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Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Among authors: bhatia kp. Am J Hum Genet. 2015 Apr 2;96(4):657-65. doi: 10.1016/j.ajhg.2015.02.007. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799108 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
715 results