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authFullName_s : Isabelle Audo
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Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy

Juliette Varin , Margaret M Reynolds , Nassima Bouzidi , Sarah Tick , Juliette Wohlschlegel , et al.
PLoS ONE, 2020, 15 (4), pp.e0231750. ⟨10.1371/journal.pone.0231750⟩
Journal articles inserm-02574509v1
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo , Susanne Kohl , Bart P Leroy , Francis L Munier , Xavier Guillonneau , et al.
American Journal of Human Genetics, 2009, 85, pp.720 - 729. ⟨10.1016/j.ajhg.2009.10.013⟩
Journal articles hal-03086762v1
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Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Isabelle Audo , Gaël Manes , Saddek Mohand-Saïd , Anne Friedrich , Marie-Elise Lancelot , et al.
Investigative Ophthalmology & Visual Science, 2010, 51 (7), pp.3687-700. ⟨10.1167/iovs.09-4766⟩
Journal articles inserm-00472460v1
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Poppers-associated retinal toxicity.

Catherine Vignal-Clermont , Isabelle Audo , José-Alain Sahel , Michel Paques
New England Journal of Medicine, 2010, 363 (16), pp.1583-5. ⟨10.1056/NEJMc1005118⟩
Journal articles inserm-00528153v1
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Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort

Sivasankar Malaichamy , Parveen Sen , Ramya Sachidanandam , Tharigopala Arokiasamy , Marie-Elise Lancelot , et al.
Molecular Vision, 2014, 20, pp.341-351
Journal articles hal-01332334v1
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CRB1 mutations in inherited retinal dystrophies.

Kinga Bujakowska , Isabelle Audo , Saddek Mohand-Saïd , Marie-Elise Lancelot , Aline Antonio , et al.
Human Mutation, 2012, 33 (2), pp.306-15. ⟨10.1002/humu.21653⟩
Journal articles inserm-00640122v1
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Postural Instability in Subjects With Usher Syndrome

Maria Pia Bucci , Simona Caldani , Maud Tisné , Sylvette Wiener-Vacher , Isabelle Audo , et al.
Frontiers in Neurology, 2019, 10, pp.830. ⟨10.3389/fneur.2019.00830⟩
Journal articles hal-03148980v1
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Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

Marion Neuillé , Sivasankar Malaichamy , Maria Vadalà , Christelle Michiels , Christel Condroyer , et al.
Clinical Epigenetics, 2016, ⟨10.1111/cge.12746⟩
Journal articles hal-01285951v1
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study

Catherine Vignal-Clermont , Jean-François Girmens , Isabelle Audo , Saddek Mohand Said , Marie-Hélène Errera , et al.
Journal articles hal-03139112v1
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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

Isabelle Meunier , Béatrice Bocquet , Gilles Labesse , Christina Zeitz , Sabine Defoort-Dhellemmes , et al.
Scientific Reports, 2016, Scientific reports, 6, pp.32544. ⟨10.1038/srep32544⟩
Journal articles hal-01824596v1
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet , Zied Riahi , Sandra Chantot-Bastaraud , Luce Smagghe , Mélanie Letexier , et al.
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
Journal articles pasteur-03215026v1
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Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

Jordan A. Doumanov , Christina Zeitz , Paloma Dominguez Gimenez , Isabelle Audo , Abhay Krishna , et al.
International Journal of Molecular Sciences, 2013, 14 (7), pp.15121-15140. ⟨10.3390/ijms140715121⟩
Journal articles hal-01583466v1
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Partial recovery of visual function in a blind patient after optogenetic therapy

José-Alain Sahel , Elise Boulanger-Scemama , Chloé Pagot , Angelo Arleo , Francesco Galluppi , et al.
Nature Medicine, 2021, ⟨10.1038/s41591-021-01351-4⟩
Journal articles hal-03269200v1
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Vasily Smirnov , Olivier Grunewald , Jean Muller , Christina Zeitz , Carolin D Obermaier , et al.
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Journal articles hal-03278573v1
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Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Valentina Di Iorio , Marianthi Karali , Paolo Melillo , Francesco Testa , Raffaella Brunetti-Pierri , et al.
Investigative Ophthalmology & Visual Science, 2021, 61 (14), pp.36. ⟨10.1167/iovs.61.14.36⟩
Journal articles hal-03229823v1
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Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

Marco Nassisi , Carlo Lavia , Saddek Mohand-Said , Vasily Smirnov , Aline Antonio , et al.
Scientific Reports, 2021, 11 (1), pp.3180. ⟨10.1038/s41598-021-82757-5⟩
Journal articles hal-03134488v1
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Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue

Amélie Rodrigues , Amélie Slembrouck-Brec , Céline Nanteau , Angélique Terray , Yelyzaveta Tymoshenko , et al.
NPJ Regenerative medicine, 2022, 7, pp.39. ⟨10.1038/s41536-022-00235-6⟩
Journal articles hal-03774125v1
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Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

Marion Neuillé , Said El Samieh , Elise Orhan , Christelle Michiels , Aline Antonio , et al.
PLoS ONE, 2014, 9 (3), pp.e90342. ⟨10.1371/journal.pone.0090342⟩
Journal articles hal-01368376v1
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A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

Elise Orhan , Marion Neuillé , Miguel de Sousa Dias , Thomas Pugliese , Christelle Michiels , et al.
International Journal of Molecular Sciences, 2021, 22 (9), pp.4424. ⟨10.3390/ijms22094424⟩
Journal articles hal-03215060v1
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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Pierre-Henry Gabrielle , Laurence Faivre , Isabelle Audo , Xavier Zanlonghi , Hélène Dollfus , et al.
Scientific Reports, 2021, 11 (1), pp.16412. ⟨10.1038/s41598-021-95743-8⟩
Journal articles hal-03321137v1
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Didanosine-induced retinopathy: new insights with long-term follow-up Authors

Céline Faure , Maxime Chassery , Raphaëlle Ores , Isabelle Audo
Ocular Immunology and Inflammation, 2021, pp.1-8. ⟨10.1080/09273948.2021.1927117⟩
Journal articles hal-03297032v1
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Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Christina Zeitz , Cécile Méjécase , Christelle Michiels , Christel Condroyer , Juliette Wohlschlegel , et al.
International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩
Journal articles inserm-03841438v1
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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Ana Fakin , Crystel Bonnet , Anne Kurtenbach , Saddek Mohand-Said , Ditta Zobor , et al.
International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
Journal articles hal-03417248v1
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The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

David G Birch , Peiyao Cheng , Jacque L Duncan , Allison R Ayala , Maureen G Maguire , et al.
Translational vision science & technology, 2020, 9 (9), ⟨10.1167/tvst.9.11.9⟩
Journal articles hal-03023526v1
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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Marco Nassisi , Saddek Mohand-Saïd , Claire-Marie Dhaenens , Fiona Boyard , Vanessa Démontant , et al.
International Journal of Molecular Sciences, 2018, 19 (8), pp.2196. ⟨10.3390/ijms19082196⟩
Journal articles hal-01884681v1
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Cécile Méjécase , Caroline Laurent-Coriat , Claudine Mayer , Olivier Poch , Saddek Mohand-Saïd , et al.
PLoS ONE, 2016, 11 (12), pp.e0168271. ⟨10.1371/journal.pone.0168271⟩
Journal articles hal-01436836v1
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CNGB1 ‐related rod‐cone dystrophy: A mutation review and update

Marco Nassisi , Vasily M Smirnov , Cyntia Solis Hernandez , Saddek Mohand-Saïd , Christel Condroyer , et al.
Human Mutation, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Journal articles hal-03240900v1
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A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

Mouna Hadrami , Crystel Bonnet , Fatimetou Veten , Christina Zeitz , Christel Condroyer , et al.
European Journal of Ophthalmology, 2019, 29 (6), pp.621-628. ⟨10.1177/1120672118804757⟩
Journal articles hal-01990091v1
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Substantial restoration of night vision in adult mice with congenital stationary night blindness

Juliette Varin , Nassima Bouzidi , Gregory Gauvain , Corentin Joffrois , Melissa Desrosiers , et al.
Molecular Therapy - Methods and Clinical Development, 2021, 22, pp.15 - 25. ⟨10.1016/j.omtm.2021.05.008⟩
Journal articles hal-03345138v1
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Current challenges of ophthalmology in France.

Isabelle Audo
Archives of Ophthalmology -New Series-, 2010, 128 (10), pp.1358-9. ⟨10.1001/archophthalmol.2010.216⟩
Journal articles inserm-00527782v1