Literature DB >> 22797356

OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia.

X Ayrignac, C Liauzun, G Lenaers, D Renard, P Amati-Bonneau, J de Sèze, H Dollfus, C Hamel, D Bonneau, P Labauge.   

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Year:  2012        PMID： 22797356     DOI： 10.1159/000339310

Source DB:  PubMed          Journal:  Eur Neurol        ISSN： 0014-3022            Impact factor:   1.710


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  4 in total

Review 1.  Mitochondrial dynamic changes in health and genetic diseases.

Authors:  Le Chen; Allison J Winger; Anne A Knowlton
Journal:  Mol Biol Rep       Date:  2014-11       Impact factor: 2.316

2.  Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.

Authors:  Stephanie C Bourne; Katelin N Townsend; Casper Shyr; Allison Matthews; Scott A Lear; Raj Attariwala; Anna Lehman; Wyeth W Wasserman; Clara van Karnebeek; Graham Sinclair; Hilary Vallance; William T Gibson
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-01

3.  Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Authors:  Alejandro Horga; Enrico Bugiardini; Andreea Manole; Fion Bremner; Zane Jaunmuktane; Lois Dankwa; Adriana P Rebelo; Catherine E Woodward; Iain P Hargreaves; Andrea Cortese; Alan M Pittman; Sebastian Brandner; James M Polke; Robert D S Pitceathly; Stephan Züchner; Michael G Hanna; Steven S Scherer; Henry Houlden; Mary M Reilly
Journal:  Neurol Genet       Date:  2019-04-01

4.  A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Authors:  Majida Charif; Agathe Roubertie; Sara Salime; Sonia Mamouni; Cyril Goizet; Christian P Hamel; Guy Lenaers
Journal:  Front Genet       Date:  2015-10-19       Impact factor: 4.599
  4 in total

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