Cargando…
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This study aimed to understand the onset of pathology in cochlear structure and f...
Autores principales: | Bryant, Dale, Pauzuolyte, Valda, Ingham, Neil J., Patel, Aara, Pagarkar, Waheeda, Anderson, Lucy A., Smith, Katie E., Moulding, Dale A., Leong, Yeh C., Jafree, Daniyal J., Long, David A., Al-Yassin, Amina, Steel, Karen P., Jagger, Daniel J., Forge, Andrew, Berger, Wolfgang, Sowden, Jane C., Bitner-Glindzicz, Maria |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855802/ https://www.ncbi.nlm.nih.gov/pubmed/35132964 http://dx.doi.org/10.1172/jci.insight.148586 |
Ejemplares similares
-
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
por: Pauzuolyte, Valda, et al.
Publicado: (2023) -
Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care
por: Sowden, Jane C, et al.
Publicado: (2020) -
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
por: Leong, Yeh Chwan, et al.
Publicado: (2022) -
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
por: Al Yassin, Amina, et al.
Publicado: (2019) -
Norris's Contributions to Surgery
Publicado: (1874)