|
|
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.
Journal articles
inserm-02574509v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03086762v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-00472460v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Poppers-associated retinal toxicity.
Catherine Vignal-Clermont
,
Isabelle Audo
,
José-Alain Sahel
,
Michel Paques
Journal articles
inserm-00528153v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
CRB1 mutations in inherited retinal dystrophies.
Kinga Bujakowska
,
Isabelle Audo
,
Saddek Mohand-Saïd
,
Marie-Elise Lancelot
,
Aline Antonio
,
et al.
Journal articles
inserm-00640122v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Postural Instability in Subjects With Usher Syndrome
Maria Pia Bucci
,
Simona Caldani
,
Maud Tisné
,
Sylvette Wiener-Vacher
,
Isabelle Audo
,
et al.
Journal articles
hal-03148980v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01285951v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01824596v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
pasteur-03215026v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01583466v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03269200v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03278573v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03229823v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03134488v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03774125v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01368376v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03215060v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
Pierre-Henry Gabrielle
,
Laurence Faivre
,
Isabelle Audo
,
Xavier Zanlonghi
,
Hélène Dollfus
,
et al.
Journal articles
hal-03321137v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Didanosine-induced retinopathy: new insights with long-term follow-up Authors
Céline Faure
,
Maxime Chassery
,
Raphaëlle Ores
,
Isabelle Audo
Journal articles
hal-03297032v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-03841438v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03417248v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03023526v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01884681v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01436836v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03240900v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01990091v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03345138v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Current challenges of ophthalmology in France.
Isabelle Audo
Journal articles
inserm-00527782v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|