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eNauka >  Results >  Loss 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
Title: Loss 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
Authors : Perenthaler, Elena; ...; Capo, Ivan Dj  ; ...; (broj, koautora 69)
Issue Date: 2020
Publication: ACTA NEUROPATHOLOGICA
ISSN: 0001-6322 Acta Neuropathologica Search Idenfier
Publisher: Springer
Type: Article
Collation: vol. 139 br. 3 str. 415-442
DOI: 10.1007/s00401-019-02109-6
WoS-ID: 000515442700001
Scopus-ID: 2-s2.0-85076733845
PMID: 31820119
PMCID: PMC7035241
URI: https://enauka.gov.rs/handle/123456789/806025
Project: Brain and Behavior Research Foundation [NARSAD Young Investigator award]
ZonMW Veni [91617021]
Metadata source: (Preuzeto iz Nasi u WoS)
M-category: 
21a+M21a+

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