| 000 | 01829 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250518083126.0 | ||
| 264 | 0 | _c20210517 | |
| 008 | 202105s 0 0 eng d | ||
| 022 | _a1432-0533 | ||
| 024 | 7 |
_a10.1007/s00401-020-02128-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAlMuhaizea, Mohammed | |
| 245 | 0 | 0 |
_aTruncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. _h[electronic resource] |
| 260 |
_bActa neuropathologica _c04 2020 |
||
| 300 |
_a791-794 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBrain Diseases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMovement Disorders _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 700 | 1 | _aAlMass, Rawan | |
| 700 | 1 | _aAlHargan, Aljouhra | |
| 700 | 1 | _aAlBader, Anoud | |
| 700 | 1 | _aMedico Salsench, Eva | |
| 700 | 1 | _aHowaidi, Jude | |
| 700 | 1 | _aIhinger, Jacie | |
| 700 | 1 | _aKarachunski, Peter | |
| 700 | 1 | _aBegtrup, Amber | |
| 700 | 1 | _aSegura Castell, Monica | |
| 700 | 1 | _aBauer, Peter | |
| 700 | 1 | _aBertoli-Avella, Aida | |
| 700 | 1 | _aKaya, Ibrahim H | |
| 700 | 1 | _aAlSufayan, Jumanah | |
| 700 | 1 | _aAlQuait, Laila | |
| 700 | 1 | _aChedrawi, Aziza | |
| 700 | 1 | _aArold, Stefan T | |
| 700 | 1 | _aColak, Dilek | |
| 700 | 1 | _aBarakat, Tahsin Stefan | |
| 700 | 1 | _aKaya, Namik | |
| 773 | 0 |
_tActa neuropathologica _gvol. 139 _gno. 4 _gp. 791-794 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00401-020-02128-8 _zAvailable from publisher's website |
| 999 |
_c30584069 _d30584069 |
||