| 000 | 01692 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250514165334.0 | ||
| 264 | 0 | _c20040304 | |
| 008 | 200403s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/01.wnl.0000099371.14478.73 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOgawa, T | |
| 245 | 0 | 0 |
_aIdentification of a SACS gene missense mutation in ARSACS. _h[electronic resource] |
| 260 |
_bNeurology _cJan 2004 |
||
| 300 |
_a107-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAtaxia _xcomplications |
| 650 | 0 | 4 |
_aCerebellum _xpathology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDysarthria _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGait Disorders, Neurologic _xdiagnosis |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aHeat-Shock Proteins _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Spasticity _xcomplications |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Fibers, Myelinated _xpathology |
| 650 | 0 | 4 | _aNeural Conduction |
| 650 | 0 | 4 | _aNeuropsychological Tests |
| 650 | 0 | 4 |
_aRetina _xpathology |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aSural Nerve _xpathology |
| 700 | 1 | _aTakiyama, Y | |
| 700 | 1 | _aSakoe, K | |
| 700 | 1 | _aMori, K | |
| 700 | 1 | _aNamekawa, M | |
| 700 | 1 | _aShimazaki, H | |
| 700 | 1 | _aNakano, I | |
| 700 | 1 | _aNishizawa, M | |
| 773 | 0 |
_tNeurology _gvol. 62 _gno. 1 _gp. 107-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/01.wnl.0000099371.14478.73 _zAvailable from publisher's website |
| 999 |
_c14446989 _d14446989 |
||