Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30 s. All affected relatives had unusually rapid disease progression (on average 3.6 years from disease onset to death). In silico analysis of mutation p.Leu...

J. Villena, M.G. Vizoso-Pinto, V. Rodriguez, S. Salva, S. Alvarez and H. Kitazawa Immunobiotic Research Group Reference Centre for Lactobacilli (CERELA-CONICET). Tucuman, Argentina. INSIBIO-CONICET, Biomedical Department, Faculty of Medicine, National University of Tucumán, Argentina. Institute of Applied Biochemistry, Faculty of Biochemistry and Pharmacy, National University of Tucumán. Tucuma...

Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30s. All affected relatives had unusually rapid disease progression (on average 3.6 years from disease onset to death). In silico analysis of mutation p.Leu(...

*Corresponding author: Cedo D Miljevic, Institute of Mental Health, Palmoticeva 37, 11 000 Belgrade, Serbia, Tel: +381 62 252 317; Fax: +381 11 3239 153; E-mail: [email protected] Received Date: November 11, 2014, Accepted Date: December 15, 2014, Published Date: December 23, 2014 Copyright: © 2015 Cedo D Miljevic, et al., This is an open-access article distributed under the terms of the ...

This work reports on the determination of the acoustic nonlinearity parameter, B/A, from measured sound speed data, in Fluorinert FC-43 at temperatures up to 381 K and pressures up to 13.8 MPa using the thermodynamic method. Sound speed was measured using Swept Frequency Acoustic Interferometry at 11 pressures between ambient and 13.8 MPa along 6 isotherms between ambient and 381 K. Second-orde...

Abstract Linked Article: Kamminga et al. Br J Dermatol 2022; 187:381–391.

the methylotrophic thermo tolerant actinomycete strain 381, was isolated from a compost sample, assimilated methanol during growth. methanol dehydrogenase could not be detected in cell extracts using dye-linked assays in the absence of nad+. dichlorophenol-indophenol-linked methanol oxidation was detected in broken cell suspensions in the presence of nad+ and the absence of cyanide. taxonomic s...

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