DNAJC13 mutations in Parkinson disease C Vilariño-Güell, A Rajput, AJ Milnerwood, B Shah, C Szu-Tu, J Trinh, I Yu, ... Human molecular genetics 23 (7), 1794-1801, 2014 | 353 | 2014 |
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture R Chia, MS Sabir, S Bandres-Ciga, S Saez-Atienzar, RH Reynolds, ... Nature genetics 53 (3), 294-303, 2021 | 223 | 2021 |
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ... Nature 603 (7899), 131-137, 2022 | 217 | 2022 |
ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2 EK Gustavsson, D Zhang, RH Reynolds, S Garcia-Ruiz, M Ryten Bioinformatics 38 (15), 3844-3846, 2022 | 99 | 2022 |
A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p. G2019S parkinsonism J Trinh, R Amouri, JE Duda, JF Morley, M Read, A Donald, ... Neurobiology of aging 35 (5), 1125-1131, 2014 | 96 | 2014 |
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study J Trinh, EK Gustavsson, C Vilariño-Güell, S Bortnick, J Latourelle, ... The Lancet Neurology 15 (12), 1248-1256, 2016 | 85 | 2016 |
A case of Parkinson’s disease with no Lewy body pathology due to a homozygous exon deletion in Parkin KK Johansen, SH Torp, MJ Farrer, EK Gustavsson, JO Aasly Case reports in neurological medicine 2018, 2018 | 68 | 2018 |
Altered dopamine release and monoamine transporters in Vps35 p. D620N knock-in mice S Cataldi, J Follett, JD Fox, I Tatarnikov, C Kadgien, EK Gustavsson, ... npj Parkinson's Disease 4 (1), 27, 2018 | 65 | 2018 |
DNAJC13 genetic variants in parkinsonism EK Gustavsson, J Trinh, I Guella, C Vilariño‐Güell, S Appel‐Cresswell, ... Movement disorders 30 (2), 273-278, 2015 | 62 | 2015 |
LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance F Hentati, J Trinh, C Thompson, E Nosova, MJ Farrer, JO Aasly Neurology 83 (6), 568-569, 2014 | 60 | 2014 |
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease D Lai, B Alipanahi, P Fontanillas, TH Schwantes‐An, J Aasly, RN Alcalay, ... Annals of neurology 90 (1), 76-88, 2021 | 42 | 2021 |
DCTN1 p. K56R in progressive supranuclear palsy EK Gustavsson, J Trinh, I Guella, C Szu-Tu, J Khinda, CH Lin, RM Wu, ... Parkinsonism & Related Disorders 28, 56-61, 2016 | 36 | 2016 |
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects L Krohn, K Heilbron, C Blauwendraat, RH Reynolds, E Yu, K Senkevich, ... Nature communications 13 (1), 7496, 2022 | 33* | 2022 |
Genetic variability of the retromer cargo recognition complex in parkinsonism EK Gustavsson, I Guella, J Trinh, C Szu‐Tu, A Rajput, AH Rajput, ... Movement Disorders 30 (4), 580-584, 2015 | 32 | 2015 |
The influence of mitonuclear genetic variation on personality in seed beetles H Løvlie, E Immonen, E Gustavsson, E Kazancioğlu, G Arnqvist Proceedings of the Royal Society B: Biological Sciences 281 (1796), 20141039, 2014 | 32 | 2014 |
Genetic identification in early onset parkinsonism among Norwegian patients EK Gustavsson, J Trinh, M McKenzie, S Bortnick, MS Petersen, MJ Farrer, ... Movement Disorders Clinical Practice 4 (4), 499-508, 2017 | 28 | 2017 |
Neuropathological findings in PINK1-associated Parkinson's disease CJ Nybø, EK Gustavsson, MJ Farrer, JO Aasly Parkinsonism & Related Disorders 78, 105-108, 2020 | 22 | 2020 |
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis N Dominik, S Magri, R Currò, E Abati, S Facchini, M Corbetta, ... Brain 146 (12), 5060-5069, 2023 | 19 | 2023 |
Parkinson's disease, genetic variability and the Faroe Islands MS Petersen, I Guella, S Bech, E Gustavsson, MJ Farrer Parkinsonism & Related Disorders 21 (1), 75-78, 2015 | 12 | 2015 |
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage Z Chen, D Zhang, RH Reynolds, EK Gustavsson, S García-Ruiz, K D’Sa, ... Nature communications 12 (1), 2076, 2021 | 9* | 2021 |