Publications by authors named "Thomas Spargo"

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Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Thomas P Spargo, Alfredo Iacoangeli, Mina Ryten, Francesca Forzano, Neil Pearce

Biomedicines· April 2025

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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Thomas P Spargo, Chloe F Sands, Isabella R Juan, Jonathan Mitchell, Vida Ravanmehr

Cell Rep· March 2025

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Lipid-mediated resolution of inflammation and survival in amyotrophic lateral sclerosis.
Ozlem Yildiz, Guy P Hunt, Johannes Schroth, Gurleen Dhillon, Thomas P Spargo

Brain Commun· January 2025

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Statistical examination of shared loci in neuropsychiatric diseases using genome-wide association study summary statistics.
Thomas P Spargo, Lachlan Gilchrist, Guy P Hunt, Richard J B Dobson, Petroula Proitsi

Elife· December 2024

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Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Heather Marriott, Thomas P Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A Başak

Ann Clin Transl Neurol· July 2024

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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl, Thomas P Spargo

Nat Commun· July 2024

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Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Munishikha Kalia, Mattia Miotto, Deborah Ness, Sarah Opie-Martin, Thomas P Spargo

Comput Struct Biotechnol J· September 2023

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SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in amyotrophic lateral sclerosis.
Thomas P Spargo, Sarah Opie-Martin, Guy P Hunt, Munishikha Kalia, Ahmad Al Khleifat

Amyotroph Lateral Scler Frontotemporal Degener· August 2023

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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Thomas P Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M Lewis, Alfredo Iacoangeli

Genome Med· December 2022

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D Topp, Olubunmi Abel, Keith Mayl, Thomas P Spargo

Nat Commun· November 2022

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A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene correlates with differential isoform expression.
Jack N G Marshall, Alexander Fröhlich, Li Li, Abigail L Pfaff, Ben Middlehurst, Thomas P Spargo

Front Mol Neurosci· September 2022

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GEOexplorer: a webserver for gene expression analysis and visualisation.
Guy P Hunt, Luigi Grassi, Rafael Henkin, Fabrizio Smeraldi, Thomas P Spargo

Nucleic Acids Res· July 2022

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Twins Early Development Study: A Genetically Sensitive Investigation into Behavioral and Cognitive Development from Infancy to Emerging Adulthood.
Kaili Rimfeld, Margherita Malanchini, Thomas Spargo, Gemma Spickernell, Saskia Selzam

Twin Res Hum Genet· December 2019

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