported in mitochondrial DNA genes (i.e. LHON) but also in nuclear-encoded genes with mitochondrial functions such as mitochondrial dynamics (i.e. OPA1). Next Generation Sequencing (NGS), by screening simultaneously several candidate genes, has become the main gold standard to discover molecular defects in rare hereditary diseases. We aimed at genetically screening consecutive HON patients negative for LHON and OPA1 mutations. |
| Date | 2018-04 |
| Language | eng |
| Format | video/mp4 |
| Type | Image/MovingImage |
| Source | 2018 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of | NANOS Annual Meeting 2018: Scientific Platform, Session I |
| 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 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK | ark:/87278/s67x0fmf |
| Setname | ehsl_novel_nam |
| ID | 1316060 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s67x0fmf |