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Page 1
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.
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.
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.
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Eyre M, Hacohen Y, Lamb K, Absoud M, Agrawal S, Gadian J, Gupta R, Kneen R, Milford DV, Philip S, Rose K, Smith M, Spinty S, Wassmer E, Lim M, Hemingway C. Eyre M, et al. Among authors: smith m. Dev Med Child Neurol. 2019 May;61(5):540-546. doi: 10.1111/dmcn.14150. Epub 2019 Jan 18. Dev Med Child Neurol. 2019. PMID: 30659589 Free 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 Free article.
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: smith m. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 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
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