| 000 | 03081 a2200925 4500 | ||
|---|---|---|---|
| 005 | 20250516184950.0 | ||
| 264 | 0 | _c20140325 | |
| 008 | 201403s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.2851 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLogan, Clare V | |
| 245 | 0 | 0 |
_aLoss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. _h[electronic resource] |
| 260 |
_bNature genetics _cFeb 2014 |
||
| 300 |
_a188-93 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnalysis of Variance |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCalcium Channels _xmetabolism |
| 650 | 0 | 4 |
_aCalcium Signaling _xgenetics |
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 |
_aExtrapyramidal Tracts _xpathology |
| 650 | 0 | 4 | _aFluorescent Antibody Technique |
| 650 | 0 | 4 | _aHistological Techniques |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 |
_aLearning Disabilities _xgenetics |
| 650 | 0 | 4 |
_aMembrane Potential, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aMitochondria _xmetabolism |
| 650 | 0 | 4 |
_aMitochondrial Membrane Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMovement Disorders _xgenetics |
| 650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aQuadriceps Muscle _xpathology |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aSzabadkai, György | |
| 700 | 1 | _aSharpe, Jenny A | |
| 700 | 1 | _aParry, David A | |
| 700 | 1 | _aTorelli, Silvia | |
| 700 | 1 | _aChilds, Anne-Marie | |
| 700 | 1 | _aKriek, Marjolein | |
| 700 | 1 | _aPhadke, Rahul | |
| 700 | 1 | _aJohnson, Colin A | |
| 700 | 1 | _aRoberts, Nicola Y | |
| 700 | 1 | _aBonthron, David T | |
| 700 | 1 | _aPysden, Karen A | |
| 700 | 1 | _aWhyte, Tamieka | |
| 700 | 1 | _aMunteanu, Iulia | |
| 700 | 1 | _aFoley, A Reghan | |
| 700 | 1 | _aWheway, Gabrielle | |
| 700 | 1 | _aSzymanska, Katarzyna | |
| 700 | 1 | _aNatarajan, Subaashini | |
| 700 | 1 | _aAbdelhamed, Zakia A | |
| 700 | 1 | _aMorgan, Joanne E | |
| 700 | 1 | _aRoper, Helen | |
| 700 | 1 | _aSanten, Gijs W E | |
| 700 | 1 | _aNiks, Erik H | |
| 700 | 1 | _avan der Pol, W Ludo | |
| 700 | 1 | _aLindhout, Dick | |
| 700 | 1 | _aRaffaello, Anna | |
| 700 | 1 | _aDe Stefani, Diego | |
| 700 | 1 | _aden Dunnen, Johan T | |
| 700 | 1 | _aSun, Yu | |
| 700 | 1 | _aGinjaar, Ieke | |
| 700 | 1 | _aSewry, Caroline A | |
| 700 | 1 | _aHurles, Matthew | |
| 700 | 1 | _aRizzuto, Rosario | |
| 700 | 1 | _aDuchen, Michael R | |
| 700 | 1 | _aMuntoni, Francesco | |
| 700 | 1 | _aSheridan, Eamonn | |
| 773 | 0 |
_tNature genetics _gvol. 46 _gno. 2 _gp. 188-93 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.2851 _zAvailable from publisher's website |
| 999 |
_c23365328 _d23365328 |
||