2 documents found, page 1 of 1
TBK1 mutation spectrum in an extended European patient cohort with frontotempor...
van der Zee, Julie; Gijselinck, Ilse; Van Mossevelde, Sara; Perrone, Federica; Dillen, Lubina; Heeman, Bavo; Bäumer, Veerle; Engelborghs, SebastiaanWe investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring...
Biochemical and Biophysical Investigation of Surfactant in Neonatal Gastric Asp...
Bangyozova, Maya; Jordanova, Albena; Tsanova, Asya; Jekova, Neli; Chakarov, Decho; Doumanov, Jordan; Christova, Emilia; Lalchev, ZdravkoBackground: The optimal approach to detection of surfactant deficiency in the prematurely born infants at birth remains unclear and the decision to apply exogenous surfactant is based mainly on the development of clinical and radiological signs of neonatal respiratory distress syndrome (NRDS). Objectives: We studied the biochemical and biophysical properties of gastric aspirates (GA) from prematurely born infan...