000 01990 a2200565 4500
005 20250518020127.0
264 0 _c20200206
008 202002s 0 0 eng d
022 _a1460-2083
024 7 _a10.1093/hmg/ddz008
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLarrea, Delfina
245 0 0 _aMFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
_h[electronic resource]
260 _bHuman molecular genetics
_c06 2019
300 _a1782-1800 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 _aAdult
650 0 4 _aCharcot-Marie-Tooth Disease
_xgenetics
650 0 4 _aEndoplasmic Reticulum
_xgenetics
650 0 4 _aEnergy Metabolism
_xgenetics
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aGTP Phosphohydrolases
_xgenetics
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMitochondria
_xgenetics
650 0 4 _aMitochondrial Dynamics
_xgenetics
650 0 4 _aMitochondrial Membranes
_xmetabolism
650 0 4 _aMitochondrial Proteins
_xgenetics
650 0 4 _aMutation
650 0 4 _aOxidative Phosphorylation
650 0 4 _aSeverity of Illness Index
700 1 _aPera, Marta
700 1 _aGonnelli, Adriano
700 1 _aQuintana-Cabrera, Rubén
700 1 _aAkman, H Orhan
700 1 _aGuardia-Laguarta, Cristina
700 1 _aVelasco, Kevin R
700 1 _aArea-Gomez, Estela
700 1 _aDal Bello, Federica
700 1 _aDe Stefani, Diego
700 1 _aHorvath, Rita
700 1 _aShy, Michael E
700 1 _aSchon, Eric A
700 1 _aGiacomello, Marta
773 0 _tHuman molecular genetics
_gvol. 28
_gno. 11
_gp. 1782-1800
856 4 0 _uhttps://doi.org/10.1093/hmg/ddz008
_zAvailable from publisher's website
999 _c29260355
_d29260355