Kelly L Williams

Kelly L Williams

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Kelly L Williams

Kelly L Williams

Publications by authors named "Kelly L Williams"

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36Publications

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Implementation of Informatics to Support the NIH Research Program in a Healthcare Provider Organization.

AMIA Jt Summits Transl Sci Proc 2019 6;2019:602-609. Epub 2019 May 6.

Information Technologies & Services Department, Weill Cornell Medicine, New York, NY.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6568061PMC
May 2019

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2017 11;17(6):304-312. Epub 2017 Nov 11.

Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

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http://dx.doi.org/10.1159/000481258DOI Listing
July 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

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

Cell Mol Life Sci 2018 01 29;75(2):335-354. Epub 2017 Aug 29.

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, 2 Technology Place, North Ryde, NSW, 2109, Australia.

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http://dx.doi.org/10.1007/s00018-017-2632-8DOI Listing
January 2018

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Hum Mol Genet 2017 09;26(17):3452

Department of Biomedical Sciences, Faculty of Medicine & Health Sciences, Macquarie University, NSW 2109, Australia.

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http://dx.doi.org/10.1093/hmg/ddx268DOI Listing
September 2017

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb 18;18(1-2):126-133. Epub 2016 Aug 18.

a Faculty of Medicine and Health Sciences , Macquarie University , Sydney , New South Wales , Australia.

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http://dx.doi.org/10.1080/21678421.2016.1218517DOI Listing
February 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Neurobiol Aging 2015 Dec 18;36(12):3334.e1-3334.e5. Epub 2015 Aug 18.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.013DOI Listing
December 2015

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Hum Mol Genet 2015 Jul 9;24(13):3830-46. Epub 2015 Apr 9.

Department of Biomedical Sciences, Faculty of Medicine & Health Sciences, Macquarie University, NSW 2109, Australia and Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Victoria 3086, Australia

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http://dx.doi.org/10.1093/hmg/ddv126DOI Listing
July 2015

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Neurobiol Aging 2015 Mar 20;36(3):1602.e1-2. Epub 2014 Nov 20.

Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.11.010DOI Listing
March 2015

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2013 Sep 28;34(9):2235.e7-10. Epub 2013 Apr 28.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.04.003DOI Listing
September 2013

Pathophysiological insights into ALS with C9ORF72 expansions.

J Neurol Neurosurg Psychiatry 2013 Aug 5;84(8):931-5. Epub 2013 Mar 5.

Australian School of Advanced Medicine, Macquarie University, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2012-304529DOI Listing
August 2013

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Oct 19;33(10):2527.e3-10. Epub 2012 Jun 19.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.05.008DOI Listing
October 2012

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2012 Sep 16;13(5):465-70. Epub 2012 Mar 16.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.3109/17482968.2012.662690DOI Listing
September 2012

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Jul 22;33(7):1488.e15-6. Epub 2011 Dec 22.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, 2139, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.11.022DOI Listing
July 2012

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Jan 19;33(1):210.e9-10. Epub 2011 Oct 19.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139, Australia.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.09.023DOI Listing
January 2012

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

J Neurol Neurosurg Psychiatry 2010 Jun 3;81(6):639-45. Epub 2009 Dec 3.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord Hospital, Sydney, Australia.

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http://dx.doi.org/10.1136/jnnp.2009.194399DOI Listing
June 2010

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

Science 2008 Mar 28;319(5870):1668-72. Epub 2008 Feb 28.

Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK.

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http://dx.doi.org/10.1126/science.1154584DOI Listing
March 2008