| 000 | 01536 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516155312.0 | ||
| 264 | 0 | _c20151022 | |
| 008 | 201510s 0 0 eng d | ||
| 022 | _a1468-1331 | ||
| 024 | 7 |
_a10.1111/ene.12220 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGregianin, E | |
| 245 | 0 | 0 |
_aA novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. _h[electronic resource] |
| 260 |
_bEuropean journal of neurology _cNov 2013 |
||
| 300 |
_a1486-91 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aHeat-Shock Proteins _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMuscle Spasticity _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aParaplegia _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeripheral Nervous System Diseases _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSpinocerebellar Ataxias _xcongenital |
| 700 | 1 | _aVazza, G | |
| 700 | 1 | _aScaramel, E | |
| 700 | 1 | _aBoaretto, F | |
| 700 | 1 | _aVettori, A | |
| 700 | 1 | _aLeonardi, E | |
| 700 | 1 | _aTosatto, S C E | |
| 700 | 1 | _aManara, R | |
| 700 | 1 | _aPegoraro, E | |
| 700 | 1 | _aMostacciuolo, M L | |
| 773 | 0 |
_tEuropean journal of neurology _gvol. 20 _gno. 11 _gp. 1486-91 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/ene.12220 _zAvailable from publisher's website |
| 999 |
_c22865987 _d22865987 |
||