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Page 1
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. Goldberg YP, et al. Among authors: sherrington r. Clin Genet. 2007 Apr;71(4):311-9. doi: 10.1111/j.1399-0004.2007.00790.x. Clin Genet. 2007. PMID: 17470132
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. Lafreniere RG, et al. Among authors: sherrington r. Am J Hum Genet. 2004 May;74(5):1064-73. doi: 10.1086/420795. Epub 2004 Apr 1. Am J Hum Genet. 2004. PMID: 15060842 Free PMC article.
Safety and Efficacy of a Topical Sodium Channel Inhibitor (TV-45070) in Patients With Postherpetic Neuralgia (PHN): A Randomized, Controlled, Proof-of-Concept, Crossover Study, With a Subgroup Analysis of the Nav1.7 R1150W Genotype.
Price N, Namdari R, Neville J, Proctor KJ, Kaber S, Vest J, Fetell M, Malamut R, Sherrington RP, Pimstone SN, Goldberg YP. Price N, et al. Among authors: sherrington rp. Clin J Pain. 2017 Apr;33(4):310-318. doi: 10.1097/AJP.0000000000000408. Clin J Pain. 2017. PMID: 28266963 Free PMC article. Clinical Trial.
Letter to the editor.
Goldberg YP, Cohen CJ, Namdari R, Price N, Cadieux JA, Young C, Sherrington R, Pimstone SN. Goldberg YP, et al. Among authors: sherrington r. Pain. 2014 Apr;155(4):837-838. doi: 10.1016/j.pain.2014.01.003. Epub 2014 Jan 13. Pain. 2014. PMID: 24434731 Free article. No abstract available.
NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats.
Johnson JP, Focken T, Khakh K, Tari PK, Dube C, Goodchild SJ, Andrez JC, Bankar G, Bogucki D, Burford K, Chang E, Chowdhury S, Dean R, de Boer G, Decker S, Dehnhardt C, Feng M, Gong W, Grimwood M, Hasan A, Hussainkhel A, Jia Q, Lee S, Li J, Lin S, Lindgren A, Lofstrand V, Mezeyova J, Namdari R, Nelkenbrecher K, Shuart NG, Sojo L, Sun S, Taron M, Waldbrook M, Weeratunge D, Wesolowski S, Williams A, Wilson M, Xie Z, Yoo R, Young C, Zenova A, Zhang W, Cutts AJ, Sherrington RP, Pimstone SN, Winquist R, Cohen CJ, Empfield JR. Johnson JP, et al. Among authors: sherrington rp. Elife. 2022 Mar 2;11:e72468. doi: 10.7554/eLife.72468. Elife. 2022. PMID: 35234610 Free PMC article.
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Singaraja RR, Tietjen I, Hovingh GK, Franchini PL, Radomski C, Wong K, vanHeek M, Stylianou IM, Lin L, Wang L, Mitnaul L, Hubbard B, Winther M, Mattice M, Legendre A, Sherrington R, Kastelein JJ, Akinsanya K, Plump A, Hayden MR. Singaraja RR, et al. Among authors: sherrington r. J Lipid Res. 2014 Aug;55(8):1693-701. doi: 10.1194/jlr.M048710. Epub 2014 Jun 2. J Lipid Res. 2014. PMID: 24891332 Free PMC article.
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Hum Mol Genet. 1996 Jul;5(7):985-8. doi: 10.1093/hmg/5.7.985. Hum Mol Genet. 1996. PMID: 8817335
76 results