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The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP. Stamelou M, et al. Among authors: sheerin um. Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17. Mov Disord. 2014. PMID: 24442708 Free PMC article.
The entity of parkinsonism and associated lipomatosis.
Stamelou M, Sheerin UM, Wood N, Bhatia KP. Stamelou M, et al. Among authors: sheerin um. Neurology. 2014 Oct 28;83(18):1673-4. doi: 10.1212/WNL.0000000000000937. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274843 Free PMC article. No abstract available.
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: sheerin um. 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.
Screening for VPS35 mutations in Parkinson's disease.
Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N. Sheerin UM, et al. Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7. Neurobiol Aging. 2012. PMID: 22154191 Free PMC article.
Study of the genetic variability in a Parkinson's Disease gene: EIF4G1.
Tucci A, Charlesworth G, Sheerin UM, Plagnol V, Wood NW, Hardy J. Tucci A, et al. Among authors: sheerin um. Neurosci Lett. 2012 Jun 14;518(1):19-22. doi: 10.1016/j.neulet.2012.04.033. Epub 2012 Apr 23. Neurosci Lett. 2012. PMID: 22561553 Free PMC article.
43 results