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Gavin Charlesworth
Gavin Charlesworth
Movement Disorders Consultant, Charing Cross Hospital
E-mail confirmado em nhs.net
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Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
S Lesage, V Drouet, E Majounie, V Deramecourt, M Jacoupy, A Nicolas, ...
The American Journal of Human Genetics 98 (3), 500-513, 2016
4232016
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden, R Kraaij, J Jankovic, ...
Brain 140 (12), 3191-3203, 2017
4062017
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
A Beilina, IN Rudenko, A Kaganovich, L Civiero, H Chau, SK Kalia, ...
Proceedings of the National Academy of Sciences 111 (7), 2626-2631, 2014
3872014
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis
G Charlesworth, V Plagnol, KM Holmström, J Bras, UM Sheerin, E Preza, ...
The American Journal of Human Genetics 91 (6), 1041-1050, 2012
2952012
The genetics of dystonia: new twists in an old tale
G Charlesworth, KP Bhatia, NW Wood
Brain 136 (7), 2017-2037, 2013
1452013
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease
P Holmans, V Moskvina, L Jones, M Sharma, ...
Human molecular genetics 22 (5), 1039-1049, 2013
1412013
The phenotypic spectrum of DYT24 due to ANO3 mutations
M Stamelou, G Charlesworth, C Cordivari, SA Schneider, G Kägi, ...
Movement Disorders 29 (7), 928-934, 2014
1232014
Mutations in HPCA cause autosomal-recessive primary isolated dystonia
G Charlesworth, PR Angelova, F Bartolomé-Robledo, M Ryten, ...
The American Journal of Human Genetics 96 (4), 657-665, 2015
972015
Screening for VPS35 mutations in Parkinson's disease
UM Sheerin, G Charlesworth, J Bras, R Guerreiro, K Bhatia, T Foltynie, ...
Neurobiology of aging 33 (4), 838. e1-838. e5, 2012
822012
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia
G Charlesworth, MD Mohire, SA Schneider, M Stamelou, NW Wood, ...
Neurology 81 (13), 1148-1151, 2013
792013
C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study
J Cooper-Knock, A Frolov, JR Highley, G Charlesworth, J Kirby, A Milano, ...
Neurology 81 (9), 808-811, 2013
662013
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy
G Charlesworth, B Balint, NE Mencacci, L Carr, NW Wood, KP Bhatia
Movement Disorders 31 (8), 1249-1251, 2016
642016
Study of the genetic variability in a Parkinson's Disease gene: EIF4G1
A Tucci, G Charlesworth, UM Sheerin, V Plagnol, NW Wood, J Hardy
Neuroscience letters 518 (1), 19-22, 2012
452012
Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort
I Rubio-Agusti, I Pareés, M Kojovic, M Stamelou, TA Saifee, ...
Parkinsonism & related disorders 19 (6), 634-638, 2013
402013
Tau acts as an independent genetic risk factor in pathologically proven PD
G Charlesworth, S Gandhi, JM Bras, RA Barker, DJ Burn, PF Chinnery, ...
Neurobiology of Aging 33 (4), 838. e7-838. e11, 2012
312012
Primary and secondary dystonic syndromes: an update
G Charlesworth, KP Bhatia
Current opinion in neurology 26 (4), 406-412, 2013
232013
Analysis of Parkinson's disease brain–derived DNA for alpha‐synuclein coding somatic mutations
C Proukakis, M Shoaee, J Morris, T Brier, E Kara, UM Sheerin, ...
Movement Disorders 29 (8), 1060-1064, 2014
222014
Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation
UM Sheerin, M Stamelou, G Charlesworth, T Shiner, S Spacey, ...
Journal of neurology 260, 656-660, 2013
212013
Acute, localised paroxysmal pain as the initial manifestation of focal seizures: a case report and a brief review of the literature
G Charlesworth, I Soryal, S Smith, SM Sisodiya
PAIN® 141 (3), 300-305, 2009
182009
No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia
G Charlesworth, KP Bhatia, NW Wood
Movement Disorders 29 (1), 154-155, 2014
132014
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Artigos 1–20