000 | 02144 a2200637 4500 | ||
---|---|---|---|
005 | 20250517195014.0 | ||
264 | 0 | _c20190627 | |
008 | 201906s 0 0 eng d | ||
022 | _a1460-2156 | ||
024 | 7 |
_a10.1093/brain/awx369 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRebelo, Adriana P | |
245 | 0 | 0 |
_aSCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. _h[electronic resource] |
260 |
_bBrain : a journal of neurology _c03 2018 |
||
300 |
_a662-672 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. | ||
650 | 0 | 4 |
_aAdenosine Triphosphate _xmetabolism |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 |
_aAxons _xpathology |
650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
650 | 0 | 4 | _aCells, Cultured |
650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xcomplications |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aCopper _xdeficiency |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aElectron Transport Complex IV _xmetabolism |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aFibroblasts _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMice |
650 | 0 | 4 | _aMice, Inbred C57BL |
650 | 0 | 4 | _aMice, Transgenic |
650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
650 | 0 | 4 | _aModels, Molecular |
650 | 0 | 4 | _aMolecular Chaperones |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aOxygen Consumption _xgenetics |
650 | 0 | 4 |
_aSciatic Nerve _xmetabolism |
700 | 1 | _aSaade, Dimah | |
700 | 1 | _aPereira, Claudia V | |
700 | 1 | _aFarooq, Amjad | |
700 | 1 | _aHuff, Tyler C | |
700 | 1 | _aAbreu, Lisa | |
700 | 1 | _aMoraes, Carlos T | |
700 | 1 | _aMnatsakanova, Diana | |
700 | 1 | _aMathews, Kathy | |
700 | 1 | _aYang, Hua | |
700 | 1 | _aSchon, Eric A | |
700 | 1 | _aZuchner, Stephan | |
700 | 1 | _aShy, Michael E | |
773 | 0 |
_tBrain : a journal of neurology _gvol. 141 _gno. 3 _gp. 662-672 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1093/brain/awx369 _zAvailable from publisher's website |
999 |
_c27997075 _d27997075 |