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Combined epigenetic/genetic study identified an ALS age of onset modifier.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01183-w
By:
- Zhang, Ming;
- Xi, Zhengrui;
- Saez-Atienzar, Sara;
- Chia, Ruth;
- Moreno, Danielle;
- Sato, Christine;
- Montazer Haghighi, Mahdi;
- Traynor, Bryan J.;
- Zinman, Lorne;
- Rogaeva, Ekaterina
Publication type:
Article
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34732-5
By:
- Krohn, Lynne;
- Heilbron, Karl;
- Blauwendraat, Cornelis;
- Reynolds, Regina H.;
- Yu, Eric;
- Senkevich, Konstantin;
- Rudakou, Uladzislau;
- Estiar, Mehrdad A.;
- Gustavsson, Emil K.;
- Brolin, Kajsa;
- Ruskey, Jennifer A.;
- Freeman, Kathryn;
- Asayesh, Farnaz;
- Chia, Ruth;
- Arnulf, Isabelle;
- Hu, Michele T. M.;
- Montplaisir, Jacques Y.;
- Gagnon, Jean-François;
- Desautels, Alex;
- Dauvilliers, Yves
Publication type:
Article
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Published in:
2022
By:
- Glass, Jonathan D;
- Dewan, Ramita;
- Ding, Jinhui;
- Gibbs, J Raphael;
- Dalgard, Clifton;
- Keagle, Pamela J;
- Shankaracharya;
- García-Redondo, Alberto;
- Traynor, Bryan J;
- Chia, Ruth;
- Landers, John E
Publication type:
journal article
Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.
Published in:
2022
By:
- Kaivola, Karri;
- Shah, Zalak;
- Chia, Ruth;
- Consortium, International LBD Genomics;
- Scholz, Sonja W;
- International LBD Genomics Consortium
Publication type:
journal article
Structural variants in Lewy body dementia and frontotemporal dementia spectrum.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078497
By:
- Kaivola, Karri;
- Chia, Ruth;
- Ding, Jinhui;
- Rasheed, Memoona;
- Fujita, Masashi;
- Menon, Vilas;
- Walton, Ronald L.;
- Collins, Ryan;
- Billingsley, Kimberley;
- Brand, Harrison;
- Talkowski, Michael;
- Zhao, Xuefang;
- Dewan, Ramita;
- Ray, Anindita K;
- Solaiman, Sultana;
- Jerez, Pilar Alvarez;
- Malik, Laksh;
- Dawson, Ted M;
- Rosenthal, Liana;
- Albert, Marilyn S.
Publication type:
Article
Structural variants in Lewy body dementia and frontotemporal dementia spectrum.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078497
By:
- Kaivola, Karri;
- Chia, Ruth;
- Ding, Jinhui;
- Rasheed, Memoona;
- Fujita, Masashi;
- Menon, Vilas;
- Walton, Ronald L.;
- Collins, Ryan;
- Billingsley, Kimberley;
- Brand, Harrison;
- Talkowski, Michael;
- Zhao, Xuefang;
- Dewan, Ramita;
- Ray, Anindita K;
- Solaiman, Sultana;
- Jerez, Pilar Alvarez;
- Malik, Laksh;
- Dawson, Ted M;
- Rosenthal, Liana;
- Albert, Marilyn S.
Publication type:
Article
The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2.
Published in:
Biochemical Journal, 2017, v. 474, n. 9, p. 1547, doi. 10.1042/BCJ20160909
By:
- Rudenko, Iakov N.;
- Kaganovich, Alice;
- Langston, Rebekah G.;
- Beilina, Aleksandra;
- Ndukwe, Kelechi;
- Kumaran, Ravindran;
- Dillman, Allissa A.;
- Chia, Ruth;
- Cookson, Mark R.
Publication type:
Article
The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson’s disease is a partial loss-of-function mutation.
