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Biomarker and diagnostic research for ataxia-tapetoretinal degeneration syndrome has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for ataxia-tapetoretinal degeneration syndrome.
234 publications have been identified in PubMed for ataxia-tapetoretinal degeneration syndrome. Kisho has analyzed 36 by research type. Research spans Review / Meta-Analysis (58%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 21 | 58% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:50 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
6 |
17% |
Disease patterns and progression | 3 | 8% |
New treatment approaches | 3 | 8% |
Patient case studies | 2 | 6% |
Testing and diagnosis research | 1 | 3% |
Singh D (2026). [PMID: 35201711](https://pubmed.ncbi.nlm.nih.gov/35201711/). *Unknown Journal*. [Gene Therapy / Novel Therapeutics]
Wang X (2026). [PMID: 41448386](https://pubmed.ncbi.nlm.nih.gov/41448386/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Mars JA (2026). [PMID: 36256781](https://pubmed.ncbi.nlm.nih.gov/36256781/). *Unknown Journal*. [Diagnostic / Biomarker]
Shukla UV (2026). [PMID: 33620856](https://pubmed.ncbi.nlm.nih.gov/33620856/). *Unknown Journal*. [Basic Science / Preclinical]
Yuan Q (2026). [PMID: 41539473](https://pubmed.ncbi.nlm.nih.gov/41539473/). *J Genet Genomics*. [Basic Science / Preclinical]
Hatton CL (2025). [PMID: 40798926](https://pubmed.ncbi.nlm.nih.gov/40798926/). *J Peripher Nerv Syst*. [Basic Science / Preclinical]
Stephenson KAJ (2025). [PMID: 40339601](https://pubmed.ncbi.nlm.nih.gov/40339601/). *Can J Ophthalmol*. [Epidemiology / Natural History]
Berciano J (2025). [PMID: 40466272](https://pubmed.ncbi.nlm.nih.gov/40466272/). *Med Clin (Barc)*. [Review / Meta-Analysis]
Higuchi M (2025). [PMID: 41002384](https://pubmed.ncbi.nlm.nih.gov/41002384/). *Cells*. [Review / Meta-Analysis]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]