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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. 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.
The genetics of dystonia: new twists in an old tale.
Charlesworth G, Bhatia KP, Wood NW. Charlesworth G, et al. Brain. 2013 Jul;136(Pt 7):2017-37. doi: 10.1093/brain/awt138. Epub 2013 Jun 17. Brain. 2013. PMID: 23775978 Free PMC article. Review.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
Primary and secondary dystonic syndromes: an update.
Charlesworth G, Bhatia KP. Charlesworth G, et al. Curr Opin Neurol. 2013 Aug;26(4):406-12. doi: 10.1097/WCO.0b013e3283633696. Curr Opin Neurol. 2013. PMID: 23757263 Free PMC article. Review.
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: charlesworth g. 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.
134 results