An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems.
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
High loop rate adaptive optics flood illumination ophthalmoscope with structured illumination capability.
Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next generation sequencing
Jointly super-resolved and optically sectioned Bayesian reconstruction method for structured illumination microscopy.
Monitoring the evolution of boron doped porous diamond electrode on flexible retinal implant by OCT and in vivo impedance spectroscopy.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.
Phenotypic characteristics of rod-cone dystrophy associated with myo7a mutations in a large french cohort
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review, Disability and Rehabilitation.
Quantitative and Topographical Analysis of the Losses of Cone Photoreceptors and Retinal Ganglion Cells Under Taurine Depletion.
Red-shifted channelrhodopsin stimulation restores light responses in blind mice, macaque retina, and human retina.
Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals