The changing face of Usher syndrome: Clinical implications
Author:
Publisher
Informa UK Limited
Subject
Speech and Hearing,Linguistics and Language,Language and Linguistics
Link
http://www.tandfonline.com/doi/pdf/10.1080/14992020600975279
Reference100 articles.
1. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
2. Interactions in the network of Usher syndrome type 1 proteins
3. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
4. Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
5. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
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1. Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy;Genes;2023-03-05
2. Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush;International Journal of Molecular Sciences;2021-09-26
3. Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy;International Journal of Molecular Sciences;2021-04-10
4. Usher syndrome, an unseen/hidden disability: a phenomenological study of adults across the lifespan living in England;Disability & Society;2021-03-17
5. Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome;Documenta Ophthalmologica;2021-01-28
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