Results 141 to 150 of about 6,302 (179)
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I14 Phenotypic and genotypic diagnosis of von Willebrand Disease
Blood Reviews, 2007In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to ...
U. Budde, R. Schneppenheim
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Engineering Challenges on the I14 Nanoprobe Beamline
2017An overview of the double branch 185m I14 Nano-probe beam-line under construction at DLS will be presented together with the end-station design in further detail. The end station consists of a split vacuum vessel containing a KB mirror configuration (at UHV) and the sample environment (at HV) which is just 50mm from the end of the final KB optic. An in-
Peach, Andrew +3 more
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I14 Sleep Related Breathing Disorders In Moderate And Advanced Huntington Disease
Journal of Neurology, Neurosurgery & Psychiatry, 2014Background Sleep related breathing disorders (SRBD) are a risk factor for cardiovascular diseases and decrease the quality of life and performance due to nonrestorative sleep. SRBD are more frequent in a number of neurodegenerative disorders like multiple system atrophy or amyotrophic lateral sclerosis.
J. Antczak +6 more
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I14 Translational potential of cholesterol supplementation-based strategies for huntington’s disease
Experimental therapeutics – preclinical, 2018There are numerous studies showing a reduction in cholesterol biosynthesis in the brain of different HD animal models of HD since pre-symptomatic stages, with the striatum being more affected compared to other brain tissues (Valenza et al., 2005; 2007; 2010; Shankaran et al., 2017).
Marta Valenza +9 more
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I14 Primary laparoscopic-assisted endorectal pull-through
2013Single stage pull-through for Hirschsprung’s Disease has gained in popularity since its introduction in 1980 and is suitable for left-sided disease where colonic decompression can be achieved with rectal washouts. A defunctioning stoma may be required if adequate decompression is not achieved, in cases of severe enterocolitis, perforation or long ...
Tim J. Bradnock, Gregor M. Walker
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I14 Metabolic regulation of IL-1beta transcription
Cytokine, 2012In the field of inflammation research, the most important advances in the past 10 years has been in the uncovering of multiple pathways involved in innate immunity. The best characterised involve the Toll-like receptors (TLRs) and NOD-like receptors (NLRs).
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Biochemical Pharmacology, 2017
Many traditional medicines are of plant origin and are made up of extracts from multiple plants. As a result, identifying the key bioactives in these mixtures and their mode of action is a difficult process. Generally, the approach to this problem has been one of fractionation and testing of individual compounds from these mixtures. However, very often,
Jian Cui +4 more
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Many traditional medicines are of plant origin and are made up of extracts from multiple plants. As a result, identifying the key bioactives in these mixtures and their mode of action is a difficult process. Generally, the approach to this problem has been one of fractionation and testing of individual compounds from these mixtures. However, very often,
Jian Cui +4 more
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Journal of Neurology, Neurosurgery & Psychiatry, 2016
Background and aim We aimed to compare different statistical methods for predicting clinical progression, among individuals with Huntington’s disease (HD). Methods We compared the following methods: (1) Multiple Linear Regression, (2) Linear Mixed Models with different covariance structures (no correlation, autoregressive(AR)), and (3) Transition ...
Jack Hywood +4 more
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Background and aim We aimed to compare different statistical methods for predicting clinical progression, among individuals with Huntington’s disease (HD). Methods We compared the following methods: (1) Multiple Linear Regression, (2) Linear Mixed Models with different covariance structures (no correlation, autoregressive(AR)), and (3) Transition ...
Jack Hywood +4 more
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Cancer Research, 2019
Abstract Recent genomic characterization of PDA reveals that between 20-25 % of PDA harbor recurrent mutations in genes, including BRCA1/2, PALB2, and ATM, which are critical for homologous recombination (HR), an important form of DNA repair. In many patients, these may be germline mutations.
Annie Wang +9 more
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Abstract Recent genomic characterization of PDA reveals that between 20-25 % of PDA harbor recurrent mutations in genes, including BRCA1/2, PALB2, and ATM, which are critical for homologous recombination (HR), an important form of DNA repair. In many patients, these may be germline mutations.
Annie Wang +9 more
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