| Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial S Mullin, L Smith, K Lee, G D’Souza, P Woodgate, J Elflein, J Hällqvist, ... JAMA neurology, 2020 | 293 | 2020 |
| C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies DJH Moss, M Poulter, J Beck, J Hehir, JM Polke, T Campbell, G Adamson, ... Neurology 82 (4), 292-299, 2014 | 252 | 2014 |
| Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study MMX Tan, N Malek, MA Lawton, L Hubbard, AM Pittman, T Joseph, ... Brain 142 (9), 2828-2844, 2019 | 77 | 2019 |
| A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism: Phenotype-Genotype Correlations. E Kara, AP Kiely, C Proukakis, N Giffin, S Love, J Hehir, K Rantell, ... JAMA neurology 71 (9), 1162-1171, 2014 | 69 | 2014 |
| Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk SJ Lubbe, BI Bustos, J Hu, D Krainc, T Joseph, J Hehir, M Tan, W Zhang, ... Human molecular genetics 30 (1), 78-86, 2021 | 38 | 2021 |
| Analysis of the genetic variability in Parkinson's disease from Southern Spain S Bandrés-Ciga, NE Mencacci, R Durán, FJ Barrero, F Escamilla-Sevilla, ... Neurobiology of aging 37, 210. e1-210. e5, 2016 | 34 | 2016 |
| K11 C9orf72 Expansions Are The Most Common Genetic Cause Of Huntington’s Disease Phenocopy Presentations In A Uk Cohort DJH Moss, M Poulter, J Beck, JM Polke, T Campbell, G Adamson, J Hehir, ... J Neurol Neurosurg Psychiatry 85 (Suppl 1), A82-A82, 2014 | 2 | 2014 |
| PO184 Analysis of copy number variants in familial and sporadic parkinson’s disease T Joseph, J Hehir, M Tan, W Zhang, H Houlden, S Lubbe, H Morris Journal of Neurology, Neurosurgery & Psychiatry 88 (Suppl 1), A59-A60, 2017 | | 2017 |
| SPG11 sequencing in worldwide populations of familial and sporadic spastic paraplegia patients reveals frequent mutations and the common association of parkinsonian features E Kara, L Schottlaender, A Berardo, R Reisin, J Hehir, D Hughes, ... Movement Disorders 28, S397-S397, 2013 | | 2013 |
Sarah J TabriziProfessor of Neurology UCLVerified email at prion.ucl.ac.uk
