| 000 | 03645 a2201165 4500 | ||
|---|---|---|---|
| 005 | 20250518073635.0 | ||
| 264 | 0 | _c20210517 | |
| 008 | 202105s 0 0 eng d | ||
| 022 | _a1432-0533 | ||
| 024 | 7 |
_a10.1007/s00401-019-02109-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPerenthaler, Elena | |
| 245 | 0 | 0 |
_aLoss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. _h[electronic resource] |
| 260 |
_bActa neuropathologica _c03 2020 |
||
| 300 |
_a415-442 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBrain Diseases _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEpileptic Syndromes _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Essential _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aUTP-Glucose-1-Phosphate Uridylyltransferase _xgenetics |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aNikoncuk, Anita | |
| 700 | 1 | _aYousefi, Soheil | |
| 700 | 1 | _aBerdowski, Woutje M | |
| 700 | 1 | _aAlsagob, Maysoon | |
| 700 | 1 | _aCapo, Ivan | |
| 700 | 1 | _avan der Linde, Herma C | |
| 700 | 1 | _avan den Berg, Paul | |
| 700 | 1 | _aJacobs, Edwin H | |
| 700 | 1 | _aPutar, Darija | |
| 700 | 1 | _aGhazvini, Mehrnaz | |
| 700 | 1 | _aAronica, Eleonora | |
| 700 | 1 | _avan IJcken, Wilfred F J | |
| 700 | 1 | _ade Valk, Walter G | |
| 700 | 1 | _aMedici-van den Herik, Evita | |
| 700 | 1 | _avan Slegtenhorst, Marjon | |
| 700 | 1 | _aBrick, Lauren | |
| 700 | 1 | _aKozenko, Mariya | |
| 700 | 1 | _aKohler, Jennefer N | |
| 700 | 1 | _aBernstein, Jonathan A | |
| 700 | 1 | _aMonaghan, Kristin G | |
| 700 | 1 | _aBegtrup, Amber | |
| 700 | 1 | _aTorene, Rebecca | |
| 700 | 1 | _aAl Futaisi, Amna | |
| 700 | 1 | _aAl Murshedi, Fathiya | |
| 700 | 1 | _aMani, Renjith | |
| 700 | 1 | _aAl Azri, Faisal | |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _aMojarrad, Majid | |
| 700 | 1 | _aEslahi, Atieh | |
| 700 | 1 | _aKhazaei, Zaynab | |
| 700 | 1 | _aDarmiyan, Fateme Massinaei | |
| 700 | 1 | _aDoosti, Mohammad | |
| 700 | 1 | _aKarimiani, Ehsan Ghayoor | |
| 700 | 1 | _aVandrovcova, Jana | |
| 700 | 1 | _aZafar, Faisal | |
| 700 | 1 | _aRana, Nuzhat | |
| 700 | 1 | _aKandaswamy, Krishna K | |
| 700 | 1 | _aHertecant, Jozef | |
| 700 | 1 | _aBauer, Peter | |
| 700 | 1 | _aAlMuhaizea, Mohammed A | |
| 700 | 1 | _aSalih, Mustafa A | |
| 700 | 1 | _aAldosary, Mazhor | |
| 700 | 1 | _aAlmass, Rawan | |
| 700 | 1 | _aAl-Quait, Laila | |
| 700 | 1 | _aQubbaj, Wafa | |
| 700 | 1 | _aCoskun, Serdar | |
| 700 | 1 | _aAlahmadi, Khaled O | |
| 700 | 1 | _aHamad, Muddathir H A | |
| 700 | 1 | _aAlwadaee, Salem | |
| 700 | 1 | _aAwartani, Khalid | |
| 700 | 1 | _aDababo, Anas M | |
| 700 | 1 | _aAlmohanna, Futwan | |
| 700 | 1 | _aColak, Dilek | |
| 700 | 1 | _aDehghani, Mohammadreza | |
| 700 | 1 | _aMehrjardi, Mohammad Yahya Vahidi | |
| 700 | 1 | _aGunel, Murat | |
| 700 | 1 | _aErcan-Sencicek, A Gulhan | |
| 700 | 1 | _aPassi, Gouri Rao | |
| 700 | 1 | _aCheema, Huma Arshad | |
| 700 | 1 | _aEfthymiou, Stephanie | |
| 700 | 1 | _aHoulden, Henry | |
| 700 | 1 | _aBertoli-Avella, Aida M | |
| 700 | 1 | _aBrooks, Alice S | |
| 700 | 1 | _aRetterer, Kyle | |
| 700 | 1 | _aMaroofian, Reza | |
| 700 | 1 | _aKaya, Namik | |
| 700 | 1 | _avan Ham, Tjakko J | |
| 700 | 1 | _aBarakat, Tahsin Stefan | |
| 773 | 0 |
_tActa neuropathologica _gvol. 139 _gno. 3 _gp. 415-442 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00401-019-02109-6 _zAvailable from publisher's website |
| 999 |
_c30403993 _d30403993 |
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