Clinical Medicine (Scholarly Publications): Recent submissions
Now showing items 221-240 of 648
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
(Elsevier, 2018)To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant ... -
Measuring network disruption in neurodegenerative diseases: New approaches using signal analysis.
(2019)Advanced neuroimaging has increased understanding of the pathogenesis and spread of disease, and offered new therapeutic targets. MRI and positron emission tomography have shown that neurodegenerative diseases including ... -
Post-polio Syndrome: More Than Just a Lower Motor Neuron Disease
(2019)Post-polio syndrome (PPS) is a neurological condition that affects polio survivors decades after their initial infection. Despite its high prevalence, the etiology of PPS remains elusive, mechanisms of progression are ... -
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis
(2019)Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder without effective neuroprotective therapy. Known genetic variants impair pathways, including RNA processing, axonal transport, and protein homeostasis. ... -
Building a supportive framework for brain research in Ireland: Inaugural position paper of the Irish Brain Council
(Wiley, 2019)The Irish Brain Council is an independent group of organisations which have come together to influence and impact upon brain research in Ireland. The purpose of the Irish Brain Council is to promote ... -
Neurophysiological markers of network dysfunction in neurodegenerative diseases
(Elsevier, 2019)There is strong clinical, imaging and pathological evidence that neurodegeneration is associated with altered brain connectivity. While functional imaging (fMRI) can detect resting and activated states of metabolic activity, ... -
Sequencing of therapy following first-line afatinib in patients with EGFR mutation-positive non-small cell lung cancer
(Elsevier, 2019)Objectives: With the availability of several epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs), sequential therapy could potentially render EGFR mutation-positive non-small cell lung cancer a chronic ... -
Nivolumab plus ipilimumab in non-small-cell lung cancer
(2019)Nivolumab and ipilimumab, two therapeutic immune checkpoint inhibitor antibodies that block PD-1and CTLA-4, respectively, have indications in cancer as single agents and in combination. In this Review, we examine the ... -
Advancing the therapeutic potential of the IL-1 family in inflammatory diseases - Meeting report
(2019)On October 9th 2018 the Trinity College Dublin hosted a workshop forum at the Royal Irish Academy to discuss recent discoveries and current areas of focus in the field of IL‐1 family biology. The aim of this meeting was ... -
Current perspectives on the interleukin-1 family as targets for inflammatory disease.
(2019)Since the first description of interleukin-1 (IL-1) and the genesis of the field of cytokine biology, the understanding of how IL-1 and related cytokines play central orchestrat- ing roles in the inflammatory response has ... -
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
(2016)Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neuro-degenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated ... -
The immunoregulatory role of CD4 +FoxP3 +CD25 - regulatory T cells in lungs of mice infected with Bordetella pertussis
(2012)The identification of regulatory T (Treg) cells was originally based on CD25 expression; however, CD25 is also expressed by activated effector T cells. FoxP3 is a more definitive marker of Treg cells, and CD4 +FoxP3 +CD25 ... -
Data linkage in medical science using the resource description framework: the AVERT model
(2018)There is an ongoing challenge as to how best manage and understand ‘big data’ in precision medicine settings. This paper describes the potential for a Linked Data approach, using a Resource Description Framework (RDF) ...
