| 000 | 01491 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516212223.0 | ||
| 264 | 0 | _c20140811 | |
| 008 | 201408s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/WNL.0000000000000482 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCanafoglia, Laura | |
| 245 | 0 | 0 |
_aExpanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. _h[electronic resource] |
| 260 |
_bNeurology _cJun 2014 |
||
| 300 |
_a2003-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenome-Wide Association Study _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMucolipidoses _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyoclonus _xdiagnosis |
| 650 | 0 | 4 |
_aNeuraminidase _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aRobbiano, Angela | |
| 700 | 1 | _aPareyson, Davide | |
| 700 | 1 | _aPanzica, Ferruccio | |
| 700 | 1 | _aNanetti, Lorenzo | |
| 700 | 1 | _aGiovagnoli, Anna Rita | |
| 700 | 1 | _aVenerando, Anna | |
| 700 | 1 | _aGellera, Cinzia | |
| 700 | 1 | _aFranceschetti, Silvana | |
| 700 | 1 | _aZara, Federico | |
| 773 | 0 |
_tNeurology _gvol. 82 _gno. 22 _gp. 2003-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/WNL.0000000000000482 _zAvailable from publisher's website |
| 999 |
_c23806383 _d23806383 |
||