HAL (France)
open access
Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling
The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). In genetic counseling, children of mutation carriers are often told that they have a 50% risk of carrying the mutation, but this figure does not take
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
- Needs of ALS Patients With C9orf72 Mutation and Their Caregivers#969495
- Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.#244136
- The holistic burden of Huntington's disease: A qualitative study of multigenerational impact on individuals and family caregivers across Europe.#610154
- Italian Validation of the Beaumont Behavioural Inventory (BBI)#912411
- GENetic Fronto Temporal Dementia Initiative in Lille#841475
Record · ID 796412
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