| 000 | 01858 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517030249.0 | ||
| 264 | 0 | _c20160428 | |
| 008 | 201604s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddv133 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAngebault, Claire | |
| 245 | 0 | 0 |
_aMutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cJul 2015 |
||
| 300 |
_a3948-55 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aApoptosis Regulatory Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDyskinesias _xgenetics |
| 650 | 0 | 4 |
_aElectron Transport Complex I _xdeficiency |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFollow-Up Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImage Processing, Computer-Assisted |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNADH, NADPH Oxidoreductases _xgenetics |
| 650 | 0 | 4 | _aOpen Reading Frames |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aCharif, Majida | |
| 700 | 1 | _aGuegen, Naig | |
| 700 | 1 | _aPiro-Megy, Camille | |
| 700 | 1 | _aMousson de Camaret, Benedicte | |
| 700 | 1 | _aProcaccio, Vincent | |
| 700 | 1 | _aGuichet, Pierre-Olivier | |
| 700 | 1 | _aHebrard, Maxime | |
| 700 | 1 | _aManes, Gael | |
| 700 | 1 | _aLeboucq, Nicolas | |
| 700 | 1 | _aRivier, François | |
| 700 | 1 | _aHamel, Christian P | |
| 700 | 1 | _aLenaers, Guy | |
| 700 | 1 | _aRoubertie, Agathe | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 24 _gno. 14 _gp. 3948-55 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddv133 _zAvailable from publisher's website |
| 999 |
_c24831010 _d24831010 |
||