Genetic analysis of age at onset variation in spinocerebellar ataxia type 2
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Article Information
- Received January 3, 2017
- Accepted in final form April 3, 2017
- First Published May 15, 2017.
Author Disclosures
- K.P. Figueroa, MS,
- Hilary Coon, PhD,
- Nieves Santos, MS,
- Luis Velazquez, MD, PhD, DrSc,
- Luis Almaguer Mederos, PhD and
- Stefan M. Pulst, MD, Dr med
- K.P. Figueroa, MS,
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- Hilary Coon, PhD,
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1) NIMH, R01MH099134, PI, 9/1/2013 - 8/31/2018 2) NIMH, R01MH094400, PI, 5/1/2012 - 2/28/2018
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1) Simons Foundation, grant #388196
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- Nieves Santos, MS,
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- Luis Velazquez, MD, PhD, DrSc,
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- Luis Almaguer Mederos, PhD and
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- Stefan M. Pulst, MD, Dr med
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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
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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 Department of Neurology (K.P.F., S.M.P.), Department of Psychiatry (H.C.), University of Utah, Salt Lake City; Department of Surgery (N.S.), University of Miami, FL; and Center for the Research and Rehabilitation of Hereditary Ataxias (L.V., L.A.M.), Holguin, Cuba.
- Correspondence to Dr. Pulst: stefan.pulst{at}hsc.utah.edu
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