Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
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Article Information
- Received June 11, 2018
- Accepted in final form August 21, 2018
- First Published October 22, 2018.
Author Disclosures
- Nataly I. Montes-Chinea, MD,
- Zhuo Guan, PhD,
- Marcella Coutts, MD,
- Cecilia Vidal, MD,
- Steve Courel, BS,
- Adriana P. Rebelo, PhD,
- Lisa Abreu, MPH,
- Stephan Zuchner, MD, PhD,
- J. Troy Littleton, PhD and
- Mario A. Saporta, MD, PhD
- Nataly I. Montes-Chinea, MD,
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- Zhuo Guan, PhD,
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- Marcella Coutts, MD,
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- Cecilia Vidal, MD,
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- Steve Courel, BS,
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- Adriana P. Rebelo, PhD,
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- Lisa Abreu, MPH,
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- Stephan Zuchner, MD, PhD,
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- J. Troy Littleton, PhD and
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NIH R01 #NS40296, PI, ?Characterization of the Drosophila Synaptotagmin Family? (7/1/2000-4/30/2016). NIH R01 #MH104536, PI, ?Imaging Synaptic Transmission of Individual Active Zones? (7/1/2014-6/30/2019). NIH R01 #MH099557, Co-PI, ?Computational and Functional Characterization of the Molecular Steps in Membrane Fusion? (7/16/2012-3/31/2017). NIH R21 #MH097680, PI ?Using Drosophila to Characterize the Molecular Pathogenesis of Autism? (4/1/2013-3/31/2016).
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- Mario A. Saporta, MD, PhD
(1) Charcot-Marie-Tooth Association Scientific Advisory Board (2) Acceleron Data Safety Monitoring Board
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(1) Journal of the Peripheral Nervous System, editorial board member, 2017-current.
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(1) Alnylam, (2) Strongbridge, (3) Biogen, (4) Serepta
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(1) Charcot-Marie-Tooth Association
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- From the Department of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
- Correspondence
Dr. Saporta mas638{at}med.miami.edu
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