| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies International Parkinson Disease Genomics Consortium The Lancet 377 (9766), 641-649, 2011 | 1008 | 2011 |
| 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 | 413 | 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 | 390 | 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 | 378 | 2014 |
| Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells A McNeill, J Magalhaes, C Shen, KY Chau, D Hughes, A Mehta, ... Brain 137 (5), 1481-1495, 2014 | 346 | 2014 |
| T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation A McNeill, D Birchall, SJ Hayflick, A Gregory, JF Schenk, EA Zimmerman, ... Neurology 70 (18), 1614-1619, 2008 | 329 | 2008 |
| Prion protein accumulation and neuroprotection in hypoxic brain damage NF McLennan, PM Brennan, A McNeill, I Davies, A Fotheringham, ... The American journal of pathology 165 (1), 227-235, 2004 | 292 | 2004 |
| Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation–positive cohort M Beavan, A McNeill, C Proukakis, DA Hughes, A Mehta, AHV Schapira JAMA neurology 72 (2), 201-208, 2015 | 229 | 2015 |
| The neurological presentation of ceruloplasmin gene mutations A McNeill, M Pandolfo, J Kuhn, H Shang, H Miyajima European neurology 60 (4), 200-205, 2008 | 194 | 2008 |
| Loss-of-function mutations in RAB18 cause Warburg micro syndrome D Bem, SI Yoshimura, R Nunes-Bastos, FF Bond, MA Kurian, F Rahman, ... The American Journal of Human Genetics 88 (4), 499-507, 2011 | 184 | 2011 |
| A systematic review of the gait characteristics associated with Cerebellar Ataxia E Buckley, C Mazzà, A McNeill Gait & posture 60, 154-163, 2018 | 173 | 2018 |
| 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 | 139 | 2013 |
| A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers A McNeill, R Duran, DA Hughes, A Mehta, AHV Schapira Journal of Neurology, Neurosurgery & Psychiatry 83 (8), 853-854, 2012 | 138 | 2012 |
| Hyposmia and cognitive impairment in Gaucher disease patients and carriers A McNeill, R Duran, C Proukakis, J Bras, D Hughes, A Mehta, J Hardy, ... Movement Disorders 27 (4), 526-532, 2012 | 138 | 2012 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 114 | 2022 |
| Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease N Zokaei, A McNeill, C Proukakis, M Beavan, P Jarman, P Korlipara, ... Brain 137 (8), 2303-2311, 2014 | 97 | 2014 |
| Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts BS Kilpatrick, J Magalhaes, MS Beavan, A McNeill, ME Gegg, ... Cell Calcium 59 (1), 12-20, 2016 | 91 | 2016 |
| Genotype–phenotype correlations in VHL exon deletions A McNeill, E Rattenberry, R Barber, P Killick, F MacDonald, ER Maher American journal of medical genetics Part A 149 (10), 2147-2151, 2009 | 89 | 2009 |
| Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome A Hempel, AT Pagnamenta, M Blyth, S Mansour, V McConnell, I Kou, ... Journal of medical genetics 53 (3), 152-162, 2016 | 83 | 2016 |
| MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus P Blanchet, M Bebin, S Bruet, GM Cooper, ML Thompson, B Duban-Bedu, ... PLoS genetics 13 (8), e1006957, 2017 | 78 | 2017 |
