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Author Details

Pamela J Shaw
Sheffield Institute for Translational Neuroscience, University of Sheffield
1983
470
98
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35871544Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.Brain Pathol2023
37828541Janus kinase inhibitors are potential therapeutics for amyotrophic lateral sclerosis.Transl Neurodegener2023
35852375Comparison Of King's Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts.Amyotroph Lateral Scler Frontotemporal Degener2023
37251807A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.Front Aging Neurosci2023
37043475Genetic variability in sporadic amyotrophic lateral sclerosis.Brain2023
37477391Combining electromyography and Raman spectroscopy: optical EMG.Muscle Nerve2023
36925053The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.Neurobiol Dis2023
36857431A cell-penetrant peptide blocking <i>C9ORF72</i>-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.Sci Transl Med2023
36918362Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence.Brain2023
36543887Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation.Nat Rev Drug Discov2023
36688084Preservation of thalamic neuronal function may be a prerequisite for pain perception in diabetic neuropathy: A magnetic resonance spectroscopy study.Front Pain Res (Lausanne)2023
36509983Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease.J Neurol2023
36937187Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.Front Cell Neurosci2023
36481799Prospects for gene replacement therapies in amyotrophic lateral sclerosis.Nat Rev Neurol2023
34322948Assessment of the Precision in Measuring Glutathione at 3â¿¿T With a MEGA-PRESS Sequence in Primary Motor Cortex and Occipital Cortex.J Magn Reson Imaging2022
35614165Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis.J Neurol2022
35441136Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis.Brain Commun2022
35545877Rapid identification of human muscle disease with fibre optic Raman spectroscopy.Analyst2022
35406750Neurotoxic Astrocytes Directly Converted from Sporadic and Familial ALS Patient Fibroblasts Reveal Signature Diversities and miR-146a Theragnostic Potential in Specific Subtypes.Cells2022
35762576Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle.Muscle Nerve2022
35569295Tensor electrical impedance myography identifies bulbar disease progression in amyotrophic lateral sclerosisClin Neurophysiol2022
36589292Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.Front Cell Neurosci2022
36619668Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.Front Cell Neurosci2022
36499600Blood-Brain Barrier Disruption and Its Involvement in Neurodevelopmental and Neurodegenerative Disorders.Int J Mol Sci2022
36497181Micro-RNAs Shuttled by Extracellular Vesicles Secreted from Mesenchymal Stem Cells Dampen Astrocyte Pathological Activation and Support Neuroprotection in In-Vitro Models of ALS.Cells2022
36371497The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.Nat Commun2022
36241425Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.Life Sci Alliance2022
36034213EphA4 targeting agents protect motor neurons from cell death induced by amyotrophic lateral sclerosis -astrocytes.iScience2022
36129998Trial of Antisense Oligonucleotide Tofersen for <i>SOD1</i> ALS.N Engl J Med2022
36380299A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol.BMC Neurol2022
36290620Dipeptide Repeat Pathology in <i>C9orf72</i>-ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance.Antioxidants (Basel)2022
36323511Senescent-like Blood Lymphocytes and Disease Progression in Amyotrophic Lateral Sclerosis.Neurol Neuroimmunol Neuroinflamm2022
36222101Label-free fibre optic Raman spectroscopy with bounded simplex-structured matrix factorization for the serial study of serum in amyotrophic lateral sclerosis.Analyst2022
36116464Amyotrophic lateral sclerosis.Lancet2022
35291294Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication.bioRxiv2022
35224491Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.Brain Commun2022
35313342SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.Hum Mol Genet2022
34886679Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circ Res2022
35091648Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.NPJ Genom Med2022
34687220Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate.Muscle Nerve2022
32365404TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis.Neuropathol Appl Neurobiol2021
33869658Adipose-derived stem cells protect motor neurons and reduce glial activation in both <i>in vitro</i> and <i>in vivo</i> models of ALS.Mol Ther Methods Clin Dev2021
33535055Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.Cell Rep2021
33589474Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.J Neurol Neurosurg Psychiatry2021
34409288Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2.Brain Commun2021
34404845Extensive phenotypic characterisation of a human TDP-43<sup>Q331K</sup> transgenic mouse model of amyotrophic lateral sclerosis (ALS).Sci Rep2021
34521070Tensor electrical impedance myography identifies clinically relevant features in amyotrophic lateral sclerosis.Physiol Meas2021
34376242SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis.Mol Neurodegener2021
34623437Membrane lipid raft homeostasis is directly linked to neurodegeneration.Essays Biochem2021
34044197Amyotrophic lateral sclerosis alters the metabolic aging profile in patient derived fibroblasts.Neurobiol Aging2021
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Collaborators

Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 48
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Co-authored papers 34
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Co-authored papers 24
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 20
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 14
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
Co-authored papers 11
Co-authored papers 10
Newcastle University
Co-authored papers 7
University of Antwerp
Co-authored papers 7
Center for Alzheimer's and Related Dementias, National Institutes of Health
Co-authored papers 6
University of Pennsylvania
Co-authored papers 6
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 5
Technical University of Munich, Institute of Human Genetics
Co-authored papers 5
Co-authored papers 5
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 4
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Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 4
Co-authored papers 4
King's College London
Co-authored papers 4
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School of Clinical Medicine, University of Cambridge
Co-authored papers 4
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Institute for Genomic Medicine, Columbia University Irving Medical Center
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Institute of Psychiatry, King's College London
Co-authored papers 3
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 3