eScholarship
metadata only
Altered expression of the FMR1 splicing variants landscape in premutation carriers
FMR1 premutation carriers (55-200 CGG repeats) are at risk for developing Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder. Approximately 20% of female carriers will develop Fragile X-associated Primary Ovarian Insufficiency (FXPOI), in addition to a num
Conceptio Open Archive
Analyze & explore related research in Conceptio
Connect this record directly into your research workflow or AI agent. Explore citations across open repositories, query full text, and export structured proof bundles.
This document is indexed with metadata only: full text is not available in the archive for this record. Open the official source ↗
Related documents
- Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome#1298534
- Assessment of Ovarian Reserve in Patients With Fragile X Premutation#1032874
- Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine#1249964
- SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity#1250461
- Open-Label Trial of Sulforaphane in Premutation Carriers With FXTAS#1230097
Record · ID 1298677
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Bring this data into your agent: Connect via MCP or API · 20 free credits to start · no card required
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive