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Low CSF 5-HIAA in Myoclonus Dystonia.
Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA. Peall KJ, et al. Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. Mov Disord. 2017. PMID: 28949039 Free PMC article. No abstract available.
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. Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308. Brain. 2013. PMID: 23365103 Free PMC article.
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, 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. J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488-3. Epub 2014 Sep 11. J Neurol. 2014. PMID: 25209853 Free PMC article.
Benign Hereditary Chorea: An Update.
Peall KJ, Kurian MA. Peall KJ, et al. Tremor Other Hyperkinet Mov (N Y). 2015 Jul 14;5:314. doi: 10.7916/D8RJ4HM5. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 26196025 Free PMC article. Review.
Psychiatric disorders, myoclonus dystonia and SGCE: an international study.
Peall KJ, Dijk JM, Saunders-Pullman R, Dreissen YE, van Loon I, Cath D, Kurian MA, Owen MJ, Foncke EM, Morris HR, Gasser T, Bressman S, Asmus F, Tijssen MA. Peall KJ, et al. Ann Clin Transl Neurol. 2015 Nov 20;3(1):4-11. doi: 10.1002/acn3.263. eCollection 2016 Jan. Ann Clin Transl Neurol. 2015. PMID: 26783545 Free PMC article.
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: peall kj. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417 Free article.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: peall kj. Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186668 Free article.
67 results