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GEOexplorer: a webserver for gene expression analysis and visualisation.
Nucleic Acids Res. 2022 Jul 5;50(W1):W367-W374. doi: 10.1093/nar/gkac364.
Nucleic Acids Res. 2022.
PMID: 35609980
Free PMC article.
A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression.
Marshall JNG, Fröhlich A, Li L, Pfaff AL, Middlehurst B, Spargo TP, Iacoangeli A, Lang B, Al-Chalabi A, Koks S, Bubb VJ, Quinn JP.
Marshall JNG, et al. Among authors: spargo tp.
Front Mol Neurosci. 2022 Sep 5;15:954928. doi: 10.3389/fnmol.2022.954928. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 36131690
Free PMC article.
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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE.
Opie-Martin S, et al. Among authors: spargo tp.
Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y.
Nat Commun. 2022.
PMID: 36371497
Free PMC article.
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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo TP, Opie-Martin S, Bowles H, Lewis CM, Iacoangeli A, Al-Chalabi A.
Spargo TP, et al.
Genome Med. 2022 Dec 15;14(1):141. doi: 10.1186/s13073-022-01142-7.
Genome Med. 2022.
PMID: 36522764
Free PMC article.
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SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Spargo TP, Opie-Martin S, Hunt GP, Kalia M, Al Khleifat A, Topp SD, Shaw CE, Al-Chalabi A, Iacoangeli A; Project Mine ALS Sequencing Consortium.
Spargo TP, et al.
Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug 3:1-10. doi: 10.1080/21678421.2023.2236650. Online ahead of print.
Amyotroph Lateral Scler Frontotemporal Degener. 2023.
PMID: 37534756
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Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Kalia M, Miotto M, Ness D, Opie-Martin S, Spargo TP, Di Rienzo L, Biagini T, Petrizzelli F, Al Khleifat A, Kabiljo R; Project MinE ALS Sequencing Consortium; SOD1-ALS clinical and genetic data collection group; Mazza T, Ruocco G, Milanetti E, Dobson RJ, Al-Chalabi A, Iacoangeli A.
Kalia M, et al. Among authors: spargo tp.
Comput Struct Biotechnol J. 2023 Sep 17;21:5296-5308. doi: 10.1016/j.csbj.2023.09.016. eCollection 2023.
Comput Struct Biotechnol J. 2023.
PMID: 37954145
Free PMC article.
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Twins Early Development Study: A Genetically Sensitive Investigation into Behavioral and Cognitive Development from Infancy to Emerging Adulthood.
Rimfeld K, Malanchini M, Spargo T, Spickernell G, Selzam S, McMillan A, Dale PS, Eley TC, Plomin R.
Rimfeld K, et al.
Twin Res Hum Genet. 2019 Dec;22(6):508-513. doi: 10.1017/thg.2019.56. Epub 2019 Sep 23.
Twin Res Hum Genet. 2019.
PMID: 31544730
Free PMC article.
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Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A.
Marriott H, et al. Among authors: spargo tp.
Ann Clin Transl Neurol. 2024 May 22. doi: 10.1002/acn3.52083. Online ahead of print.
Ann Clin Transl Neurol. 2024.
PMID: 38775181
Free article.
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