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 | 423 | 2016 |
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 | 406 | 2017 |
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 | 387 | 2014 |
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 | 295 | 2012 |
The genetics of dystonia: new twists in an old tale G Charlesworth, KP Bhatia, NW Wood Brain 136 (7), 2017-2037, 2013 | 145 | 2013 |
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 | 141 | 2013 |
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 | 123 | 2014 |
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 | 97 | 2015 |
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 | 82 | 2012 |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia G Charlesworth, MD Mohire, SA Schneider, M Stamelou, NW Wood, ... Neurology 81 (13), 1148-1151, 2013 | 79 | 2013 |
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 | 66 | 2013 |
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 | 64 | 2016 |
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 | 45 | 2012 |
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 | 40 | 2013 |
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 | 31 | 2012 |
Primary and secondary dystonic syndromes: an update G Charlesworth, KP Bhatia Current opinion in neurology 26 (4), 406-412, 2013 | 23 | 2013 |
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 | 22 | 2014 |
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 | 21 | 2013 |
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 | 18 | 2009 |
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 | 13 | 2014 |