Informações do membro
Pr José-Alain Sahel
France
Time
Pr Isabelle Audo
France
Dr Christina Zeitz
France
Dr Catherine Vignal-Clermont
France
Centro de saúde
Contacto
RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Ensaios clínicos
A Post-Authorization, Multicenter, Multinational, Longitudinal,Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec.
A Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt’s Macular Degeneration.
An Open-Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B.
Argus® II Retinal Prosthesis System: Post-Market Study
Argus® II Retinal Stimulation System Feasibility Protocol.
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey.
Phase I/IIa Study of SAR422459 in Patients With Stargardt’s Macular Degeneration.
Prospective Natural History Study of Retinitis Pigmentosa (PHENOROD2)
Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B.
Prospective study of visual function in USHER syndrome induced by MYO7A mutation and retinotosis pigmentosa.
Publicações científicas
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Um estudo abrangente aplicando sequenciamento Sanger direto das regiões codificadoras de genes, exoma e sequenciamento do genoma aplicado a uma grande coorte de...
Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
As medidas quantitativas de SP diminuíram significativamente ao longo de 2 anos na retina relacionada com USH2A...
Shedding light on myopia by studying complete congenital stationary night blindness
Os resultados fornecem uma base para orientar o desenvolvimento da miopia farmacológica...