Browse by UCL people
Group by: Type | Date
Number of items: 10.
2016
Charlesworth, G;
(2016)
Using next-generation sequencing to understand the aetiology of dystonia and other neurological diseases.
Doctoral thesis , UCL (University College London).
|
2015
Charlesworth, G;
Angelova, PR;
Bartolomé-Robledo, F;
Ryten, M;
Trabzuni, D;
Stamelou, M;
Abramov, AY;
... Wood, NW; + view all
(2015)
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
American Journal of Human Genetics
, 96
(4)
pp. 657-665.
10.1016/j.ajhg.2015.02.007.
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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.
|
Proukakis, C;
Shoaee, M;
Morris, J;
Brier, T;
Kara, E;
Sheerin, UM;
Charlesworth, G;
... 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.
|
Stamelou, M;
Charlesworth, G;
Cordivari, C;
Schneider, SA;
Kägi, G;
Sheerin, UM;
Rubio-Agusti, I;
... 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.
|
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.
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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.
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2012
Charlesworth, G;
Plagnol, V;
Holmström, KM;
Bras, J;
Sheerin, UM;
Preza, E;
Rubio-Agusti, I;
... 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.
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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.
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2011
Plagnol, V;
Nalls, MA;
Bras, JM;
Hernandez, DG;
Sharma, M;
Sheerin, UM;
Saad, M;
... 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.
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