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