Clinical Medicine (Scholarly Publications): Recent submissions
Now showing items 201-220 of 648
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Needs of informal caregivers across the caregiving course in amyotrophic lateral sclerosis: a qualitative analysis
(2018)Objectives: Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a debilitating terminal condition. Informal caregivers are key figures in ALS care provision. The physical, psychological and ... -
Reconsidering the causality of TIA1 mutations in ALS
(2018)T-cell-restricted intracellular antigen-1 (TIA1) has been recently reported as a novel amyotrophic lateral sclerosis (ALS) related gene, and has already been adopted in a resource frequently used in ... -
Amyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms
(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 ... -
Measuring reliable change in cognition using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)
(2018)Background: Cognitive impairment affects approximately 50% of people with amyotrophic lateral sclerosis (ALS). Research has indicated that impairment may worsen with disease progression. The Edinburgh Cognitive and Behavioural ... -
ECAS A-B-C: alternate forms of the Edinburgh Cognitive and Behavioural ALS Screen
(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 path to specialist multidisciplinary care in amyotrophic lateral sclerosis: A population- based study of consultations, interventions and costs.
(2017)Background: Amyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be ... -
Referral bias in ALS epidemiological studies
(2018)Background: Despite concerns about the representativeness of patients from ALS tertiary centers as compared to the ALS general population, the extent of referral bias in clinical studies remains largely unknown. Using data ... -
ALSUntangled 38: L-serine
(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 ... -
Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016
(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 ... -
The life expectancy of Stephen Hawking, according to the ENCALS model
(2018)Stephen W Hawking, one of the most famous physicists, died on March 14, 2018, at the age of 76 years. Although he was best known for his remarkable work on black holes and quantum gravity, he was also a famous patient with ... -
The multistep hypothesis of ALS revisited
(Wolters Kluwer Health, 2018)Objective: Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large effect mutation might account for≥1 steps ... -
Stratification of amyotrophic lateral sclerosis patients: A crowdsourcing approach
(2019)Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease where substantial heterogeneity in clinical presentation urgently requires a better stratification of patients for the development of drug trials and ... -
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
(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 ... -
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
(Springer Nature, 2018)The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun ... -
ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS
(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 ... -
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
(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 ... -
Global burden of motor neuron diseases: mind the gaps
(2018)According to the International Classification of Diseases ninth (ICD-9) and tenth (ICD-10) editions, the category of motor neuron diseases comprises amyotrophic lateral sclerosis, progressive muscular atrophy, primary ... -
Dysfunction of attention switching networks in amyotrophic lateral sclerosis.
(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 ... -
A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis
(Informa Healthcare, 2019)Objective: To assess the efficacy of tirasemtiv, a fast skeletal muscle troponin activator, vs. placebo in patients with amyotrophic lateral sclerosis. Methods: VITALITY-ALS (NCT02496767) was a multinational, double-blind, ... -
Oral levosimendan in amyotrophic lateral sclerosis: A phase II multicentre, randomised, double-blind, placebo-controlled trial
(2019)Objective: To evaluate the efficacy and safety of oral levosimendan in patients with amyotrophic lateral sclerosis (ALS). This phase II, randomised, double-blind, placebo-controlled, crossover, three-period study with 6 ...
