Associated Papers
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2024
38884554 (PubMed )
Supplement: iovs-65-6-25_s003.xlsx › DOMAIN_annotation
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
34948090 (PubMed )
Supplement: ijms-22-13294-s001.zip › supplementary_tables › TableS1.xlsx › Feuil1
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Subirà O et al.
Eye (london, England), 2020
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ et al.
Orphanet Journal of Rare Diseases, 2014
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
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