| 000 | 01623 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514054007.0 | ||
| 264 | 0 | _c20030114 | |
| 008 | 200301s 0 0 eng d | ||
| 022 | _a0028-3878 | ||
| 024 | 7 |
_a10.1212/01.wnl.0000041666.76863.47 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFogli, A | |
| 245 | 0 | 0 |
_aA severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. _h[electronic resource] |
| 260 |
_bNeurology _cDec 2002 |
||
| 300 |
_a1966-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAtaxia _xgenetics |
| 650 | 0 | 4 |
_aBasal Ganglia _xpathology |
| 650 | 0 | 4 |
_aErythrocytes _xmetabolism |
| 650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 |
_aGuanosine Triphosphate _xblood |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIndians, North American |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLeukoencephalopathy, Progressive Multifocal _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aOligodendroglia _xpathology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Genetic _xgenetics |
| 650 | 0 | 4 |
_aThalamus _xpathology |
| 700 | 1 | _aDionisi-Vici, C | |
| 700 | 1 | _aDeodato, F | |
| 700 | 1 | _aBartuli, A | |
| 700 | 1 | _aBoespflug-Tanguy, O | |
| 700 | 1 | _aBertini, E | |
| 773 | 0 |
_tNeurology _gvol. 59 _gno. 12 _gp. 1966-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000041666.76863.47 _zAvailable from publisher's website |
| 999 |
_c12303059 _d12303059 |
||