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Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: humphrey j. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Fratta P, et al. Among authors: humphrey j. EMBO J. 2018 Jun 1;37(11):e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15. EMBO J. 2018. PMID: 29764981 Free PMC article.
Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility.
Raj T, Li YI, Wong G, Humphrey J, Wang M, Ramdhani S, Wang YC, Ng B, Gupta I, Haroutunian V, Schadt EE, Young-Pearse T, Mostafavi S, Zhang B, Sklar P, Bennett DA, De Jager PL. Raj T, et al. Among authors: humphrey j. Nat Genet. 2018 Nov;50(11):1584-1592. doi: 10.1038/s41588-018-0238-1. Epub 2018 Oct 8. Nat Genet. 2018. PMID: 30297968 Free PMC article.
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. Sivakumar P, et al. Among authors: humphrey j. Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260. Brain. 2018. PMID: 30364928 No abstract available.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: humphrey j. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y. Nat Genet. 2019. PMID: 31028356 Free PMC article.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Humphrey J, et al. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. Nucleic Acids Res. 2020. PMID: 32479602 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: humphrey j. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing.
Bampton A, Gatt A, Humphrey J, Cappelli S, Bhattacharya D, Foti S, Brown AL, Asi Y, Low YH, Foiani M, Raj T, Buratti E, Fratta P, Lashley T. Bampton A, et al. Among authors: humphrey j. Acta Neuropathol. 2021 Oct;142(4):609-627. doi: 10.1007/s00401-021-02340-0. Epub 2021 Jul 18. Acta Neuropathol. 2021. PMID: 34274995 Free PMC article.
1,165 results