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Ruth Chia
Ruth Chia
Verified email at nih.gov
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Year
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
5772018
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
5372018
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
5152014
The origins and uses of mouse outbred stocks
R Chia, F Achilli, MFW Festing, EMC Fisher
Nature genetics 37 (11), 1181-1186, 2005
4782005
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
3802014
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
2122021
The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia
YA Abramzon, P Fratta, BJ Traynor, R Chia
Frontiers in neuroscience 14, 42, 2020
2012020
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
1712010
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
1682014
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
1622019
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
1392017
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
1312012
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
1072014
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
1012009
Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial
N Riva, G Mora, G Sorarù, C Lunetta, OE Ferraro, Y Falzone, L Leocani, ...
The Lancet Neurology 18 (2), 155-164, 2019
892019
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
832021
Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?
IN Rudenko, R Chia, MR Cookson
BMC medicine 10, 1-8, 2012
772012
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
732010
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
662021
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
652021
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