α-Synuclein locus triplication causes Parkinson's disease AB Singleton, M Farrer, J Johnson, A Singleton, S Hague, J Kachergus, ... science 302 (5646), 841-841, 2003 | 5198 | 2003 |
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4739 | 2011 |
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 | 2769 | 2004 |
Exome sequencing reveals VCP mutations as a cause of familial ALS JO Johnson, J Mandrioli, M Benatar, Y Abramzon, VM Van Deerlin, ... Neuron 68 (5), 857-864, 2010 | 1439 | 2010 |
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1309 | 2012 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 581 | 2018 |
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ... Nature neuroscience 17 (5), 664-666, 2014 | 517 | 2014 |
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation S Hague, E Rogaeva, D Hernandez, C Gulick, A Singleton, M Hanson, ... Annals of neurology 54 (2), 271-274, 2003 | 327 | 2003 |
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease E Rogaeva, J Johnson, AE Lang, C Gulick, K Gwinn-Hardy, T Kawarai, ... Archives of neurology 61 (12), 1898-1904, 2004 | 250 | 2004 |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 H Houlden, J Johnson, C Gardner-Thorpe, T Lashley, D Hernandez, ... Nature genetics 39 (12), 1434-1436, 2007 | 239 | 2007 |
Graphical system configuration program for material handling J Johnson, G Koff, M Werner US Patent 6,832,139, 2004 | 183 | 2004 |
A genome-wide association study of myasthenia gravis AE Renton, HA Pliner, C Provenzano, A Evoli, R Ricciardi, MA Nalls, ... JAMA neurology 72 (4), 396-404, 2015 | 180 | 2015 |
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease JO Johnson, JR Gibbs, A Megarbane, JA Urtizberea, DG Hernandez, ... Brain 135 (9), 2875-2882, 2012 | 144 | 2012 |
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis JO Johnson, SM Glynn, JR Gibbs, MA Nalls, M Sabatelli, G Restagno, ... Brain 137 (12), e311-e311, 2014 | 135 | 2014 |
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene A Chiò, G Borghero, M Pugliatti, A Ticca, A Calvo, C Moglia, R Mutani, ... Archives of neurology 68 (5), 594-598, 2011 | 135 | 2011 |
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 DG Hernandez, C Paisán‐Ruíz, A McInerney‐Leo, S Jain, ... Annals of neurology 57 (3), 453-456, 2005 | 133 | 2005 |
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis Y Abramzon, JO Johnson, SW Scholz, JP Taylor, M Brunetti, A Calvo, ... Neurobiology of aging 33 (9), 2231. e1-2231. e6, 2012 | 123 | 2012 |
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 99 | 2013 |
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies J Johnson, SM Hague, M Hanson, A Gibson, KE Wilson, EW Evans, ... Neurology 63 (3), 554-556, 2004 | 96 | 2004 |
Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia C Rinaldi, T Schmidt, AJ Situ, JO Johnson, PR Lee, K Chen, LC Bott, ... JAMA neurology 72 (5), 561-570, 2015 | 83 | 2015 |