Literature DB >> 23384603

Sensorineural hearing loss in OPA1-linked disorders.

Stéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, Estelle Colin, Martine Crochet, Vincent Procaccio, Marc Ferré, Julie Lamblin, Valérie Drouin, Catherine Vincent-Delorme, Guy Lenaers, Christian Hamel, Catherine Blanchet, Gitte Juul, Michael Larsen, Christophe Verny, Pascal Reynier, Patrizia Amati-Bonneau, Dominique Bonneau.   

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Year:  2013        PMID： 23384603     DOI： 10.1093/brain/aws340

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  9 in total

1.  SIRT3 deacetylates and activates OPA1 to regulate mitochondrial dynamics during stress.

Authors:  Sadhana A Samant; Hannah J Zhang; Zhigang Hong; Vinodkumar B Pillai; Nagalingam R Sundaresan; Donald Wolfgeher; Stephen L Archer; David C Chan; Mahesh P Gupta
Journal:  Mol Cell Biol       Date:  2013-12-16       Impact factor: 4.272

2.  Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.

Authors:  J L Loo; S Singhal; A V Rukmini; S Tow; P Amati-Bonneau; V Procaccio; D Bonneau; J J Gooley; P Reynier; M Ferré; D Milea
Journal:  Eye (Lond)       Date:  2016-11-18       Impact factor: 3.775

3.  Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

Authors:  Maria A Rocca; Stefania Bianchi-Marzoli; Roberta Messina; Maria Lucia Cascavilla; Massimo Zeviani; Costanza Lamperti; Jacopo Milesi; Arturo Carta; Gabriella Cammarata; Letizia Leocani; Eleonora Lamantea; Francesco Bandello; Giancarlo Comi; Andrea Falini; Massimo Filippi
Journal:  J Neurol       Date:  2015-03-21       Impact factor: 4.849

Review 4.  Disturbed mitochondrial dynamics and neurodegenerative disorders.

Authors:  Florence Burté; Valerio Carelli; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  Nat Rev Neurol       Date:  2014-12-09       Impact factor: 42.937

5.  Reply: Sensorineural hearing loss in OPA1-linked disorders.

Authors:  Patrick Yu-Wai-Man; Patrick F Chinnery
Journal:  Brain       Date:  2013-02-04       Impact factor: 13.501

6.  Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study.

Authors:  Kai Kanemoto; Akinori Kashio; Erika Ogata; Yusuke Akamatsu; Hajime Koyama; Tsukasa Uranaka; Yujiro Hoshi; Shinichi Iwasaki; Tatsuya Yamasoba
Journal:  Life (Basel)       Date:  2022-03-26

7.  OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Authors:  Rosamaria Santarelli; Roberta Rossi; Pietro Scimemi; Elona Cama; Maria Lucia Valentino; Chiara La Morgia; Leonardo Caporali; Rocco Liguori; Vincenzo Magnavita; Anna Monteleone; Ariella Biscaro; Edoardo Arslan; Valerio Carelli
Journal:  Brain       Date:  2015-01-05       Impact factor: 13.501

8.  Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy.

Authors:  Rosamaria Santarelli; Chiara La Morgia; Maria Lucia Valentino; Piero Barboni; Anna Monteleone; Pietro Scimemi; Valerio Carelli
Journal:  Front Neurosci       Date:  2019-05-28       Impact factor: 4.677

9.  OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Authors:  Bastien Le Roux; Guy Lenaers; Xavier Zanlonghi; Patrizia Amati-Bonneau; Floris Chabrun; Thomas Foulonneau; Angélique Caignard; Stéphanie Leruez; Philippe Gohier; Vincent Procaccio; Dan Milea; Johan T den Dunnen; Pascal Reynier; Marc Ferré
Journal:  Orphanet J Rare Dis       Date:  2019-09-10       Impact factor: 4.123
  9 in total

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