| 000 | 02845 a2200949 4500 | ||
|---|---|---|---|
| 005 | 20250517024638.0 | ||
| 264 | 0 | _c20150706 | |
| 008 | 201507s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.3256 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAkizu, Naiara | |
| 245 | 0 | 0 |
_aBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. _h[electronic resource] |
| 260 |
_bNature genetics _cMay 2015 |
||
| 300 |
_a528-34 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aAtrophy _xgenetics |
| 650 | 0 | 4 | _aAutophagy |
| 650 | 0 | 4 |
_aCerebellar Diseases _xgenetics |
| 650 | 0 | 4 |
_aCerebellum _xpathology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 |
_aLysosomal Storage Diseases _xgenetics |
| 650 | 0 | 4 |
_aLysosomes _xmetabolism |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhagosomes _xmetabolism |
| 650 | 0 | 4 |
_aSorting Nexins _xgenetics |
| 650 | 0 | 4 |
_aSpinocerebellar Ataxias _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aCantagrel, Vincent | |
| 700 | 1 | _aZaki, Maha S | |
| 700 | 1 | _aAl-Gazali, Lihadh | |
| 700 | 1 | _aWang, Xin | |
| 700 | 1 | _aRosti, Rasim Ozgur | |
| 700 | 1 | _aDikoglu, Esra | |
| 700 | 1 | _aGelot, Antoinette Bernabe | |
| 700 | 1 | _aRosti, Basak | |
| 700 | 1 | _aVaux, Keith K | |
| 700 | 1 | _aScott, Eric M | |
| 700 | 1 | _aSilhavy, Jennifer L | |
| 700 | 1 | _aSchroth, Jana | |
| 700 | 1 | _aCopeland, Brett | |
| 700 | 1 | _aSchaffer, Ashleigh E | |
| 700 | 1 | _aGordts, Philip L S M | |
| 700 | 1 | _aEsko, Jeffrey D | |
| 700 | 1 | _aBuschman, Matthew D | |
| 700 | 1 | _aField, Seth J | |
| 700 | 1 | _aNapolitano, Gennaro | |
| 700 | 1 | _aAbdel-Salam, Ghada M | |
| 700 | 1 | _aOzgul, R Koksal | |
| 700 | 1 | _aSagıroglu, Mahmut Samil | |
| 700 | 1 | _aAzam, Matloob | |
| 700 | 1 | _aIsmail, Samira | |
| 700 | 1 | _aAglan, Mona | |
| 700 | 1 | _aSelim, Laila | |
| 700 | 1 | _aMahmoud, Iman G | |
| 700 | 1 | _aAbdel-Hadi, Sawsan | |
| 700 | 1 | _aBadawy, Amera El | |
| 700 | 1 | _aSadek, Abdelrahim A | |
| 700 | 1 | _aMojahedi, Faezeh | |
| 700 | 1 | _aKayserili, Hulya | |
| 700 | 1 | _aMasri, Amira | |
| 700 | 1 | _aBastaki, Laila | |
| 700 | 1 | _aTemtamy, Samia | |
| 700 | 1 | _aMüller, Ulrich | |
| 700 | 1 | _aDesguerre, Isabelle | |
| 700 | 1 | _aCasanova, Jean-Laurent | |
| 700 | 1 | _aDursun, Ali | |
| 700 | 1 | _aGunel, Murat | |
| 700 | 1 | _aGabriel, Stacey B | |
| 700 | 1 | _ade Lonlay, Pascale | |
| 700 | 1 | _aGleeson, Joseph G | |
| 773 | 0 |
_tNature genetics _gvol. 47 _gno. 5 _gp. 528-34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3256 _zAvailable from publisher's website |
| 999 |
_c24780279 _d24780279 |
||