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), 1267-1288, 2018 | 664 | 2018 |
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications R Chia, A Chiò, BJ Traynor The Lancet Neurology 17 (1), 94-102, 2018 | 610 | 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 | 556 | 2014 |
The origins and uses of mouse outbred stocks R Chia, F Achilli, MFW Festing, EMC Fisher Nature genetics 37 (11), 1181-1186, 2005 | 508 | 2005 |
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 | 389 | 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 | 293 | 2021 |
The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia YA Abramzon, P Fratta, BJ Traynor, R Chia Frontiers in neuroscience 14, 42, 2020 | 252 | 2020 |
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology 85 (4), 470-481, 2019 | 180 | 2019 |
A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation BMH Law, VA Spain, VHL Leinster, R Chia, A Beilina, HJ Cho, ... Journal of Biological Chemistry 289 (2), 895-908, 2014 | 174 | 2014 |
Superoxide Dismutase 1 and tgSOD1G93A Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis R Chia, MH Tattum, S Jones, J Collinge, EMC Fisher, GS Jackson PloS one 5 (5), e10627, 2010 | 174 | 2010 |
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases C Blauwendraat, F Faghri, L Pihlstrom, JT Geiger, A Elbaz, S Lesage, ... Neurobiology of aging 57, 247. e9-247. e13, 2017 | 153 | 2017 |
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation IN Rudenko, A Kaganovich, DN Hauser, A Beylina, R Chia, J Ding, ... Biochemical Journal 446 (1), 99-111, 2012 | 135 | 2012 |
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies F Akçimen, ER Lopez, JE Landers, A Nath, A Chiò, R Chia, BJ Traynor Nature Reviews Genetics 24 (9), 642-658, 2023 | 118 | 2023 |
Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7 R Chia, S Haddock, A Beilina, IN Rudenko, A Mamais, A Kaganovich, Y Li, ... Nature communications 5 (1), 5827, 2014 | 110 | 2014 |
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy F Achilli, V Bros-Facer, HP Williams, GT Banks, M AlQatari, R Chia, ... Disease models & mechanisms 2 (7-8), 359-373, 2009 | 107 | 2009 |
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study E Jabbari, S Koga, RR Valentino, RH Reynolds, R Ferrari, MMX Tan, ... The Lancet Neurology 20 (2), 107-116, 2021 | 104 | 2021 |
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types S Saez-Atienzar, S Bandres-Ciga, RG Langston, JJ Kim, SW Choi, ... Science advances 7 (3), eabd9036, 2021 | 82 | 2021 |
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study R Chia, S Saez-Atienzar, N Murphy, A Chiò, C Blauwendraat, ... Proceedings of the National Academy of Sciences 119 (5), e2108672119, 2022 | 81 | 2022 |
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 81 | 2021 |
Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag–implications for research into amyotrophic lateral sclerosis (ALS) JC Stevens, R Chia, WT Hendriks, V Bros-Facer, J van Minnen, JE Martin, ... PloS one 5 (3), e9541, 2010 | 80 | 2010 |