| Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ... Neuron 44 (4), 595-600, 2004 | 2762 | 2004 |
| Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ... New England Journal of Medicine 342 (21), 1560-1567, 2000 | 1870 | 2000 |
| Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes V Bonifati, CF Rohe, GJ Breedveld, E Fabrizio, M De Mari, C Tassorelli, ... Neurology 65 (1), 87-95, 2005 | 416 | 2005 |
| A genetic study of Wilson’s disease in the United Kingdom AJ Coffey, M Durkie, S Hague, K McLay, J Emmerson, C Lo, S Klaffke, ... Brain 136 (5), 1476-1487, 2013 | 394 | 2013 |
| How much phenotypic variation can be attributed to parkin genotype? E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ... Annals of neurology 54 (2), 176-185, 2003 | 384 | 2003 |
| Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data NL Khan, S Jain, JM Lynch, N Pavese, P Abou-Sleiman, JL Holton, ... Brain 128 (12), 2786-2796, 2005 | 374 | 2005 |
| Parkin mutations are frequent in patients with isolated early‐onset parkinsonism M Periquet, M Latouche, E Lohmann, N Rawal, G De Michele, S Ricard, ... Brain 126 (6), 1271-1278, 2003 | 366 | 2003 |
| Complex relationship between Parkin mutations and Parkinson disease A West, M Periquet, S Lincoln, CB Lücking, D Nicholl, V Bonifati, N Rawal, ... American journal of medical genetics 114 (5), 584-591, 2002 | 272 | 2002 |
| Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis V Nesin, G Wiley, M Kousi, EC Ong, T Lehmann, DJ Nicholl, M Suri, ... Proceedings of the National Academy of Sciences 111 (11), 4197-4202, 2014 | 254 | 2014 |
| Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease LL Kilarski, JP Pearson, V Newsway, E Majounie, MDW Knipe, ... Movement Disorders 27 (12), 1522-1529, 2012 | 207 | 2012 |
| Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family K Gwinn-Hardy, A Singleton, P O'Suilleabhain, M Boss, D Nicholl, A Adam, ... Archives of neurology 58 (2), 296-299, 2001 | 184 | 2001 |
| Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open-label, multicentre, phase 2 study KH Weiss, FK Askari, A Czlonkowska, P Ferenci, JM Bronstein, D Bega, ... The Lancet Gastroenterology & Hepatology 2 (12), 869-876, 2017 | 144 | 2017 |
| A study of five candidate genes in Parkinson’s disease and related neurodegenerative disorders DJ Nicholl, P Bennett, L Hiller, V Bonifati, N Vanacore, G Fabbrini, ... Neurology 53 (7), 1415-1415, 1999 | 143 | 1999 |
| No Association between Parkinson's Disease and Low-Activity Alleles of CatecholO-Methyltransferase F Hoda, D Nicholl, P Bennett, M Arranz, KJ Aitchison, A Al-Chalabi, ... Biochemical and biophysical research communications 228 (3), 780-784, 1996 | 126 | 1996 |
| LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ... The Lancet Neurology 17 (7), 597-608, 2018 | 122 | 2018 |
| Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series D McNaughton, W Knight, R Guerreiro, N Ryan, J Lowe, M Poulter, ... Neurobiology of aging 33 (2), 426. e13-426. e21, 2012 | 109 | 2012 |
| Clinical neurology: why this still matters in the 21st century DJ Nicholl, JP Appleton Journal of Neurology, Neurosurgery & Psychiatry 86 (2), 229-233, 2015 | 100 | 2015 |
| Epidemiology of multiple system atrophy N Vanacore, V Bonifati, G Fabbrini, C Colosimo, G De Michele, R Marconi, ... Neurological sciences 22, 97-99, 2001 | 90 | 2001 |
| Direct genetic evidence for involvement of tau in progressive supranuclear palsy P Bennett, V Bonifati, U Bonuccelli, C Colosimo, M De Mari, G Fabbrini, ... Neurology 51 (4), 982-985, 1998 | 89 | 1998 |
| An English kindred with a novel recessive tauopathy and respiratory failure DJ Nicholl, MA Greenstone, CE Clarke, P Rizzu, D Crooks, A Crowe, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 87 | 2003 |
