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Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Gavin Charlesworth

(Former Clinical Research Fellow)

My initial medical training took place at King’s College London and included an intercalated BSc (Hons) in Neuroscience. After my qualification in 2003, my continued interest in the brain led me to seek posts which would help me secure a place on the specialty training program for neurology, which I succeeded in obtaining in 2008. My predominant interests within the field of neurology are movement disorders, neurodegeneration and genetics and so, when the opportunity to do some research in the genetics of Parkinson’s disease arose, I jumped ship and re-entered the world of science! I am currently a Clinical Research Fellow at the Institute of Neurology where I hope to complete my PhD.


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Number of items: 19.

2015

Charlesworth, G; Angelova, PR; Bartolomé-Robledo, F; Ryten, M; Trabzuni, D; Stamelou, M; ... Wood, NW; + view all (2015) Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia. Am J Hum Genet , 96 (4) 657 - 665. 10.1016/j.ajhg.2015.02.007.

2014

Charlesworth, G; Bhatia, KP; Wood, NW; (2014) No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia. Mov Disord , 29 (1) pp. 154-155. 10.1002/mds.25713. Green open access
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Proukakis, C; Shoaee, M; Morris, J; Brier, T; Kara, E; Sheerin, UM; ... Schapira, AH; + view all (2014) Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord , 29 (8) 060-1064. 10.1002/mds.25883. Green open access
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Stamelou, M; Charlesworth, G; Cordivari, C; Schneider, SA; Kägi, G; Sheerin, UM; ... Bhatia, KP; + view all (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord , 29 (7) pp. 928-934. 10.1002/mds.25802. Green open access
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2013

Charlesworth, G; Bhatia, KP; (2013) Primary and secondary dystonic syndromes: an update. Curr Opin Neurol , 26 (4) pp. 406-412. 10.1097/WCO.0b013e3283633696. Green open access
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Charlesworth, G; Bhatia, KP; Wood, NW; (2013) The genetics of dystonia: new twists in an old tale. Brain , 136 (7) 2017 - 2037. 10.1093/brain/awt138. Green open access
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Charlesworth, G; Mohire, MD; Schneider, SA; Stamelou, M; Wood, NW; Bhatia, KP; (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology , 81 (13) 1148 - 1151. 10.1212/WNL.0b013e3182a55fa2.

Cooper-Knock, J; Frolov, A; Highley, JR; Charlesworth, G; Kirby, J; Milano, A; ... Bandmann, O; + view all (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology , 81 (9) 808 - 811. 10.1212/WNL.0b013e3182a2cc38.

Rubio-Agusti, I; Pareés, I; Kojovic, M; Stamelou, M; Saifee, TA; Charlesworth, G; ... Bhatia, KP; + view all (2013) Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort. Parkinsonism Relat Disord , 19 (6) 634 - 638. 10.1016/j.parkreldis.2013.02.017.

Sheerin, UM; Stamelou, M; Charlesworth, G; Shiner, T; Spacey, S; Valente, EM; ... Bhatia, KP; + view all (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol , 260 (2) 656 - 660. 10.1007/s00415-012-6747-4.

2012

Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; ... Wood, NW; + view all (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; ... Wood, NW; + view all (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access
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Charlesworth, G; Wood, NW; (2012) Mutations in Nuclear Genes That Affect Mitochondrial Function in Parkinson’s Disease. In: Reeve, AK and Krishnan, KJ and Duchen, M and Turnbull, DM, (eds.) Mitochondrial Dysfunction in Neurodegenerative Disorders. (? - ?). Springer Verlag

Sheerin, UM; Charlesworth, G; Bras, J; Guerreiro, R; Bhatia, K; Foltynie, T; ... Wood, N; + view all (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging , 33 (4) 838.e1 - 838.e5. 10.1016/j.neurobiolaging.2011.10.032.

Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green open access
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2011

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... Wellcome Trust Case-Control Consor,; + view all (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; ... WTCCC2,; + view all (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access
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2009

Charlesworth, G; Soryal, I; Smith, S; Sisodiya, SM; (2009) Acute, localised paroxysmal pain as the initial manifestation of focal seizures: A case report and a brief review of the literature. PAIN , 141 (3) 300 - 305. 10.1016/j.pain.2008.11.005.

2005

Docherty, RJ; Charlesworth, G; Farrag, K; Bhattacharjee, A; Costa, S; (2005) The use of the rat isolated vagus nerve for functional measurements of the effect of drugs in vitro. J Pharmacol Toxicol Methods , 51 (3) 235 - 242. 10.1016/j.vascn.2004.08.011.

This list was generated on Sat Apr 18 02:27:37 2015 BST.

Page last modified on 12 feb 14 15:28