Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
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Article Information
- Received November 7, 2019
- Accepted in final form March 15, 2020
- First Published May 20, 2020.
Author Disclosures
- Dona Aboud Syriani,
- Darice Wong, PhD,
- Sameer Andani, BS,
- Claudio M. De Gusmao, MD,
- Yuanming Mao, BS,
- May Sanyoura, PhD,
- Giacomo Glotzer,
- Paul J. Lockhart, PhD,
- Sharon Hassin-Baer, MD,
- Vikram Khurana, MD, PhD,
- Christopher M. Gomez, MD, PhD,
- Susan Perlman, MD,
- Soma Das, PhD and
- Brent L. Fogel, MD, PhD
- Dona Aboud Syriani,
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- Darice Wong, PhD,
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- Sameer Andani, BS,
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- Claudio M. De Gusmao, MD,
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Research support from the National Ataxia Foundation
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Research support from the National Ataxia Foundation; Research Support from the Ataxia-Teleangiectasia Children's Project
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- Yuanming Mao, BS,
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- May Sanyoura, PhD,
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- Giacomo Glotzer,
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- Paul J. Lockhart, PhD,
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(1) Genetics Research International, Editorial board member, 2010-2017 (2) Open Access (OA) Genetics, Editorial board member, 2012-2016 (3) Journal of Neurochemistry, Handling Editor, 2018-current
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1. National Health and Medical Research Council (Australia) Project grant APP1144724 2018-2020. 2. National Health and Medical Research Council (Australia) Project grant APP1128933 2017-2018. 3. National Health and Medical Research Council (Australia) Project grant APP1098255 2016-2020. 4. National Health and Medical Research Council (Australia) Project grant APP1144724 2018-2020.
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Michael J Fox Foundation, Project Grant 12173, 2016-2017
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- Sharon Hassin-Baer, MD,
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Funding for travel or speaker honoraria FROM ABBVIE, MEDISON, ALLERGAN, IBSEN,
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I have received consultancy fees from Abbvie, TEVA, ALLERGAN and Medtronic.
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Chief scientist of the Ministry of Commerce and science: study on mild cognitive impairment in Parkinson's disease
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- Vikram Khurana, MD, PhD,
Co-Founder, equity holding and adviser in Yumanity Theraepeutics (myself and spouse) Scientific Advisory Board, Enclear Therapies
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(1) Yeast to human stem cell discovery platform for neurodegenerative proteinopathies (2) Transposenet: Cross-species tool for mapping molecular networks
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Yumanity Therapeutics, Senior Adviser, 4
1) Yumanity Therapeutics 2) Enclear Therapies 3) Lundbeck 4) Seelos 5) Moderna 6) Astellas 7) DSI
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Yumanity Therapeutics (spouse's employer)
1) National Institutes of Health (NINDS), R21 NS112858 , PI, 2 year 2) Department of Defense, W81XWH1910695, PI, 3 year
Brigham and Women's Hospital
New York Stem Cell Foundation Multiple System Atrophy Coalition National Ataxia Foundation Harvard Neurodiscovery Center
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1) Engineered Human Stem-Cell Lines, Yumanity Therapeutics 2) Engineered U20S Cell lines, Yumanity Therapeutics
As above (see patent applications)
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- Christopher M. Gomez, MD, PhD,
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PCT/US16/45492 Priority date: 08/04/2015 Status:awarded
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pending APDM
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Biogen Pfizer
NIH/NINDS R01NS082788-06 NIH/NINDS R01NS082788
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- Susan Perlman, MD,
(1) National Ataxia Foundation Medical Research Advisory Board.
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(1) UCLA Medical Center, fulltime staff physician
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(1) Santhera Phamaceuticals (2) Edison Pharmaceuticals (3) Viropharma Pharmaceuticals (4) Horizon Pharmaceuticals (5) Reata Pharmaceuticals (6) Biohaven Pharmaceuticals (7) Teva Pharmaceuticals (8) Takeda Pharmaceuticals (9) Cadent Pharmaceuticals
(1) ARRAS funding via the RDN-CRC, subcontracted from University of Florida, PI at UCLA for the study 2009-2011
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(1) Friedreich Ataxia Research Alliance (2) National Ataxia Foundation
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- Soma Das, PhD and
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NIH/NHGRI, 2 U41 HG006834-04, 09/23/13 Â 07/31/21, ÂClinical Genome ResourceÂ, Soma Das, Ph.D., Co-Investigator (10% effort); H. Rehm, PhD., Principal Investigator, Annual direct cost: $1,803,751
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- Brent L. Fogel, MD, PhD
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1. American Academy of Neurology, Speaker Honoraria 2. National Ataxia Foundation, Travel
1. Neurology:Genetics, Editorial Board, 2 years 2. Neurology Today, Editorial Board, 4 years
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1. NIH/NINDS R01 NS082094 (PI Fogel) 04/2013 - 03/2019
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National Ataxia Foundation (PI Fogel) 1/2019-12/2022
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- From the Department of Neurology (D.A.S., D.W., Y.M., S.P., B.L.F.), Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (D.W., B.L.F.), Clinical Neurogenomics Research Center, David Geffen School of Medicine, University of California, Los Angeles; Department of Human Genetics (S.A., M.S., S.D.), University of Chicago, IL; Department of Neurology (C.M.D.G., V.K.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (G.G., C.M.G.), University of Chicago, IL; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; Department of Paediatrics (P.J.L.), University of Melbourne, Parkville, Australia; Sackler Faculty of Medicine (S.H.-B.), Tel-Aviv University, Tel-Aviv, Israel; and Department of Human Genetics (B.L.F.), David Geffen School of Medicine, University of California, Los Angeles.
- Correspondence
Dr. Fogel bfogel{at}ucla.edu or Dr. Das sdas{at}bsd.uchicago.edu
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