| 000 | 02662 a2200841 4500 | ||
|---|---|---|---|
| 005 | 20250517120308.0 | ||
| 264 | 0 | _c20170908 | |
| 008 | 201709s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.3676 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBroix, Loïc | |
| 245 | 0 | 0 |
_aMutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. _h[electronic resource] |
| 260 |
_bNature genetics _c11 2016 |
||
| 300 |
_a1349-1358 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aEndosomal Sorting Complexes Required for Transport _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aNedd4 Ubiquitin Protein Ligases |
| 650 | 0 | 4 |
_aPeriventricular Nodular Heterotopia _xgenetics |
| 650 | 0 | 4 |
_aProtein Domains _xgenetics |
| 650 | 0 | 4 |
_aProto-Oncogene Proteins c-akt _xmetabolism |
| 650 | 0 | 4 | _aSignal Transduction |
| 650 | 0 | 4 |
_aTOR Serine-Threonine Kinases _xmetabolism |
| 650 | 0 | 4 |
_aUbiquitin _xmetabolism |
| 650 | 0 | 4 |
_aUbiquitin-Protein Ligases _xgenetics |
| 700 | 1 | _aJagline, Hélène | |
| 700 | 1 | _aIvanova, Ekaterina | |
| 700 | 1 | _aSchmucker, Stéphane | |
| 700 | 1 | _aDrouot, Nathalie | |
| 700 | 1 | _aClayton-Smith, Jill | |
| 700 | 1 | _aPagnamenta, Alistair T | |
| 700 | 1 | _aMetcalfe, Kay A | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aLouvier, Ulrike Walther | |
| 700 | 1 | _aPoduri, Annapurna | |
| 700 | 1 | _aTaylor, Jenny C | |
| 700 | 1 | _aTilly, Peggy | |
| 700 | 1 | _aPoirier, Karine | |
| 700 | 1 | _aSaillour, Yoann | |
| 700 | 1 | _aLebrun, Nicolas | |
| 700 | 1 | _aStemmelen, Tristan | |
| 700 | 1 | _aRudolf, Gabrielle | |
| 700 | 1 | _aMuraca, Giuseppe | |
| 700 | 1 | _aSaintpierre, Benjamin | |
| 700 | 1 | _aElmorjani, Adrienne | |
| 700 | 1 | _aMoïse, Martin | |
| 700 | 1 | _aWeirauch, Nathalie Bednarek | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aBoland, Anne | |
| 700 | 1 | _aOlaso, Robert | |
| 700 | 1 | _aMasson, Cecile | |
| 700 | 1 | _aTripathy, Ratna | |
| 700 | 1 | _aKeays, David | |
| 700 | 1 | _aBeldjord, Cherif | |
| 700 | 1 | _aNguyen, Laurent | |
| 700 | 1 | _aGodin, Juliette | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aNischké, Patrick | |
| 700 | 1 | _aDeleuze, Jean-François | |
| 700 | 1 | _aBahi-Buisson, Nadia | |
| 700 | 1 | _aSumara, Izabela | |
| 700 | 1 | _aHinckelmann, Maria-Victoria | |
| 700 | 1 | _aChelly, Jamel | |
| 773 | 0 |
_tNature genetics _gvol. 48 _gno. 11 _gp. 1349-1358 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3676 _zAvailable from publisher's website |
| 999 |
_c26476608 _d26476608 |
||