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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 ...
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 ...
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 ...
Estimation of coherence using the median is robust against EEG artefacts
(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 ...
Virtual brain biopsies in amyotrophic lateral sclerosis: diagnostic classification based on in vivo pathological patterns
(2017)
Background:
Diagnostic uncertainty in ALS has serious management implications and delays recruitment into clinical trials. Emerging evidence of presymptomatic disease-burden provides the rationale to develop diagnostic ...
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 ...
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 ...
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 ...
From first symptoms to diagnosis of amyotrophic lateral sclerosis: Perspectives of an Irish informal caregiver cohort - A thematic analysis
(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 ...