Browsing by Author "HARDIMAN, ORLA"
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23. Lessons of ALS imaging: Pitfalls and future directions - A critical review.
HARDIMAN, ORLA; BEDE, PETER (2014)Stereotypical shortcomings can be identified in ALS neuroimaging studies. • A systematic discussion of ALS study limitations is particularly timely. • Individual patient data meta-analyses and multicentre ... -
Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study
ROONEY, JAMES; HARDIMAN, ORLA (2014)Background Amyotrophic lateral sclerosis shares characteristics with some cancers, such as onset being more common in later life, progression usually being rapid, the disease affecting a particular cell type, and showing ... -
Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample.
MORRIS, DEREK; BRADLEY, DANIEL; DONOHOE, GARY; GILL, MICHAEL; CORVIN, AIDEN; FAHEY, CIARA; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL (2014)The hexonucleotide repeat expansion 'GGGGCC' at the C9ORF72 gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia. There is some evidence for clinical and genetic overlap between ... -
Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis
PHUKAN, JULIE; BRADLEY, DANIEL; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL; MCLAUGHLIN, RUSSELL (2010)Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic ... -
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
HARDIMAN, ORLA; CORVIN, AIDEN; MORRIS, DEREK; MCLAUGHLIN, RUSSELL; KENNY, ELAINE (2013) -
Development of an automated MRI-based diagnostic protocol for amyotrophic lateral sclerosis using disease-specific pathognomonic features: A quantitative disease-state classification study
HARDIMAN, ORLA (2016)Background Despite significant advances in quantitative neuroimaging, the diagnosis of ALS remains clinical and MRI-based biomarkers are not currently used to aid the diagnosis. The objective of this study is to develop ... -
An Exploratory Spatial Analysis of ALS Incidence in Ireland over 17.5 Years (1995 - July 2013)
ROONEY, JAMES; VAJDA, ALICE; HARDIMAN, ORLA (2014)Abstract Introduction There has been much interest in spatial analysis of ALS to identify potential environmental or genetically caused clusters of disease. Results to date have been inconclusive. The Irish ALS register ... -
First-in-class thyrotropin-releasing hormone (TRH)-based compound binds to a pharmacologically distinct TRH receptor subtype in human brain and is effective in neurodegenerative models.
WALSH, CATHAL; TIPTON, KEITH; KELLY, JULIE; HARDIMAN, ORLA; O'MARA, SHANE; CAMPBELL, MATTHEW; VAJDA, ALICE; GOBBO, OLIVIERO (2015) -
Functional connectivity changes in resting-state EEG as potential biomarker for Amyotrophic Lateral Sclerosis
HARDIMAN, ORLA; PENDER, NIALL (2015)Background Amyotrophic Lateral Sclerosis (ALS) is heterogeneous and overlaps with frontotemporal dementia. Spectral EEG can predict damage in structural and functional networks in frontotemporal dementia but has never ... -
Genetic effects influencing risk for major depressive disorder in China and Europe
HARDIMAN, ORLA; GILL, MICHAEL; Bigdeli, T.B.; Ripke, S.; Peterson, R.E.; Trzaskowski, M.; Bacanu, S.-A.; Abdellaoui, A.; Andlauer, T.F.M.; Beekman, A.T.F.; Berger, K.; Blackwood, D.H.R.; Bloomsma, D.I.; Breen, G.; Buttenschøn, H.N.; Byrne, E.M.; Cichon, S.; Clarke, T.-K.; Couvy-Duchesne, B.; Craddock, N.; de Geus, E.J.C.; Degenhardt, F.; Dunn, E.C.; Edwards, A.C.; Fanous, A.H.; Forstner, A.J.; Frank, J.; Gill, M.; Gordon, S.D.; Grabe, H.J.; Hamilton, S.P.; Hayward, C.; Heath, A.C.; Henders, A.K.; Herms, S.; Hickie, I.B.; Hoffman, P.; Homuth, G.; Hottenga, J.-J.; Ising, M.; Jansen, R.; CONVERGE consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2017)Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30–40%), extensive heterogeneity and a complex ... -
Genetic testing in ALS: A survey of current practices
MCLAUGHLIN, RUSSELL; HARDIMAN, ORLA; Vajda, Alice; Heverin, Mark; Thorpe, Owen; Abrahams, Sharon; Al-Chalabi, Ammar (2017)Objective: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. Methods: ALS researchers ... -
Genomic signals of migration and continuity in Britain before the Anglo-Saxons
BRADLEY, DANIEL; HARDIMAN, ORLA; MCLAUGHLIN, RUSSELL (2016)The purported migrations that have formed the peoples of Britain have been the focus of generations of scholarly controversy. However, this has not benefited from direct analyses of ancient genomes. Here we report nine ... -
Lessons of ALS imaging: Pitfalls and future directions - A critical review
BEDE, PETER; HARDIMAN, ORLA (2014)Background: While neuroimaging in ALS has gained unprecedented momentum in recent years, little progress has been made in the development of viable diagnostic, prognostic and monitoring markers. Objectives: To identify ... -
Measurement of Social Cognition in Amyotrophic Lateral Sclerosis: A Population Based Study
BEDE, PETER; PENDER, NIALL; HARDIMAN, ORLA (2016)Background: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease. Executive dysfunction is common in patients with ALS, with up to 50% of patients performing within an impaired range. ... -
Methodology and Design of a National Epidemiological Study on Adult Neuromuscular Disease
HARDIMAN, ORLA (2014)Background: There have been no previous population- based studies of adult neuromuscular disease (NMD) in the Republic of Ireland (RoI). This article describes methods and case-ascertainment strategies used to identify ... -
Multiparametric MRI study of ALS stratified for the C9orf72 genotype
HARDIMAN, ORLA; PENDER, NIALL; MCLAUGHLIN, RUSSELL (2013)Objective: To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. Methods: A prospective, single-center, single-protocol, gray and ... -
On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia
BOKDE, ARUN LAWRENCE WARREN; BEDE, PETER; HAMPEL, HARALD; HARDIMAN, ORLA (Elsevier, 2011)Pathological 43-kDa transactive responsive sequence DNA-binding protein (TDP-43) has been recognized as the major disease protein in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin ... -
Palliative care in amyotrophic lateral sclerosis: a review of current international guidelines and initiatives
HARDIMAN, ORLA (BMJ, 2011)Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative condition. Optimal management requires a palliative approach from diagnosis with emphasis on patient autonomy, dignity and ... -
Patterns of cerebral and cerebellar white matter degeneration in ALS.
HARDIMAN, ORLA; BEDE, PETER; BRADLEY, DANIEL (2015) -
Physical Activity and Amyotrophic Lateral Sclerosis: A European Population-Based Case Control Study
HARDIMAN, ORLA; ROONEY, JAMES (2014)OBJECTIVE: To assess whether physical activity is a risk factor for amyotrophic lateral sclerosis (ALS). METHODS: From February 2008 to April 2012, 652 patients with ALS from European population-based registries ...