Published in:
Biochemical Journal, 2012, v. 446, n. 1, p. 99, doi. 10.1042/BJ20120637
By:
- RUDENKO, Iakov N.;
- KAGANOVICH, Alice;
- HAUSER, David N.;
- BEYLINA, Aleksandra;
- CHIA, Ruth;
- DING, Jinhui;
- MARIC, Dragan;
- JAFFE, Howard;
- COOKSON, Mark R.
Publication type:
Article
The origins and uses of mouse outbred stocks.
Published in:
Nature Genetics, 2005, v. 37, n. 11, p. 1181, doi. 10.1038/ng1665
By:
- Chia, Ruth;
- Achilli, Francesca;
- Festing, Michael F. W.;
- Fisher, Elizabeth M. C.
Publication type:
Article
Superoxide Dismutase 1 and tgSOD1<sup>G93A</sup> Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis.
Published in:
PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010627
By:
- Chia, Ruth;
- Tattum, M. Howard;
- Jones, Samantha;
- Collinge, John;
- Fisher, Elizabeth M. C.;
- Jackson, Graham S.
Publication type:
Article
Modification of Superoxide Dismutase 1 (SOD1) Properties by a GFP Tag - Implications for Research into Amyotrophic Lateral Sclerosis (ALS).
Published in:
PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009541
By:
- Stevens, James C.;
- Chia, Ruth;
- Hendriks, William T.;
- Bros-Facer, Virginie;
- Minnen, Jan van;
- Martin, Joanne E.;
- Jackson, Graham S.;
- Greensmith, Linda;
- Schiavo, Giampietro;
- Fisher, Elizabeth M. C.
Publication type:
Article
ENU Mutagenesis Reveals a Novel Phenotype of Reduced Limb Strength in Mice Lacking Fibrillin 2.
Published in:
PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009137
By:
- Miller, Gaynor;
- Neilan, Monica;
- Chia, Ruth;
- Gheryani, Nabeia;
- Holt, Natalie;
- Charbit, Annabelle;
- Wells, Sara;
- Tucci, Valter;
- Lalanne, Zuzanne;
- Denny, Paul;
- Fisher, Elizabeth M. C.;
- Cheeseman, Michael;
- Askew, Graham N.;
- Dear, T. Neil
Publication type:
Article
Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1<sup>G93A</sup> Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice.
Published in:
PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006218
By:
- Banks, Gareth T.;
- Bros-Facer, Virginie;
- Williams, Hazel P.;
- Chia, Ruth;
- Achilli, Francesca;
- Bryson, J. Barney;
- Greensmith, Linda;
- Fisher, Elizabeth M. C.
Publication type:
Article
Cochlear Implantation Among Deaf Children With Additional Disabilities: Parental Perceptions of Benefits, Challenges, and Service Provision.
Published in:
2015
By:
- Zaidman-Zait, Anat;
- Curle, Deirdre;
- Jamieson, Janet R.;
- Chia, Ruth;
- Kozak, Frederick K.
Publication type:
Journal Article
Cochlear Implantation Among Deaf Children With Additional Disabilities: Parental Perceptions of Benefits, Challenges, and Service Provision.
Published in:
Journal of Deaf Studies & Deaf Education, 2015, v. 20, n. 1, p. 41, doi. 10.1093/deafed/enu030
By:
- Zaidman-Zait, Anat;
- Curle, Deirdre;
- Jamieson, Janet R.;
- Chia, Ruth;
- Kozak, Frederick K.
