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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. Among authors: smith m. 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.
Pharmacological management of abnormal tone and movement in cerebral palsy.
Lumsden DE, Crowe B, Basu A, Amin S, Devlin A, DeAlwis Y, Kumar R, Lodh R, Lundy CT, Mordekar SR, Smith M, Cadwgan J. Lumsden DE, et al. Among authors: smith m. Arch Dis Child. 2019 Aug;104(8):775-780. doi: 10.1136/archdischild-2018-316309. Epub 2019 Apr 4. Arch Dis Child. 2019. PMID: 30948360
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: smith m, smith dj. Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308. Brain. 2013. PMID: 23365103 Free PMC article.
Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.
Hacohen Y, Wright S, Waters P, Agrawal S, Carr L, Cross H, De Sousa C, Devile C, Fallon P, Gupta R, Hedderly T, Hughes E, Kerr T, Lascelles K, Lin JP, Philip S, Pohl K, Prabahkar P, Smith M, Williams R, Clarke A, Hemingway C, Wassmer E, Vincent A, Lim MJ. Hacohen Y, et al. Among authors: smith m. J Neurol Neurosurg Psychiatry. 2013 Jul;84(7):748-55. doi: 10.1136/jnnp-2012-303807. Epub 2012 Nov 22. J Neurol Neurosurg Psychiatry. 2013. PMID: 23175854 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: smith m. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
Silveira-Moriyama L, Gardiner AR, Meyer E, King MD, Smith M, Rakshi K, Parker A, Mallick AA, Brown R, Vassallo G, Jardine PE, Guerreiro MM, Lees AJ, Houlden H, Kurian MA. Silveira-Moriyama L, et al. Among authors: smith m. Dev Med Child Neurol. 2013 Apr;55(4):327-34. doi: 10.1111/dmcn.12056. Epub 2013 Jan 30. Dev Med Child Neurol. 2013. PMID: 23363396 Free article.
Intrathecal baclofen pumps in the management of hypertonia in childhood: a UK and Ireland wide survey.
Lodh R, Amin S, Ammar A, Bellis L, Brink P, Calisto A, Crimmins D, Eunson P, Forsyth RJ, Goodden J, Kaminska M, Kehoe J, Kirkpatrick M, Kumar R, Leonard J, Lording A, Martin K, Miller R, Mordekar SR, Pettorini B, Smith M, Smith R, Sneade C, Whitney A, Vloeberghs M, Zaki H, Lumsden DE. Lodh R, et al. Among authors: smith m, smith r. Arch Dis Child. 2021 Dec;106(12):1202-1206. doi: 10.1136/archdischild-2020-321487. Epub 2021 Apr 14. Arch Dis Child. 2021. PMID: 33853760
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