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Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Among authors: bhatia kp. Am J Hum Genet. 2012 Dec 7;91(6):1041-50. doi: 10.1016/j.ajhg.2012.10.024. Epub 2012 Nov 29. Am J Hum Genet. 2012. PMID: 23200863 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
A common LRRK2 mutation in idiopathic Parkinson's disease.
Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. Gilks WP, et al. Among authors: bhatia kp. Lancet. 2005 Jan 29-Feb 4;365(9457):415-6. doi: 10.1016/S0140-6736(05)17830-1. Lancet. 2005. PMID: 15680457
704 results