Literature DB >> 15342707

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

P Reynier, P Amati-Bonneau, C Verny, A Olichon, G Simard, A Guichet, C Bonnemains, F Malecaze, M C Malinge, J B Pelletier, P Calvas, H Dollfus, P Belenguer, Y Malthièry, G Lenaers, D Bonneau.   

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Year:  2004        PMID： 15342707      PMCID： PMC1735897          DOI： 10.1136/jmg.2003.016576

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  57 in total

Review 1.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

2.  Siblings with optic neuropathy and RTN4IP1 mutation.

Authors:  Nobuhiko Okamoto; Fuyuki Miya; Yoshikazu Hatsukawa; Yasuhiro Suzuki; Kazumi Kawato; Yuto Yamamoto; Tatsuhiko Tsunoda; Mitsuhiro Kato; Shinji Saitoh; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki
Journal:  J Hum Genet       Date:  2017-06-22       Impact factor: 3.172

Review 3.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

4.  SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Authors:  Valentina Del Dotto; Farid Ullah; Ivano Di Meo; Pamela Magini; Mirjana Gusic; Alessandra Maresca; Leonardo Caporali; Flavia Palombo; Francesca Tagliavini; Evan Harris Baugh; Bertil Macao; Zsolt Szilagyi; Camille Peron; Margaret A Gustafson; Kamal Khan; Chiara La Morgia; Piero Barboni; Michele Carbonelli; Maria Lucia Valentino; Rocco Liguori; Vandana Shashi; Jennifer Sullivan; Shashi Nagaraj; Mays El-Dairi; Alessandro Iannaccone; Ioana Cutcutache; Enrico Bertini; Rosalba Carrozzo; Francesco Emma; Francesca Diomedi-Camassei; Claudia Zanna; Martin Armstrong; Matthew Page; Nicholas Stong; Sylvia Boesch; Robert Kopajtich; Saskia Wortmann; Wolfgang Sperl; Erica E Davis; William C Copeland; Marco Seri; Maria Falkenberg; Holger Prokisch; Nicholas Katsanis; Valeria Tiranti; Tommaso Pippucci; Valerio Carelli
Journal:  J Clin Invest       Date:  2020-01-02       Impact factor: 14.808

5.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

6.  Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.

Authors:  Davide Colavito; Veronica Maritan; Agnese Suppiej; Elda Del Giudice; Monica Mazzarolo; Stefania Miotto; Sofia Farina; Maurizio Dalle Carbonare; Stefano Piermarocchi; Alberta Leon
Journal:  Biomed Rep       Date:  2017-09-22

7.  NR2F1 mutations cause optic atrophy with intellectual disability.

Authors:  Daniëlle G M Bosch; F Nienke Boonstra; Claudia Gonzaga-Jauregui; Mafei Xu; Joep de Ligt; Shalini Jhangiani; Wojciech Wiszniewski; Donna M Muzny; Helger G Yntema; Rolph Pfundt; Lisenka E L M Vissers; Liesbeth Spruijt; Ellen A W Blokland; Chun-An Chen; Richard A Lewis; Sophia Y Tsai; Richard A Gibbs; Ming-Jer Tsai; James R Lupski; Huda Y Zoghbi; Frans P M Cremers; Bert B A de Vries; Christian P Schaaf
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

Review 8.  Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Authors:  G Ho; J H Walter; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  2008-11-07       Impact factor: 4.982

9.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195

10.  Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Authors:  Yang Li; Ting Deng; Yi Tong; Shuling Peng; Bing Dong; Dacheng He
Journal:  Mol Vis       Date:  2008-12-29       Impact factor: 2.367
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