| 000 | 01710 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516071422.0 | ||
| 264 | 0 | _c20120719 | |
| 008 | 201207s 0 0 eng d | ||
| 022 | _a1460-2156 | ||
| 024 | 7 |
_a10.1093/brain/awr323 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRouzier, Cécile | |
| 245 | 0 | 0 |
_aThe MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. _h[electronic resource] |
| 260 |
_bBrain : a journal of neurology _cJan 2012 |
||
| 300 |
_a23-34 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aDNA Damage |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTP Phosphohydrolases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondrial Myopathies _xcomplications |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOptic Atrophy _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aBannwarth, Sylvie | |
| 700 | 1 | _aChaussenot, Annabelle | |
| 700 | 1 | _aChevrollier, Arnaud | |
| 700 | 1 | _aVerschueren, Annie | |
| 700 | 1 | _aBonello-Palot, Nathalie | |
| 700 | 1 | _aFragaki, Konstantina | |
| 700 | 1 | _aCano, Aline | |
| 700 | 1 | _aPouget, Jean | |
| 700 | 1 | _aPellissier, Jean-François | |
| 700 | 1 | _aProcaccio, Vincent | |
| 700 | 1 | _aChabrol, Brigitte | |
| 700 | 1 | _aPaquis-Flucklinger, Véronique | |
| 773 | 0 |
_tBrain : a journal of neurology _gvol. 135 _gno. Pt 1 _gp. 23-34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/brain/awr323 _zAvailable from publisher's website |
| 999 |
_c21410423 _d21410423 |
||