Charlesworth G - Search Results

1

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.

2

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. 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.

3

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.

4

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.

5

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.

Charlesworth G, Bhatia KP, Wood NW. Charlesworth G, et al. Mov Disord. 2014 Jan;29(1):154-5. doi: 10.1002/mds.25713. Epub 2013 Nov 12. Mov Disord. 2014. PMID: 24222099 Free PMC article. No abstract available.

6

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Proukakis C, Shoaee M, Morris J, Brier T, Kara E, Sheerin UM, Charlesworth G, Tolosa E, Houlden H, Wood NW, Schapira AH. Proukakis C, et al. Among authors: charlesworth g. Mov Disord. 2014 Jul;29(8):1060-4. doi: 10.1002/mds.25883. Epub 2014 Apr 21. Mov Disord. 2014. PMID: 24752924 Free PMC article.

7

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Charlesworth G, Balint B, Mencacci NE, Carr L, Wood NW, Bhatia KP. Charlesworth G, et al. Mov Disord. 2016 Aug;31(8):1249-51. doi: 10.1002/mds.26716. Epub 2016 Jul 19. Mov Disord. 2016. PMID: 27430653 No abstract available.

8

Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Balint B, Charlesworth G, Erro R, Wood NW, Bhatia KP. Balint B, et al. Among authors: charlesworth g. Mov Disord. 2019 Apr;34(4):589-592. doi: 10.1002/mds.27638. Mov Disord. 2019. PMID: 30991467 No abstract available.

9

Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.

Rubio-Agusti I, Pareés I, Kojovic M, Stamelou M, Saifee TA, Charlesworth G, Sheerin UM, Edwards MJ, Bhatia KP. Rubio-Agusti I, et al. Among authors: charlesworth g. Parkinsonism Relat Disord. 2013 Jun;19(6):634-8. doi: 10.1016/j.parkreldis.2013.02.017. Epub 2013 Mar 21. Parkinsonism Relat Disord. 2013. PMID: 23523105 Free PMC article.

10

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

Balint B, Charlesworth G, Stamelou M, Carr L, Mencacci NE, Wood NW, Bhatia KP. Balint B, et al. Among authors: charlesworth g. Eur J Neurol. 2019 Sep;26(9):1240-1243. doi: 10.1111/ene.13956. Epub 2019 Apr 20. Eur J Neurol. 2019. PMID: 30897263 Free PMC article.

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