| 000 | 01731 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516210707.0 | ||
| 264 | 0 | _c20141208 | |
| 008 | 201412s 0 0 eng d | ||
| 022 | _a2051-5960 | ||
| 024 | 7 |
_a10.1186/2051-5960-2-47 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBoizot, Alexia | |
| 245 | 0 | 0 |
_aThe instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. _h[electronic resource] |
| 260 |
_bActa neuropathologica communications _cApr 2014 |
||
| 300 |
_a47 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChlorocebus aethiops |
| 650 | 0 | 4 |
_aCytoskeletal Proteins _xmetabolism |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDatasets as Topic |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Expression Regulation _xgenetics |
| 650 | 0 | 4 |
_aGiant Axonal Neuropathy _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aTransfection |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aTalmat-Amar, Yasmina | |
| 700 | 1 | _aMorrogh, Deborah | |
| 700 | 1 | _aKuntz, Nancy L | |
| 700 | 1 | _aHalbert, Cecile | |
| 700 | 1 | _aChabrol, Brigitte | |
| 700 | 1 | _aHoulden, Henry | |
| 700 | 1 | _aStojkovic, Tanya | |
| 700 | 1 | _aSchulman, Brenda A | |
| 700 | 1 | _aRautenstrauss, Bernd | |
| 700 | 1 | _aBomont, Pascale | |
| 773 | 0 |
_tActa neuropathologica communications _gvol. 2 _gp. 47 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/2051-5960-2-47 _zAvailable from publisher's website |
| 999 |
_c23762256 _d23762256 |
||