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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: davey t. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
Partial deletion of chromosome 8 β-defensin cluster confers sperm dysfunction and infertility in male mice.
Zhou YS, Webb S, Lettice L, Tardif S, Kilanowski F, Tyrrell C, Macpherson H, Semple F, Tennant P, Baker T, Hart A, Devenney P, Perry P, Davey T, Barran P, Barratt CL, Dorin JR. Zhou YS, et al. Among authors: davey t. PLoS Genet. 2013 Oct;9(10):e1003826. doi: 10.1371/journal.pgen.1003826. Epub 2013 Oct 24. PLoS Genet. 2013. PMID: 24204287 Free PMC article.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel KA, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: davey t. Ann Neurol. 2018 Aug;84(2):289-301. doi: 10.1002/ana.25288. Epub 2018 Aug 21. Ann Neurol. 2018. PMID: 30014514 Free PMC article.
Development of a physiological model of human middle ear epithelium.
Mather MW, Verdon B, Botting RA, Engelbert J, Delpiano L, Xu X, Hatton C, Davey T, Lisgo S, Yates P, Dawe N, Bingle CD, Haniffa M, Powell J, Ward C. Mather MW, et al. Among authors: davey t. Laryngoscope Investig Otolaryngol. 2021 Sep 18;6(5):1167-1174. doi: 10.1002/lio2.661. eCollection 2021 Oct. Laryngoscope Investig Otolaryngol. 2021. PMID: 34667862 Free PMC article.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. Vincent AE, et al. Among authors: davey t. Sci Rep. 2016 Aug 10;6:30610. doi: 10.1038/srep30610. Sci Rep. 2016. PMID: 27506553 Free PMC article. Review.
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Lührmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid SN, Johnson CA, Mozaffari-Jovin S, Lako M. Atkinson R, et al. Among authors: davey t. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Oláhová M, et al. Among authors: davey t. J Inherit Metab Dis. 2017 Jan;40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30. J Inherit Metab Dis. 2017. PMID: 27696117 Free PMC article.
162 results