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Biomarker and diagnostic research for Gemignani syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Gemignani syndrome.
122 publications have been identified in PubMed for Gemignani syndrome. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (23%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 34 | 28% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Gemignani syndrome
28 |
23% |
Research summaries | 19 | 16% |
Disease patterns and progression | 19 | 16% |
Clinical study results | 15 | 12% |
Testing and diagnosis research | 5 | 4% |
New treatment approaches | 2 | 2% |
Vieira AA (2026). [PMID: 41770293](https://pubmed.ncbi.nlm.nih.gov/41770293/). *Cerebellum*. [Gene Therapy / Novel Therapeutics]
Baumeister H (2026). [PMID: 41443080](https://pubmed.ncbi.nlm.nih.gov/41443080/). *EBioMedicine*. [Basic Science / Preclinical]
Alm V (2026). [PMID: 41603480](https://pubmed.ncbi.nlm.nih.gov/41603480/). *European journal of neurology*. [Basic Science / Preclinical]
Pellerin D (2026). [PMID: 42178418](https://pubmed.ncbi.nlm.nih.gov/42178418/). *J Neurol*. [Case Report / Case Series]
Théberge ET (2026). [PMID: 41649386](https://pubmed.ncbi.nlm.nih.gov/41649386/). *Am J Med Genet A*. [Case Report / Case Series]
Ramakrishnan S (2026). [PMID: 32644680](https://pubmed.ncbi.nlm.nih.gov/32644680/). *Unknown Journal*. [Review / Meta-Analysis]
Ramirez-Zamora A (2026). [PMID: 42261003](https://pubmed.ncbi.nlm.nih.gov/42261003/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]
Potashman MH (2026). [PMID: 41706362](https://pubmed.ncbi.nlm.nih.gov/41706362/). *Neurol Ther*. [Basic Science / Preclinical]
Fortin J (2026). [PMID: 41669957](https://pubmed.ncbi.nlm.nih.gov/41669957/). *Mov Disord*. [Epidemiology / Natural History]
Cardoso F (2026). [PMID: 41612618](https://pubmed.ncbi.nlm.nih.gov/41612618/). *Brain : a journal of neurology*. [Case Report / Case Series]