| 000 | 01859 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250516220127.0 | ||
| 264 | 0 | _c20150511 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22604 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVulinovic, Franca | |
| 245 | 0 | 0 |
_aUnraveling cellular phenotypes of novel TorsinA/TOR1A mutations. _h[electronic resource] |
| 260 |
_bHuman mutation _cSep 2014 |
||
| 300 |
_a1114-22 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAutophagy |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aDystonia Musculorum Deformans _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntracellular Space _xmetabolism |
| 650 | 0 | 4 |
_aLysosomes _xmetabolism |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMolecular Chaperones _xchemistry |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aProtein Multimerization |
| 650 | 0 | 4 | _aProtein Stability |
| 650 | 0 | 4 | _aProtein Transport |
| 650 | 0 | 4 | _aProteolysis |
| 650 | 0 | 4 | _aSignal Transduction |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aLohmann, Katja | |
| 700 | 1 | _aRakovic, Aleksandar | |
| 700 | 1 | _aCapetian, Philipp | |
| 700 | 1 | _aAlvarez-Fischer, Daniel | |
| 700 | 1 | _aSchmidt, Alexander | |
| 700 | 1 | _aWeißbach, Anne | |
| 700 | 1 | _aErogullari, Alev | |
| 700 | 1 | _aKaiser, Frank J | |
| 700 | 1 | _aWiegers, Karin | |
| 700 | 1 | _aFerbert, Andreas | |
| 700 | 1 | _aRolfs, Arndt | |
| 700 | 1 | _aKlein, Christine | |
| 700 | 1 | _aSeibler, Philip | |
| 773 | 0 |
_tHuman mutation _gvol. 35 _gno. 9 _gp. 1114-22 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22604 _zAvailable from publisher's website |
| 999 |
_c23920478 _d23920478 |
||