| 000 | 02742 a2200865 4500 | ||
|---|---|---|---|
| 005 | 20250517123509.0 | ||
| 264 | 0 | _c20170523 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.09.021 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHeimer, Gali | |
| 245 | 0 | 0 |
_aMECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cDec 2016 |
||
| 300 |
_a1229-1244 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBasal Ganglia _xmetabolism |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDystonic Disorders _xgenetics |
| 650 | 0 | 4 |
_aFatty Acids _xbiosynthesis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFibroblasts |
| 650 | 0 | 4 | _aGenetic Complementation Test |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondria _xmetabolism |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy _xgenetics |
| 650 | 0 | 4 |
_aOxidoreductases Acting on CH-CH Group Donors _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aSaccharomyces cerevisiae _xgenetics |
| 700 | 1 | _aKerätär, Juha M | |
| 700 | 1 | _aRiley, Lisa G | |
| 700 | 1 | _aBalasubramaniam, Shanti | |
| 700 | 1 | _aEyal, Eran | |
| 700 | 1 | _aPietikäinen, Laura P | |
| 700 | 1 | _aHiltunen, J Kalervo | |
| 700 | 1 | _aMarek-Yagel, Dina | |
| 700 | 1 | _aHamada, Jeffrey | |
| 700 | 1 | _aGregory, Allison | |
| 700 | 1 | _aRogers, Caleb | |
| 700 | 1 | _aHogarth, Penelope | |
| 700 | 1 | _aNance, Martha A | |
| 700 | 1 | _aShalva, Nechama | |
| 700 | 1 | _aVeber, Alvit | |
| 700 | 1 | _aTzadok, Michal | |
| 700 | 1 | _aNissenkorn, Andreea | |
| 700 | 1 | _aTonduti, Davide | |
| 700 | 1 | _aRenaldo, Florence | |
| 700 | 1 | _aKraoua, Ichraf | |
| 700 | 1 | _aPanteghini, Celeste | |
| 700 | 1 | _aValletta, Lorella | |
| 700 | 1 | _aGaravaglia, Barbara | |
| 700 | 1 | _aCowley, Mark J | |
| 700 | 1 | _aGayevskiy, Velimir | |
| 700 | 1 | _aRoscioli, Tony | |
| 700 | 1 | _aSilberstein, Jonathon M | |
| 700 | 1 | _aHoffmann, Chen | |
| 700 | 1 | _aRaas-Rothschild, Annick | |
| 700 | 1 | _aTiranti, Valeria | |
| 700 | 1 | _aAnikster, Yair | |
| 700 | 1 | _aChristodoulou, John | |
| 700 | 1 | _aKastaniotis, Alexander J | |
| 700 | 1 | _aBen-Zeev, Bruria | |
| 700 | 1 | _aHayflick, Susan J | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 99 _gno. 6 _gp. 1229-1244 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.09.021 _zAvailable from publisher's website |
| 999 |
_c26580819 _d26580819 |
||