Yevgeniya Abramzon

Yevgeniya Abramzon

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Yevgeniya Abramzon

Yevgeniya Abramzon

Publications by authors named "Yevgeniya Abramzon"

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19Publications

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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

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

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Muscle Nerve 2017 Nov 23;56(5):1001-1005. Epub 2017 Mar 23.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://doi.wiley.com/10.1002/mus.25550
Publisher Site
http://dx.doi.org/10.1002/mus.25550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494018PMC
November 2017

To Dement or Not to Dement, That Is the Question.

JAMA Neurol 2016 Apr;73(4):383-4

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland3Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neu.

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http://dx.doi.org/10.1001/jamaneurol.2015.4984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810547PMC
April 2016

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://www.viverelamiastenia.it/file/JAMA%20Neurology_MG%20G
Web Search
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2014.4103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Neurobiol Aging 2012 Oct 20;33(10):2527.e1-2. Epub 2012 Jun 20.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545506PMC
October 2012

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Sep 8;33(9):2231.e1-2231.e6. Epub 2012 May 8.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391327PMC
September 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011