Publication type:
Article
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Published in:
JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598
By:
- Johnson, Janel O.;
- Chia, Ruth;
- Miller, Danny E.;
- Li, Rachel;
- Kumaran, Ravindran;
- Abramzon, Yevgeniya;
- Alahmady, Nada;
- Renton, Alan E.;
- Topp, Simon D.;
- Gibbs, J. Raphael;
- Cookson, Mark R.;
- Sabir, Marya S.;
- Dalgard, Clifton L.;
- Troakes, Claire;
- Jones, Ashley R.;
- Shatunov, Aleksey;
- Iacoangeli, Alfredo;
- Al Khleifat, Ahmad;
- Ticozzi, Nicola;
- Silani, Vincenzo
Publication type:
Article
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
Published in:
NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
By:
- Bayram, Ece;
- Reho, Paolo;
- Litvan, Irene;
- Ding, Jinhui;
- Gibbs, J. Raphael;
- Dalgard, Clifton L.;
- Traynor, Bryan J.;
- Scholz, Sonja W.;
- Chia, Ruth
Publication type:
Article
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
Published in:
NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
By:
- Bayram, Ece;
- Reho, Paolo;
- Litvan, Irene;
- Ding, Jinhui;
- Gibbs, J. Raphael;
- Dalgard, Clifton L.;
- Traynor, Bryan J.;
- Scholz, Sonja W.;
- Chia, Ruth
Publication type:
Article
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1682, doi. 10.1002/acn3.51841
By:
- Yu, Eric;
- Krohn, Lynne;
- Ruskey, Jennifer A.;
- Asayesh, Farnaz;
- Spiegelman, Dan;
- Shah, Zalak;
- Chia, Ruth;
- Arnulf, Isabelle;
- Hu, Michele T. M.;
- Montplaisir, Jacques Y.;
- Gagnon, Jean‐François;
- Desautels, Alex;
- Dauvilliers, Yves;
- Gigli, Gian Luigi;
- Valente, Mariarosaria;
- Janes, Francesco;
- Bernardini, Andrea;
- Högl, Birgit;
- Stefani, Ambra;
- Ibrahim, Abubaker
Publication type:
Article
Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.
Published in:
Nature Communications, 2014, v. 5, n. 12, p. 5827, doi. 10.1038/ncomms6827
By:
- Chia, Ruth;
- Haddock, Sara;
- Beilina, Alexandra;
- Rudenko, Iakov N.;
- Mamais, Adamantios;
- Kaganovich, Alice;
- Li, Yan;
- Kumaran, Ravindran;
- Nalls, Michael A.;
- Cookson, Mark R.
Publication type:
Article
Genome‐Wide Analysis of Structural Variants in Parkinson Disease.
Published in:
Annals of Neurology, 2023, v. 93, n. 5, p. 1012, doi. 10.1002/ana.26608
By:
- Billingsley, Kimberley J.;
- Ding, Jinhui;
- Jerez, Pilar Alvarez;
- Illarionova, Anastasia;
- Levine, Kristin;
- Grenn, Francis P.;
- Makarious, Mary B.;
- Moore, Anni;
- Vitale, Daniel;
- Reed, Xylena;
- Hernandez, Dena;
- Torkamani, Ali;
- Ryten, Mina;
- Hardy, John;
- Chia, Ruth;
- Scholz, Sonja W.;
- Traynor, Bryan J.;
- Dalgard, Clifton L.;
- Ehrlich, Debra J.;
- Tanaka, Toshiko
Publication type:
Article
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Published in:
Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae190
By:
- Wu, Lesley Yue;
- Real, Raquel;
- Martinez-Carrasco, Alejandro;
- Chia, Ruth;
- Lawton, Michael A;
- Shoai, Maryam;
- Bresner, Catherine;
- Blauwendraat, Cornelis;
- Singleton, Andrew B;
- Ryten, Mina;
- Consortium, International Lewy Body Dementia Genomics;
- Scholz, Sonja W;
- Traynor, Bryan J;
- Williams, Nigel M;
- Hu, Michele T M;
- Ben-Shlomo, Yoav;
- Grosset, Donald G;
- Hardy, John;
- Morris, Huw R
Publication type:
Article
Association of cardiovascular disease management drugs with Lewy body dementia: a case–control study.
Published in:
Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad346
By:
- Scholz, Sonja W;
- Moroz, Brian E;
- Saez-Atienzar, Sara;
- Chia, Ruth;
- Cahoon, Elizabeth K;
- Dalgard, Clifton L;
- Center, The American Genome;
- Consortium, International Lewy Body Dementia Genomics;
- Freedman, Daryl Michal;
- Pfeiffer, Ruth M
Publication type:
Article
Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.
