| 000 | 01570 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515171748.0 | ||
| 264 | 0 | _c20090820 | |
| 008 | 200908s 0 0 eng d | ||
| 022 | _a1432-1459 | ||
| 024 | 7 |
_a10.1007/s00415-009-0147-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDotti, Maria Teresa | |
| 245 | 0 | 0 |
_aAn infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. _h[electronic resource] |
| 260 |
_bJournal of neurology _cApr 2009 |
||
| 300 |
_a679-82 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 |
_aAlexander Disease _xgenetics |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aCell Line, Tumor |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlial Fibrillary Acidic Protein _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aProtein Multimerization _xgenetics |
| 700 | 1 | _aBuccoliero, Rosaria | |
| 700 | 1 | _aLee, Andrew | |
| 700 | 1 | _aGorospe, J Raphael | |
| 700 | 1 | _aFlint, Daniel | |
| 700 | 1 | _aGalluzzi, Paolo | |
| 700 | 1 | _aBianchi, Silvia | |
| 700 | 1 | _aD'Eramo, Camilla | |
| 700 | 1 | _aNaidu, Sakkubai | |
| 700 | 1 | _aFederico, Antonio | |
| 700 | 1 | _aBrenner, Michael | |
| 773 | 0 |
_tJournal of neurology _gvol. 256 _gno. 4 _gp. 679-82 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00415-009-0147-4 _zAvailable from publisher's website |
| 999 |
_c18871778 _d18871778 |
||