The evolving genetic risk for sporadic ALS
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Article Information
- Received December 8, 2016
- Accepted in final form March 17, 2017
- First Published June 22, 2017.
Article Versions
- Previous version (June 22, 2017 - 09:19).
- You are viewing the most recent version of this article.
Author Disclosures
- Summer B. Gibson, MD*,
- Jonathan M. Downie, BS*,
- Spyridoula Tsetsou, MD,
- Julie E. Feusier, BS,
- Karla P. Figueroa, MS,
- Mark B. Bromberg, MD, PhD,
- Lynn B. Jorde, PhD† and
- Stefan M. Pulst, MD, DrMed†
- Summer B. Gibson, MD*,
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(1) Skin Biopsy for the Evaluation of Peripheral Nerve Disease. UpToDate. Sept 2013. (2) Amyotrophic lateral sclerosis. Medlink. June 2016
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(1) Ogden Surgical-Medical Society 2014 annual meeting
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(1) NCATS, TL1TR001066, Trainee, 09/03/2014 - 06/30/2016 Stock/Stock Options, Medical Equipment & Materials: (1) Recursion Pharmaceuticals, 2013-current
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- Jonathan M. Downie, BS*,
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(1) National Institute of General Medical Sciences, GM059290, Graduate Research Assistant, 2015-current (2) National Institute of General Medical Sciences, GM118335, Graduate Research Assistant, 2016-current
(1) University of Utah Neuroscience Initiative Collaborative Pilot Project Grant
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- Spyridoula Tsetsou, MD,
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- Julie E. Feusier, BS,
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- Karla P. Figueroa, MS,
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- Mark B. Bromberg, MD, PhD,
Accordant Health Care (1995-present) Baxter Bioscience (2011-present)
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Funds for travel and and speaker honoraria: Grifols Biotherapeutics (2009-present) Baxter Bioscience (2011-present) Sanofi (2017-present)
Muscle & Nerve, Assistant Editor (1996-1999; 2005-2009; 2016- present) Clinical Neurophysiology, Assistant Editor (2008-2014) J Clinical Neuromuscular Diseases, Assistant Editor (1998-present)
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Handbook of Peripheral Neuropathy, Taylor & Francis, 2005 Quality of Life Measurement in Neurodegenerative and Related Conditions, Cambridge, 2010 UpToDate, 2008 to present Motor Neuron Disease in Adults, 2014
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Grifols Biotherapeutics (2009-present) Genzyme (2015-present)
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- Lynn B. Jorde, PhD† and
Telethon Italy; nonprofit
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Genetics; associate editor
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Medical Genetics; Elsevier; 2016
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NIH -- multiple grants from NIGMS
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- Stefan M. Pulst, MD, DrMed†
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editorial boards: Journal of Cerebellum, NeuroMolecular Medicine, Experimental Neurology, Neurogenetics, Nature Clinical Practice Neurology Editor-in-Chief: Neurology: Genetics
Nucleic acids encoding ataxin-2 binding proteins; Nucleic acid encoding Schwannomin-binding-proteins and products related thereto; Transgenic mouse expressing a polynucleotide encoding a human ataxin-2 polypeptide; Methods of detecting spinocerebellar ataxia-2 nucleic acids; Nucleic acid encoding spinocerebellar ataxia-2 and products related thereto; Shwannomin-binding-proteins; Compositions and methods for spinocerebellar ataxia
The Ataxias (Churchill Livingston, 2007), Genetics in Neurology (ANN Press, 2005), Genetics of Movement Disorders (Academic Press, 2003), Neurogenetics (Oxford University Press, 2000), Molecular Genetic Testing in Neurology, 2nd - 5th (AAN Press, 1996)
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Ataxion Therapeutics
Athena Diagnostics, Inc.
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(1) 2010-2012 National Institutes of Health (RC1NS068897): CLINICAL RESEARCH CONSORTIUM FOR SPINOCEREBELLAR ATAXIAS, 9/1/2009-8/31/2012 (Principal Investigator of genomics core and site PI). (2) 2010-2013 National Institutes of Health (RC4NS073009): Drug discovery for Spinocerebellar ataxia type 2 (SCA2). 9/1/2010-8/31/2013 (Principle Investigator, Co-PI, D. Scoles). (3) 2013-2015 National Institutes of Health (R21NS081182): Antisense oligonucleotides for the treatment of spinocerebellar ataxia type 2. 07/01/2013 to 06/30/2015 (Co-PI with D. Scoles). (4) 2013-2016 National Institutes of Health (R21NS079852): Identification of a mutation causing Purkinje cell degeneration in the rat. 03/01/2013 to 02/28/2016. (Principle Investigator). (5) 2014-2021 National Institutes of Health (RO1NS33123): Spinocerebellar ataxia type 2: gene and gene product. 9/30/14-6/30/2021. (Principal Investigator).
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National Ataxia foundation (mentor for fellowship award)
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Cedars-Sinai Medical Center
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- From the Departments of Neurology (S.B.G., S.T., K.P.F., M.B.B., S.M.P.) and Human Genetics (J.M.D., J.E.F., L.B.J.), University of Utah School of Medicine, Salt Lake City.
- Correspondence to J.M. Downie: jonathan.downie{at}hsc.utah.edu
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