Pamela J. Shaw
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View article: A pilot pathway for penicillin allergy delabelling in liver transplant recipients
A pilot pathway for penicillin allergy delabelling in liver transplant recipients Open
View article: Dynamic modelling of the ALSFRS-R: leveraging population-based scores using neural networks
Dynamic modelling of the ALSFRS-R: leveraging population-based scores using neural networks Open
R McFarlane is supported by a grant from Target ALS, Precision ALS is funded by Taighde Éireann (Research Ireland, formerly Science Foundation Ireland).
View article: M102 activates both NRF2 and HSF1 transcription factor pathways and is neuroprotective in cell and animal models of amyotrophic lateral sclerosis
M102 activates both NRF2 and HSF1 transcription factor pathways and is neuroprotective in cell and animal models of amyotrophic lateral sclerosis Open
View article: Hypothesis-free evaluation of circulating metabolome provides cell-specific insights regarding the role of energy substrate availability in amyotrophic lateral sclerosis
Hypothesis-free evaluation of circulating metabolome provides cell-specific insights regarding the role of energy substrate availability in amyotrophic lateral sclerosis Open
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited therapeutic options. The metabolome comprises small-molecules (typically < 1 kDa) present in biological tissues and fluids, which are the inte…
View article: Creating an engaging brain computer interface, electrical stimulation therapy for children with hemiparesis: a pilot study
Creating an engaging brain computer interface, electrical stimulation therapy for children with hemiparesis: a pilot study Open
Background : Perinatal stroke can lead to lifelong physical disabilities, where even small improvements in motor function can increase quality of life. Rapid brain development in children provides an opportunity to harness brain plasticity…
View article: Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study
Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study Open
Research Ireland (RI) and Biogen have supported the PRECISION ALS programme.
View article: MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis Open
Chronic activation of glial cells leads to the dysfunction and degeneration of motor and cortical neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) with an unknown mechanism. To shed light on the molecular pa…
View article: The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence
The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence Open
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterised by the selective loss of motor neurons in the motor cortex, brainstem and spinal cord. In 1993, the first ALS-linked gene mutations were identifi…
View article: Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS
Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS Open
C9orf72-associated amyotrophic lateral sclerosis (c9ALS) is caused by an intronic G4C2 repeat expansion that leads to toxic RNA transcripts and dipeptide repeat proteins (DPRs). A clinical trial using the antisense ol…
View article: M102 activates both NRF2 and HSF1 transcription factor pathways and is neuroprotective in cell and animal models of amyotrophic lateral sclerosis
M102 activates both NRF2 and HSF1 transcription factor pathways and is neuroprotective in cell and animal models of amyotrophic lateral sclerosis Open
M102 is a central nervous system (CNS) penetrant small molecule electrophile which activates in vivo the NF-E2 p45-related factor 2 - antioxidant response element (NRF2-ARE) pathway, as well as transcription of heat-shock element (HSE) ass…
View article: Glutathione oxidation in cerebrospinal fluid as a biomarker of oxidative stress in amyotrophic lateral sclerosis
Glutathione oxidation in cerebrospinal fluid as a biomarker of oxidative stress in amyotrophic lateral sclerosis Open
View article: Comparison of AAV9-driven motor neuron transduction following different CNS-directed delivery methods in mice
Comparison of AAV9-driven motor neuron transduction following different CNS-directed delivery methods in mice Open
Background Gene therapies are promising for diseases previously considered incurable. Adeno-associated virus serotype 9 (AAV9) demonstrates remarkable tropism for motor neurons (MNs) and represents an exciting candidate to target genetic c…
View article: Urinary P75: a promising biomarker for amyotrophic lateral sclerosis
Urinary P75: a promising biomarker for amyotrophic lateral sclerosis Open
Background Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disease. The urinary neurotrophin receptor p75 extracellular domain (p75 ECD ) has previously been reported as a potential disease biomarker for diagnosis, severity …
View article: Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis
Extreme exercise in males is linked to mTOR signalling and onset of amyotrophic lateral sclerosis Open
Amyotrophic lateral sclerosis (ALS) is thought to be caused by interaction between genetic and environmental factors leading to motor neuron (MN) degeneration. Physical exercise has been linked to ALS but controversy remains. A key questio…
View article: Network analysis of the cerebrospinal fluid proteome reveals shared and unique differences between sporadic and familial forms of amyotrophic lateral sclerosis
Network analysis of the cerebrospinal fluid proteome reveals shared and unique differences between sporadic and familial forms of amyotrophic lateral sclerosis Open
View article: Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort
Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort Open
Our analysis of a large, well-defined, population-based European cohort provides detailed insight into the natural history of ALS, highlighting phenotypic and genetic factors affecting time to key clinical milestones. Further study is need…
View article: Respiratory function, survival, and NIV prevalence over time in ALS - a PRECISION ALS study
Respiratory function, survival, and NIV prevalence over time in ALS - a PRECISION ALS study Open
There was a trend of worsening respiratory function over time and an increase in respiratory symptoms relative to general functional impairment. Survival was strongly associated with respiratory function. In those with impaired respiratory…
View article: Efficacy and safety of low-dose IL-2 as an add-on therapy to riluzole (MIROCALS): a phase 2b, double-blind, randomised, placebo-controlled trial
Efficacy and safety of low-dose IL-2 as an add-on therapy to riluzole (MIROCALS): a phase 2b, double-blind, randomised, placebo-controlled trial Open
European Commission H2020 Programme; French Health Ministry PHRC2014; and Motor Neurone Disease Association.
