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Biomarker and diagnostic research for Emery-Nelson syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Emery-Nelson syndrome.
228 publications have been identified in PubMed for Emery-Nelson syndrome. Research spans Review / Meta-Analysis (57%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 130 | 57% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 1:02 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Emery-Nelson syndrome
32 |
14% |
Disease patterns and progression | 29 | 13% |
Patient case studies | 28 | 12% |
Testing and diagnosis research | 5 | 2% |
Other research | 3 | 1% |
Clinical study results | 1 | 0% |
Mountford R (2026). [PMID: 41637667](https://pubmed.ncbi.nlm.nih.gov/41637667/). *Eur J Pain*. [Review / Meta-Analysis]
Xiao F (2026). [PMID: 41531116](https://pubmed.ncbi.nlm.nih.gov/41531116/). *Epilepsia*. [Diagnostic / Biomarker]
Fujiwara K (2026). [PMID: 41418585](https://pubmed.ncbi.nlm.nih.gov/41418585/). *Auris Nasus Larynx*. [Case Report / Case Series]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Curr Opin Gastroenterol*. [Review / Meta-Analysis]
Avelino-Silva TJ (2026). [PMID: 41591773](https://pubmed.ncbi.nlm.nih.gov/41591773/). *JAMA Netw Open*. [Epidemiology / Natural History]
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Cioni P (2026). [PMID: 41437650](https://pubmed.ncbi.nlm.nih.gov/41437650/). *Rheumatology (Oxford)*. [Epidemiology / Natural History]
Meeta M (2026). [PMID: 41767293](https://pubmed.ncbi.nlm.nih.gov/41767293/). *J Midlife Health*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]