Published in:
Annals of Neurology, 2024, v. 96, n. 5, p. 994, doi. 10.1002/ana.27040
By:
- Akçimen, Fulya;
- Chia, Ruth;
- Saez‐Atienzar, Sara;
- Ruffo, Paola;
- Rasheed, Memoona;
- Ross, Jay P.;
- Liao, Calwing;
- Ray, Anindita;
- Dion, Patrick A.;
- Scholz, Sonja W.;
- Rouleau, Guy A.;
- Traynor, Bryan J.
Publication type:
Article
GRN Mutations Are Associated with Lewy Body Dementia.
Published in:
2022
By:
- Reho, Paolo;
- Koga, Shunsuke;
- Shah, Zalak;
- Chia, Ruth;
- Rademakers, Rosa;
- Dalgard, Clifton L.;
- Boeve, Bradley F.;
- Beach, Thomas G.;
- Dickson, Dennis W.;
- Ross, Owen A.;
- Scholz, Sonja W.;
- International LBD Genomics Consortium;
- American Genome Center
Publication type:
journal article
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
Published in:
Acta Neuropathologica, 2021, v. 142, n. 6, p. 985, doi. 10.1007/s00401-021-02374-4
By:
- Diaz-Garcia, Sandra;
- Ko, Vivian I.;
- Vazquez-Sanchez, Sonia;
- Chia, Ruth;
- Arogundade, Olubankole Aladesuyi;
- Rodriguez, Maria J.;
- Traynor, Bryan J.;
- Cleveland, Don;
- Ravits, John
Publication type:
Article
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Published in:
Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688
By:
- Johnson, Janel O;
- Pioro, Erik P;
- Boehringer, Ashley;
- Chia, Ruth;
- Feit, Howard;
- Renton, Alan E;
- Pliner, Hannah A;
- Abramzon, Yevgeniya;
- Marangi, Giuseppe;
- Winborn, Brett J;
- Gibbs, J Raphael;
- Nalls, Michael A;
- Morgan, Sarah;
- Shoai, Maryam;
- Hardy, John;
- Pittman, Alan;
- Orrell, Richard W;
- Malaspina, Andrea;
- Sidle, Katie C;
- Fratta, Pietro
Publication type:
Article
The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Published in:
Frontiers in Neuroscience, 2020, p. 1, doi. 10.3389/fnins.2020.00042
By:
- Abramzon, Yevgeniya A.;
- Fratta, Pietro;
- Traynor, Bryan J.;
- Chia, Ruth
Publication type:
Article
Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.
Published in:
Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-023-05725-x
By:
- Reho, Paolo;
- Saez-Atienzar, Sara;
- Ruffo, Paola;
- Solaiman, Sultana;
- Shah, Zalak;
- Chia, Ruth;
- Kaivola, Karri;
- Traynor, Bryan J.;
- Tilley, Bension S.;
- Gentleman, Steve M.;
- Hodges, Angela K.;
- Aarsland, Dag;
- Monuki, Edwin S.;
- Newell, Kathy L.;
- Woltjer, Randy;
- Albert, Marilyn S.;
- Dawson, Ted M.;
- Rosenthal, Liana S.;
- Troncoso, Juan C.;
- Pletnikova, Olga
Publication type:
Article
Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?
Published in:
2012
By:
- Rudenko, Iakov N;
- Chia, Ruth;
- Cookson, Mark R
Publication type:
journal article
Improving vaccination uptake in pediatric Cochlear implant recipients.
Published in:
Journal of Otolaryngology -- Head & Neck Surgery, 2018, v. 47, n. 1, p. N.PAG, doi. 10.1186/s40463-018-0308-5
By:
- Jin, Lisa;
- Téllez, Paula;
- Chia, Ruth;
- Lu, Daphne;
- Chadha, Neil K.;
- Pauwels, Julie;
- Dobson, Simon;
- Al Eid, Hazim;
- Kozak, Frederick K.
Publication type:
Article

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