| 000 | 01357 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250517010055.0 | ||
| 264 | 0 | _c20150415 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a2168-6157 | ||
| 024 | 7 |
_a10.1001/jamaneurol.2014.1902 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTrang, Heather | |
| 245 | 0 | 0 |
_aMassive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. _h[electronic resource] |
| 260 |
_bJAMA neurology _cFeb 2015 |
||
| 300 |
_a219-23 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenomic Instability _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSpinocerebellar Ataxias _xgenetics |
| 650 | 0 | 4 |
_aTrinucleotide Repeat Expansion _xgenetics |
| 700 | 1 | _aStanley, Sabrina Y | |
| 700 | 1 | _aThorner, Paul | |
| 700 | 1 | _aFaghfoury, Hannaneh | |
| 700 | 1 | _aSchulze, Andreas | |
| 700 | 1 | _aHawkins, Cynthia | |
| 700 | 1 | _aPearson, Christopher E | |
| 700 | 1 | _aYoon, Grace | |
| 773 | 0 |
_tJAMA neurology _gvol. 72 _gno. 2 _gp. 219-23 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1001/jamaneurol.2014.1902 _zAvailable from publisher's website |
| 999 |
_c24458868 _d24458868 |
||