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664 results

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: chinnery pf. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Matthews E, et al. Among authors: chinnery pf. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. Neurology. 2009. PMID: 19118277 Free PMC article.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: chinnery pf. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 Free PMC article.
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR. Kilarski LL, et al. Among authors: chinnery pf. Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Mov Disord. 2012. PMID: 22956510 Review.
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. Peall KJ, et al. Among authors: chinnery pf. Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308. Brain. 2013. PMID: 23365103 Free PMC article.
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility study.
Jackson GS, Burk-Rafel J, Edgeworth JA, Sicilia A, Abdilahi S, Korteweg J, Mackey J, Thomas C, Wang G, Schott JM, Mummery C, Chinnery PF, Mead S, Collinge J. Jackson GS, et al. Among authors: chinnery pf. JAMA Neurol. 2014 Apr;71(4):421-8. doi: 10.1001/jamaneurol.2013.6001. JAMA Neurol. 2014. PMID: 24590363 Free PMC article. Clinical Trial.
664 results