The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 2051-5960 |
| Author | Boizot, Alexia, Talmat-Amar, Yasmina, Morrogh, Deborah, Kuntz, Nancy, Halbert, Cecile, Chabrol, Brigitte, Houlden, Henry, Stojkovic, Tanya, Schulman, Brenda, Rautenstrauss, Bernd, Bomont, Pascale |
| Maintainer | CCSD |
| Last Updated | May 5, 2026, 11:33 (UTC) |
| Created | May 5, 2026, 11:33 (UTC) |
| Identifier | inserm-00989733 |
| Language | en |
| Rights | https://about.hal.science/hal-authorisation-v1/ |
| contributor | Institut des Neurosciences de Montpellier (INM) ; Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM) |
| creator | Boizot, Alexia |
| date | 2014-04-24T00:00:00 |
| harvest_object_id | da116af6-fa92-4a53-a52f-d1f19c1b6366 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2026-02-07T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1186/2051-5960-2-47 |
| set_spec | type:ART |