| 000 | 01334 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517171340.0 | ||
| 264 | 0 | _c20180720 | |
| 008 | 201807s 0 0 eng d | ||
| 022 | _a1529-8027 | ||
| 024 | 7 |
_a10.1111/jns.12235 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTomaselli, Pedro J | |
| 245 | 0 | 0 |
_aA de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. _h[electronic resource] |
| 260 |
_bJournal of the peripheral nervous system : JPNS _c12 2017 |
||
| 300 |
_a460-463 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAutism Spectrum Disorder _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKinesins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aParaplegia _xgenetics |
| 650 | 0 | 4 |
_aPeripheral Nervous System Diseases _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aRossor, Alexander M | |
| 700 | 1 | _aHorga, Alejandro | |
| 700 | 1 | _aLaura, Matilde | |
| 700 | 1 | _aBlake, Julian C | |
| 700 | 1 | _aHoulden, Henry | |
| 700 | 1 | _aReilly, Mary M | |
| 773 | 0 |
_tJournal of the peripheral nervous system : JPNS _gvol. 22 _gno. 4 _gp. 460-463 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/jns.12235 _zAvailable from publisher's website |
| 999 |
_c27491545 _d27491545 |
||