Next Generation Sequencing results in an Italian cohort of hereditary optic neuropathies patients

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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
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.
Relation is Part of NANOS Annual Meeting 2018: Scientific Platform, Session I
Contributor Primary Chiara La Morgia
Contributor Secondary 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
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2018-04
Format video/mp4
Source 2018 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s67x0fmf
Setname ehsl_novel_nam
Date Created 2018-04-25
Date Modified 2018-04-25
ID 1316060
Reference URL https://collections.lib.utah.edu/ark:/87278/s67x0fmf
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