| 000 | 01585 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516170839.0 | ||
| 264 | 0 | _c20131211 | |
| 008 | 201312s 0 0 eng d | ||
| 022 | _a1526-632X | ||
| 024 | 7 |
_a10.1212/WNL.0b013e3182a4a518 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEchaniz-Laguna, Andoni | |
| 245 | 0 | 0 |
_aSURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. _h[electronic resource] |
| 260 |
_bNeurology _cOct 2013 |
||
| 300 |
_a1523-30 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xdeficiency |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xdeficiency |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 700 | 1 | _aGhezzi, Daniele | |
| 700 | 1 | _aChassagne, Maïté | |
| 700 | 1 | _aMayençon, Martine | |
| 700 | 1 | _aPadet, Sylvie | |
| 700 | 1 | _aMelchionda, Laura | |
| 700 | 1 | _aRouvet, Isabelle | |
| 700 | 1 | _aLannes, Béatrice | |
| 700 | 1 | _aBozon, Dominique | |
| 700 | 1 | _aLatour, Philippe | |
| 700 | 1 | _aZeviani, Massimo | |
| 700 | 1 | _aMousson de Camaret, Bénédicte | |
| 773 | 0 |
_tNeurology _gvol. 81 _gno. 17 _gp. 1523-30 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/WNL.0b013e3182a4a518 _zAvailable from publisher's website |
| 999 |
_c23079587 _d23079587 |
||