Browsing by Subject "Amyotrophic lateral sclerosis (ALS)"
Now showing items 1-20 of 29
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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 ... -
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 ... -
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 ... -
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 ... -
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 ... -
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 ... -
Cognitive reserve in amyotrophic lateral sclerosis (ALS): a population-based longitudinal study.
(2021)Background Amyotrophic lateral sclerosis (ALS) is often associated with cognitive and/or behavioural impairment. Cognitive reserve (CR) may play a protective role in offsetting cognitive impairment. This study examined the ... -
Detection of long repeat expansions from PCR-free whole-genome sequence data
(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
(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.
(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 ... -
Genetic screening in sporadic ALS and FTD
(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 ... -
Genetic testing in ALS: A survey of current practices
(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 ... -
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 ... -
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 ... -
July 2017 ENCALS statement on edaravone
(2017)Neurologists of the ENCALS centers throughout Europe have discussed the potential of edaravone as anew therapy for amyotrophic lateral sclerosis (ALS,Motor Neuron Disease, MND) at the ENCALS meeting, 18–20 May 2017, in ... -
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 ... -
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 ... -
Mismatch Negativity as an Indicator of Cognitive Sub-Domain Dysfunction in Amyotrophic Lateral Sclerosis
(2017)Objective: To evaluate the utility of mismatch negativity (MMN), a neurophysiologic marker of non-motor cognitive processing, in amyotrophic lateral sclerosis (ALS). Methods: 89 patients, stratified into 4 different ... -
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 ... -
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. ...