| 000 | 01648 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517110112.0 | ||
| 264 | 0 | _c20170605 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1531-8249 | ||
| 024 | 7 |
_a10.1002/ana.24744 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDuis, Jessica | |
| 245 | 0 | 0 |
_aKIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. _h[electronic resource] |
| 260 |
_bAnnals of neurology _cOct 2016 |
||
| 300 |
_a633-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aApnea _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDeglutition Disorders _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aKinesins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xcomplications |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyoclonus _xgenetics |
| 650 | 0 | 4 |
_aOptic Nerve _xabnormalities |
| 700 | 1 | _aDean, Shannon | |
| 700 | 1 | _aApplegate, Carolyn | |
| 700 | 1 | _aHarper, Amy | |
| 700 | 1 | _aXiao, Rui | |
| 700 | 1 | _aHe, Weimin | |
| 700 | 1 | _aDollar, James D | |
| 700 | 1 | _aSun, Lisa R | |
| 700 | 1 | _aWaberski, Marta Biderman | |
| 700 | 1 | _aCrawford, Thomas O | |
| 700 | 1 | _aHamosh, Ada | |
| 700 | 1 | _aStafstrom, Carl E | |
| 773 | 0 |
_tAnnals of neurology _gvol. 80 _gno. 4 _gp. 633-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ana.24744 _zAvailable from publisher's website |
| 999 |
_c26271002 _d26271002 |
||