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Biomarker and diagnostic research for neuromuscular disease caused by qualitative or quantitative defects of titin has been reported in the published literature.
No clinical trials have been registered for neuromuscular disease caused by qualitative or quantitative defects of titin.
121 publications have been identified in PubMed for neuromuscular disease caused by qualitative or quantitative defects of titin. Research spans Case Report / Case Series (32%), Other (20%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 31 | 32% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 5:45 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Other research |
19 |
20% |
Research summaries | 19 | 20% |
Laboratory research | 13 | 13% |
Testing and diagnosis research | 6 | 6% |
Disease patterns and progression | 6 | 6% |
Clinical study results | 2 | 2% |
New treatment approaches | 1 | 1% |
Antonson C (2026). [PMID: 41988564](https://pubmed.ncbi.nlm.nih.gov/41988564/). *Front Public Health*. [Case Report / Case Series]
Kramarz C (2026). [PMID: 42231561](https://pubmed.ncbi.nlm.nih.gov/42231561/). *J Peripher Nerv Syst*. [Epidemiology / Natural History]
van der Laan TMJ (2026). [PMID: 41973741](https://pubmed.ncbi.nlm.nih.gov/41973741/). *PLoS One*. [Epidemiology / Natural History]
Paroli M (2026). [PMID: 41432692](https://pubmed.ncbi.nlm.nih.gov/41432692/). *Journal of neurophysiology*. [Basic Science / Preclinical]
Renou S (2026). [PMID: 40763243](https://pubmed.ncbi.nlm.nih.gov/40763243/). *Menopause (New York, N.Y.)*. [Basic Science / Preclinical]
Hoffman RJ (2026). [PMID: 41592939](https://pubmed.ncbi.nlm.nih.gov/41592939/). *Archives of disease in childhood*. [Diagnostic / Biomarker]
Bashirov R (2026). [PMID: 42178473](https://pubmed.ncbi.nlm.nih.gov/42178473/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Schoser B (2026). [PMID: 41689635](https://pubmed.ncbi.nlm.nih.gov/41689635/). *Journal of neurology*. [Gene Therapy / Novel Therapeutics]
Demirkol H (2026). [PMID: 41124361](https://pubmed.ncbi.nlm.nih.gov/41124361/). *J Back Musculoskelet Rehabil*. [Case Report / Case Series]
Allergodt K (2026). [PMID: 40842110](https://pubmed.ncbi.nlm.nih.gov/40842110/). *Disabil Rehabil*. [Case Report / Case Series]