View article: Randomised controlled trial with parallel process evaluation and health economic analysis to evaluate a nutritional management intervention, OptiCALS, for patients with amyotrophic lateral sclerosis: study protocol
Randomised controlled trial with parallel process evaluation and health economic analysis to evaluate a nutritional management intervention, OptiCALS, for patients with amyotrophic lateral sclerosis: study protocol Open
Introduction Amyotrophic lateral sclerosis (ALS) is a devastating illness that leads to muscle weakness and death usually within around 3 years of diagnosis. People with ALS (pwALS) often lose weight due to raised energy requirements and s…
View article: Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays
Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays Open
A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current underst…
View article: Dalbavancin to facilitate early discharge in the treatment of complex musculoskeletal infections: a multi-centre real-life application
Dalbavancin to facilitate early discharge in the treatment of complex musculoskeletal infections: a multi-centre real-life application Open
Dalbavancin is a lipoglycopeptide with a half-life of 14 d, significantly reducing the need for daily antibiotic dosing. Although dalbavancin is approved for acute bacterial skin and skin structure infections, its off-label use in complex …
View article: C9orf72-ALS mutation drives mitophagy impairments in iNeurons
C9orf72-ALS mutation drives mitophagy impairments in iNeurons Open
Introduction ALS is a neurodegenerative disorder characterised by progressive upper and lower motor neuron loss. A GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene is the most common mutation found in populations of Europea…
View article: An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2 Open
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are both associated with a CAG-repeat expansion in ATXN2 and with TDP-43-positive neuronal cytoplasmic inclusions. The two disorders have been viewed as distinct …
View article: Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications Open
Background Despite several studies suggesting a potential oligogenic risk model in amyotrophic lateral sclerosis (ALS), case–control statistical evidence implicating oligogenicity with disease risk or clinical outcomes is limited. Consider…
View article: <scp>ALS</scp> plasma biomarkers reveal neurofilament and <scp>pTau</scp> correlate with disease onset and progression
<span>ALS</span> plasma biomarkers reveal neurofilament and <span>pTau</span> correlate with disease onset and progression Open
Objective We performed a pilot screen to assess the utility of the NULISA™ (Nucleic‐acid‐Linked Immuno‐Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers. Methods Plasma from 86 individuals (48…
View article: Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons
Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons Open
Amyotrophic lateral sclerosis (ALS) lacks a specific biomarker, but is defined by relatively selective toxicity to motor neurons (MN). As others have highlighted, this offers an opportunity to develop a sensitive and specific biomarker bas…
View article: Acceptance and Commitment Therapy for people living with motor neuron disease: the COMMEND feasibility study and randomised controlled trial
Acceptance and Commitment Therapy for people living with motor neuron disease: the COMMEND feasibility study and randomised controlled trial Open
Background Motor neuron disease is a progressive, fatal neurodegenerative disease for which there is no cure. Formal psychological therapies are not routinely part of United Kingdom standard motor neuron disease care due to a lack of evide…
View article: Optimised Machine Learning for Time-to-Event Prediction in Healthcare Applied to Timing of Gastrostomy in ALS: A Multi-Centre, Retrospective Model Development and Validation Study
Optimised Machine Learning for Time-to-Event Prediction in Healthcare Applied to Timing of Gastrostomy in ALS: A Multi-Centre, Retrospective Model Development and Validation Study Open
View article: An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2 Open
Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are both associated with a CAG-repeat expansion in ATXN2 and with TDP-43-positive neuronal cytoplasmic inclusions. The two disorders have been viewed as distinct …
View article: Lipid-mediated resolution of inflammation and survival in amyotrophic lateral sclerosis
Lipid-mediated resolution of inflammation and survival in amyotrophic lateral sclerosis Open
Neuroinflammation impacts on the progression of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. Specialized pro-resolving mediators trigger the resolution of inflammation. We investigate the specialized pro-resolvi…