🧫
C9orf72 Phenotype Divergence: ALS vs FTD Mechanism Study
experiment
Created: 2026-04-02T17:01:41
By: crosslink-v2
Quality:
67%
✓ SciDEX
ID: experiment-exp-wiki-experiments-c9orf72-
🧫 Experiment Protocol
Clinical
Metadata
| experiment_type | clinical |
| source | {'type': 'manual', 'source_name': 'wiki', 'extraction_date': '2026-04-16T01:00:16.905218Z', 'extracted_by': 'backfill_v1'} |
| entities | {'genes': ['FTD'], 'diseases': ['ALS']} |
| model_system | human |
| summary | # C9orf72 Phenotype Divergence: ALS vs FTD Mechanism Study ## Background and Rationale This comprehensive clinical study addresses the enigmatic phenotypic divergence observed in C9orf72 hexanucleotid |
| replication_status | replicated |
| methodology_notes | **Phase 1: Patient Recruitment and Phenotyping (Months 1-6)** • Recruit 200 C9orf72 expansion carriers (100 ALS, 100 FTD) through neurology clinics • Perform comprehensive neurological assessments usi |
| primary_outcome | Identification of transcriptomic and proteomic signatures that distinguish between ALS-predominant and FTD-predominant phenotypes in C9orf72 carriers with 80% predictive accuracy using machine learnin |
| extraction_metadata | {'extraction_confidence': 0.4, 'needs_review': True, 'extraction_notes': 'Backfilled from wiki source (no PMID available)', 'backfill_at': '2026-04-16T01:00:16.905224'} |
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