Browsing by Author "Hardiman, Orla"
Now showing items 1-20 of 48
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Acceptance and decision making in amyotrophic lateral sclerosis from a life-course perspective
Timonen, Virpi; Foley, Geraldine; Hardiman, Orla (2014)Researchers have explored perceptions of health care services among people with amyotrophic lateral sclerosis (ALS), but little is known about how and why people with ALS engage with services. We undertook a grounded theory ... -
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Hardiman, Orla (2018)Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are ... -
ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS
Hardiman, Orla; Pender, Niall (2018)Objective: To elucidate the relationship between disease stage in amyotrophic lateral sclerosis (ALS), as measured with the King's Clinical Staging System, and cognitive and behavioral change, measured with the Edinburgh ... -
ALSUntangled 38: L-serine
Hardiman, Orla (Informa Healthcare, 2017)Serine is a ‘‘non-essential’’ amino acid which humans can synthesise (2). Serine exists in 2 forms: L-serine and its mirror image D-serine. L-serine is used in making proteins, while D-serine has ... -
Amyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms
Hardiman, Orla (BMC, 2017)Amyotrophic lateral sclerosis, a devastating neurodegenerative disease, is characterized by the progressive loss of motor neurons and the accumulation of misfolded protein aggregates. The latter suggests impaired proteostasis ... -
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Rooney, James; Hardiman, Orla; Mc Laughlin, Russell (American Medical Association, 2016)Importance: Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a significant proportion of patients survive more ... -
Building a supportive framework for brain research in Ireland: Inaugural position paper of the Irish Brain Council
Hardiman, Orla; Mitchell, Kevin; Pender, Niall (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 ... -
Caregiving in ALS - A mixed methods approach to the study of Burden
Hardiman, Orla; Galvin, Miriam (2016)Background Caregiver burden affects the physical, psychological and emotional well-being of the caregiver. The purpose of this analysis was to describe an informal caregiver cohort (n = 81), their subjective assessment ... -
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Hardiman, Orla (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 ... -
Detection of long repeat expansions from PCR-free whole-genome sequence data
Mc Laughlin, Russell; Hardiman, Orla (2017)Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) andfragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A solution ... -
Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016
Hardiman, Orla; Mc Laughlin, Russell; Pender, Niall (2018)Objective: To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment. Methods: Population-based data collected ... -
Dysfunction of attention switching networks in amyotrophic lateral sclerosis.
Bede, Peter; Hardiman, Orla; Lalor, Edmund (2019)Objective: To localise and characterise changes in cognitive networks in Amyotrophic Lateral Sclerosis (ALS) using source analysis of mismatch negativity (MMN) waveforms. Rationale: The MMN waveform has an increased average ... -
ECAS A-B-C: alternate forms of the Edinburgh Cognitive and Behavioural ALS Screen
Hardiman, Orla (2018)Background: The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is a short assessment by which neuropsychological symptoms can be detected and quantified in people with ALS. To avoid potential practice effects with ... -
The effects of a home-based arm ergometry exercise programme on physical fitness, fatigue and activity in polio survivors: Protocol for a randomised controlled trial
Hardiman, Orla; Meldrum, Dara (2012)Many Polio survivors have reduced mobility, pain and fatigue, which make access to conventional forms of aerobic exercise difficult. Inactivity leads to increased risk of health problems, many of which are prevalent among ... -
Estimation of coherence using the median is robust against EEG artefacts
Mahadeva Iyer, Parameswaran; Mohr, Kieran; Nasseroleslami, Bahman; Hardiman, Orla; Lalor, Edmund C.; Dukic, Stefan (2017)Coherence is a mathematical measure of correlation in the frequency domain, commonly used to quantify the oscillatory synchrony of bio-signals such as the electroencephalogram (EEG). In biomedical applications, such as ... -
Exerting control and adapting to loss in amyotrophic lateral sclerosis
Foley, Geraldine; Hardiman, Orla; Timonen, Virpi (2014) -
Experience of services as a key outcome in amyotrophic lateral sclerosis (ALS) care. The case for a better understanding of patient experiences
Timonen, Virpi; Foley, Geraldine; Hardiman, Orla (2012)People with amyotrophic lateral sclerosis (ALS) frequently express dissatisfaction with services. Patient satisfaction with services in ALS is not always measured and service user perspectives are not usually included when ... -
From first symptoms to diagnosis of amyotrophic lateral sclerosis: Perspectives of an Irish informal caregiver cohort - A thematic analysis
Hardiman, Orla; Galvin, Miriam (2017)Objectives: Informal caregivers play an integral part in the management of amyotrophic lateral sclerosis (ALS). The objective of this study was to explore the journey from first problem symptoms to diagnosis from the ... -
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
Mc Laughlin, Russell; Corvin, Aiden; Hardiman, Orla; Bradley, Daniel (2017)We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the ... -
Genetic screening in sporadic ALS and FTD
Hardiman, Orla (2017)The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed ...