000 | 01564 a2200469 4500 | ||
---|---|---|---|
005 | 20250517123332.0 | ||
264 | 0 | _c20180814 | |
008 | 201808s 0 0 eng d | ||
022 | _a1468-6244 | ||
024 | 7 |
_a10.1136/jmedgenet-2016-104148 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGarcía, Adolfo M | |
245 | 0 | 0 |
_aThe cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations. _h[electronic resource] |
260 |
_bJournal of medical genetics _c02 2017 |
||
300 |
_a114-124 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAtaxia _xdiagnosis |
650 | 0 | 4 | _aAtrophy |
650 | 0 | 4 |
_aCerebellum _xmetabolism |
650 | 0 | 4 | _aCognition |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMotor Activity |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aNeuroimaging |
650 | 0 | 4 | _aSemantics |
650 | 0 | 4 |
_aUbiquitin-Protein Ligases _xgenetics |
700 | 1 | _aAbrevaya, Sofía | |
700 | 1 | _aKozono, Giselle | |
700 | 1 | _aCordero, Indira García | |
700 | 1 | _aCórdoba, Marta | |
700 | 1 | _aKauffman, Marcelo Andrés | |
700 | 1 | _aPautassi, Ricardo | |
700 | 1 | _aMuñoz, Edinson | |
700 | 1 | _aSedeño, Lucas | |
700 | 1 | _aIbáñez, Agustín | |
773 | 0 |
_tJournal of medical genetics _gvol. 54 _gno. 2 _gp. 114-124 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2016-104148 _zAvailable from publisher's website |
999 |
_c26575356 _d26575356 |