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Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
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📄 Paper Details
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van
Abstract
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS). The goal of this summit was to connect basic scientists, clinical researchers, drug developers, and individuals affected by C9ORF72-FTD/ALS to evaluate how collaborative efforts across the FTD-ALS disease spectrum might break down existing disease silos. Presentations...
▸Metadata
| doi | 10.1007/s40120-023-00548-8 |
| pmid | 37847372 |
| year | 2023 |
| pmc_id | PMC10630271 |
| _origin | {'url': 'https://pubmed.ncbi.nlm.nih.gov/37847372/', 'type': 'external', 'tracked_at': '2026-04-23T20:17:15.869367'} |
| authors | ['Sattler R', 'Traynor BJ', 'Robertson J', 'Van Den Bosch L', 'Barmada SJ', 'Svendsen CN', 'Disney MD', 'Gendron TF', 'Wong PC', 'Turner MR', 'Boxer A', 'Babu S', 'Benatar M', 'Kurnellas M', 'Rohrer J |
| journal | Neurology and therapy |
| _schema_version | 1 |
| quality_scoring | {'quality_status_review': {'status': 'pass', 'signals': ['has_provenance_chain', 'has_metadata'], 'task_id': '3854fa92-f632-4cba-be41-396420da7151', 'rationale': 'quality_status assigned by automated |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
5%
Debates
0
Incoming
1
Outgoing
0
0 supporting
0 contradicting
0 neutral
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