Scientific Publications

Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial

Professional(s) : Isabelle MEUNIER, Christophe ORSSAUD

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; OPHTARA - Hôpital Européen Georges Pompidou, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa

Professional(s) : Isabelle MEUNIER, Christina Zeitz, José-Alain Sahel, Isabelle Audo

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT

Professional(s) : Isabelle MEUNIER, José-Alain Sahel, Isabelle Audo

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

Professional(s) : Isabelle MEUNIER, Camiel BOON, Carel HOYNG, Susanne KOHL, Ingeborgh VAN DEN BORN, Elfride DE BAERE

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; Amsterdam University Medical Center / Leiden University Medical Center ; Radboud university medical center, Nijmegen, Netherlands ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Ghent University Hospital, Ghent, Belgium

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Monogenic autoinflammatory uveitis

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

Professional(s) : Isabelle Audo

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population

Professional(s) : Susana Noval, Elena Vallespín, Oriana D'Anna

Center(s) : Hospital Universitario La Paz, Spain