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Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Among authors: bhatia kp. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T. Asmus F, et al. Among authors: bhatia kp. Ann Neurol. 2002 Oct;52(4):489-92. doi: 10.1002/ana.10325. Ann Neurol. 2002. PMID: 12325078
Parkin disease: a phenotypic study of a large case series.
Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N. Khan NL, et al. Among authors: bhatia kp. Brain. 2003 Jun;126(Pt 6):1279-92. doi: 10.1093/brain/awg142. Brain. 2003. PMID: 12764051
An unusual family with multiple movement disorders.
Edwards M, Russo N, Summers B, Morton J, Peake D, Bhatia K. Edwards M, et al. J Neurol. 2003 Jul;250(7):793-6. doi: 10.1007/s00415-003-1078-0. J Neurol. 2003. PMID: 12883919
715 results