| 000 | 01596 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516234315.0 | ||
| 264 | 0 | _c20150217 | |
| 008 | 201502s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/WNL.0000000000000909 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGuo, Yuh-Cherng | |
| 245 | 0 | 0 |
_aSpinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. _h[electronic resource] |
| 260 |
_bNeurology _cOct 2014 |
||
| 300 |
_a1554-61 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 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aEndoplasmic Reticulum _xmetabolism |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHEK293 Cells _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 |
_aMachado-Joseph Disease _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondria _xmetabolism |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aTaiwan |
| 650 | 0 | 4 |
_aTorticollis _xetiology |
| 650 | 0 | 4 | _aTransfection |
| 650 | 0 | 4 |
_aTransglutaminases _xgenetics |
| 700 | 1 | _aLin, Juei-Jueng | |
| 700 | 1 | _aLiao, Yi-Chu | |
| 700 | 1 | _aTsai, Pei-Chien | |
| 700 | 1 | _aLee, Yi-Chung | |
| 700 | 1 | _aSoong, Bing-Wen | |
| 773 | 0 |
_tNeurology _gvol. 83 _gno. 17 _gp. 1554-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/WNL.0000000000000909 _zAvailable from publisher's website |
| 999 |
_c24220543 _d24220543 |
||