Published May 20, 2020
| Version v1
Journal article
Open
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Creators
- Charif, Majida1
- Chevrollier, Arnaud1
- Gueguen, Naïg
- Bris, Céline1
- Goudenège, David1
- Desquiret-Dumas, Valérie1
- Leruez, Stéphanie1
- Colin, Estelle1
- Meunier, Audrey2
- Vignal, Catherine3
- Smirnov, Vasily4
- Defoort-Dhellemmes, Sabine4
- Drumare Bouvet, Isabelle4
- Goizet, Cyril5
- Votruba, Marcela6
- Jurkute, Neringa7
- Yu-Wai-Man, Patrick8
- Tagliavini, Francesca9
- Caporali, Leonardo9
- La Morgia, Chiara9
- Carelli, Valerio9
- Procaccio, Vincent1
- Zanlonghi, Xavier10
- Meunier, Isabelle11
- Reynier, Pascal1
- Bonneau, Dominique1
- Amati-Bonneau, Patrizia1
- Lenaers, Guy1
- 1. UMR CNRS 6015—INSERM U1083, Institut MitoVasc, Angers University and Hospital
- 2. Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium
- 3. Rothschild Ophthalmologic Foundation, Paris
- 4. Lille University Hospital
- 5. Centre de Référence « Neurogénétique » and Université de Bordeaux
- 6. Cardiff University and Cardiff Eye Unit, University Hospital of Wales
- 7. NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology
- 8. Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge
- 9. IRCCS Istituto Delle Scienze Neurologiche di Bologna
- 10. Clinique Pluridisciplinaire Jules Verne, Nantes
- 11. Genetics of Sensory Diseases, University Hospital, Montpellier,
Description
FASTQ files of probands' optic atrophy genes panel
Files
Files
(954.3 MB)
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md5:3cb3d407a82cc49fddbc8a402acd0280
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md5:528881314c82d64be52fed12afd8f60a
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md5:e7052c6eea6f746ba2339a0d828b6a60
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md5:e10b3a521cc5b371a62c0c6df6f9cd67
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md5:9f669b329e44db8dd0e39772bf1f7798
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md5:bb511922a8fdf7602e6e7ae57b3b9386
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md5:f3145c6ed492095fa66921112db5f5d8
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md5:655ab32d9c56615a7b7af2d929961f0d
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25.9 MB | Download |
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md5:b17c8e16563482219845d73098acb56c
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27.3 MB | Download |