Ruth Chia

Ruth Chia

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Ruth Chia

Ruth Chia

Publications by authors named "Ruth Chia"

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiol Aging 2019 04 17;76:214.e1-214.e9. Epub 2018 Nov 17.

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391207PMC
April 2019

Improving vaccination uptake in pediatric Cochlear implant recipients.

J Otolaryngol Head Neck Surg 2018 Sep 17;47(1):56. Epub 2018 Sep 17.

Faculty of Medicine, University of British Columbia, 317-2194 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.

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http://dx.doi.org/10.1186/s40463-018-0308-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142635PMC
September 2018

Health-Related Quality of Life Among Young Children With Cochlear Implants and Developmental Disabilities.

Ear Hear 2017 Jul/Aug;38(4):399-408

1Department of School Counseling and Special Education, Tel Aviv University, Tel Aviv, Israel; 2Human Early Learning Partnership, University of British Columbia, Vancouver, BC, Canada; 3Department of Educational and Counselling Psychology, and Special Education, University of British Columbia, Vancouver, BC, Canada; 4British Columbia Children's Hospital, Vancouver, BC, Canada; and 5Department of Surgery, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1097/AUD.0000000000000410DOI Listing
May 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Lancet Neurol 2018 01 16;17(1):94-102. Epub 2017 Nov 16.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Brain Sciences Institute, Johns Hopkins Hospital, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/S1474-4422(17)30401-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901717PMC
January 2018

The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2.

Biochem J 2017 04 24;474(9):1547-1558. Epub 2017 Apr 24.

Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, 35 Convent Drive, Room 1A-116, Bethesda, MD 20892-3707, U.S.A.

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http://dx.doi.org/10.1042/BCJ20160909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178381PMC
April 2017

Critical periods after stroke study: translating animal stroke recovery experiments into a clinical trial.

Front Hum Neurosci 2015 29;9:231. Epub 2015 Apr 29.

Department of Rehabilitation Medicine, Center for Brain Plasticity and Recovery, Georgetown University and MedStar National Rehabilitation Hospital Washington, DC, USA ; Department of Neurology, Georgetown University Washington, DC, USA.

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http://dx.doi.org/10.3389/fnhum.2015.00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413691PMC
May 2015

Cochlear implantation among deaf children with additional disabilities: parental perceptions of benefits, challenges, and service provision.

J Deaf Stud Deaf Educ 2015 Jan 15;20(1):41-50. Epub 2014 Sep 15.

University of British Columbia, and BC Children's Hospital.

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http://dx.doi.org/10.1093/deafed/enu030DOI Listing
January 2015

Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.

Nat Commun 2014 Dec 15;5:5827. Epub 2014 Dec 15.

Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, Bethesda, Maryland 20892-3707, USA.

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http://dx.doi.org/10.1038/ncomms6827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4268884PMC
December 2014

Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.

J Biol Chem 2014 Aug 18;289(31):21386-400. Epub 2014 Jun 18.

From the Reta Lila Weston Institute of Neurological Studies, University College London Institute of Neurology, London WC1N 1PJ, United Kingdom, the Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BJ, United Kingdom,

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http://dx.doi.org/10.1074/jbc.M113.528463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118103PMC
August 2014

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.

Proc Natl Acad Sci U S A 2014 Feb 7;111(7):2626-31. Epub 2014 Feb 7.

Cell Biology and Gene Expression Section, Computational Biology Core, Laboratory of Neurogenetics, and Molecular Genetics Section, National Institute on Aging/National Institutes of Health, Bethesda, MD 20892.

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http://dx.doi.org/10.1073/pnas.1318306111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932908PMC
February 2014

The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.

Biochem J 2012 Aug;446(1):99-111

Cell Biology and Gene Expression Section, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1042/BJ20120637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667980PMC
August 2012

Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?

BMC Med 2012 Feb 23;10:20. Epub 2012 Feb 23.

Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Room 1A-116, Bethesda, MD 20892-3707, USA.

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http://dx.doi.org/10.1186/1741-7015-10-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308210PMC
February 2012

A test of static and dynamic balance function in children with cochlear implants: the vestibular olympics.

Arch Otolaryngol Head Neck Surg 2008 Jan;134(1):34-8

Department of Otolaryngology-Head and Neck Surgery, University of Toronto, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1001/archoto.2007.16DOI Listing
January 2008

The origins and uses of mouse outbred stocks.

Nat Genet 2005 Nov;37(11):1181-6

Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://www.nature.com/articles/ng1665
Publisher Site
http://dx.doi.org/10.1038/ng1665DOI Listing
November 2005

The SOD1 transgene in the G93A mouse model of amyotrophic lateral sclerosis lies on distal mouse chromosome 12.

Amyotroph Lateral Scler Other Motor Neuron Disord 2005 Jun;6(2):111-4

Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1080/14660820510035351DOI Listing
June 2005