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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2014 3
2015 2
2016 2
2017 2
2018 8
2019 3
2020 4
2021 5
2022 7
2023 5
2024 0

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40 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: themistocleous ac. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Studying human nociceptors: from fundamentals to clinic.
Middleton SJ, Barry AM, Comini M, Li Y, Ray PR, Shiers S, Themistocleous AC, Uhelski ML, Yang X, Dougherty PM, Price TJ, Bennett DL. Middleton SJ, et al. Among authors: themistocleous ac. Brain. 2021 Jun 22;144(5):1312-1335. doi: 10.1093/brain/awab048. Brain. 2021. PMID: 34128530 Free PMC article. Review.
Painful and non-painful diabetic neuropathy, diagnostic challenges and implications for future management.
Jensen TS, Karlsson P, Gylfadottir SS, Andersen ST, Bennett DL, Tankisi H, Finnerup NB, Terkelsen AJ, Khan K, Themistocleous AC, Kristensen AG, Itani M, Sindrup SH, Andersen H, Charles M, Feldman EL, Callaghan BC. Jensen TS, et al. Among authors: themistocleous ac. Brain. 2021 Jul 28;144(6):1632-1645. doi: 10.1093/brain/awab079. Brain. 2021. PMID: 33711103 Free PMC article. Review.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: themistocleous ac. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: themistocleous ac. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, van Zuydam N, Walker SM, Woods CG, Bennett DLH. Themistocleous AC, et al. Brain Commun. 2023 Feb 20;5(2):fcad037. doi: 10.1093/braincomms/fcad037. eCollection 2023. Brain Commun. 2023. PMID: 36895957 Free PMC article.
Nav1.7 is required for normal C-low threshold mechanoreceptor function in humans and mice.
Middleton SJ, Perini I, Themistocleous AC, Weir GA, McCann K, Barry AM, Marshall A, Lee M, Mayo LM, Bohic M, Baskozos G, Morrison I, Löken LS, McIntyre S, Nagi SS, Staud R, Sehlstedt I, Johnson RD, Wessberg J, Wood JN, Woods CG, Moqrich A, Olausson H, Bennett DL. Middleton SJ, et al. Among authors: themistocleous ac. Brain. 2022 Oct 21;145(10):3637-3653. doi: 10.1093/brain/awab482. Brain. 2022. PMID: 34957475 Free PMC article.
Reply: Non-freezing cold injury: a multi-faceted syndrome.
Vale TA, Symmonds M, Polydefkis M, Byrnes K, Rice ASC, Themistocleous AC, Bennett DLH. Vale TA, et al. Among authors: themistocleous ac. Brain. 2018 Feb 1;141(2):e10. doi: 10.1093/brain/awx325. Brain. 2018. PMID: 29315377 No abstract available.
40 results