Oligogenic basis of sporadic ALS
The example of SOD1 p.Ala90Val mutation
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Article Information
- Received January 7, 2019
- Accepted in final form April 1, 2019
- First Published April 23, 2019.
Author Disclosures
- Liina Kuuluvainen, MD,
- Karri Kaivola, MD,
- Saana Mönkäre, MSc,
- Hannu Laaksovirta, MD,
- Manu Jokela, MD, PhD,
- Bjarne Udd, MD, PhD,
- Miko Valori, MSc,
- Petra Pasanen, PhD,
- Anders Paetau, MD, PhD,
- Bryan J. Traynor, MD, PhD,
- David J. Stone, PhD,
- Johanna Schleutker, PhD,
- Minna Pöyhönen, MD, PhD,
- Pentti J. Tienari, MD, PhD* and
- Liisa Myllykangas, MD, PhD*
- Liina Kuuluvainen, MD,
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(1)The Finnish Medical Foundation
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- Karri Kaivola, MD,
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(1) The Finnish Medical Foundation, (2) Maire Taponen Foundation, (3) The Finnish Cultural Foundation
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- Saana Mönkäre, MSc,
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- Hannu Laaksovirta, MD,
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- Manu Jokela, MD, PhD,
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- Bjarne Udd, MD, PhD,
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Neuromuscular Disorders, editorial board member, 14 years and associate executive Editor 4 years
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Finnish Academy grant for the study of distal myopathies 2005-2010 Finnish Academy grant for the study of distal myopathies 2011-2014 Finnish Academy grant for the study of titinopathies 2015-2019
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the Sigrid Juselius foundation grant for the study of distal myopathies 2017-2019 the Jane and Aatos Erkko foundation for NGS in undetermined myopathies 2018-20
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- Miko Valori, MSc,
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Blueprint Genetics, bioinformatician
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- Petra Pasanen, PhD,
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- Anders Paetau, MD, PhD,
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- Bryan J. Traynor, MD, PhD,
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(1) The Italian Football Federation (FIGC), travel expenses; (2) American Academy of Neurology, travel expenses; (3) Cold Spring Harbor Laboratories, travel expenses; (4) The Italian ALS Association (ARISLA), travel expenses; (5) Movement Disorders Society, travel expenses; (6) Wellcome Trust, travel expenses; (7) The Finnish Neurological Society, travel expenses; (8) The NorthEast ALS Consortium (NEALS), travel expenses; (9) UC Irivine, travel expenses; (10) The ALS Hope Foundation, travel expenses; (11) The ALS Association, travel expenses; (12) The American Academy of Neurology, travel expenses; (13) The Motor Neuron Association (UK), travel expenses; (14) Microsoft Research, travel expenses; (15) The Italian Neurological Society, travel expenses; (16) The University of Toronto, travel expenses; (17) The International Congress of Human Genetics, travel expenses; (18) Society for Neuroscience, travel expenses; (19) University of Albany, travel expenses
Neurology, editorial board, 2011-2011 Journal of Neurology, Neurosurgery, and Psychiatry, editorial board, 2013 - ongoing Neurobiology of Aging, editorial board, 2015 - JAMA Neurology, 2017 -
I hold the European, Canadian and US patents on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of the C9ORF72 gene.
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National Institutes of Health
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(1) Merck Inc;
(1) Intramural Research Program of the NIH (where I work).
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(1) The Myasthenia Gravis Foundation; (2) the ALS Association; (3) The Packard Center for ALS Research; (4) FIGC (The Italian Football Federation); (5) the Center for Disease Control and Prevention; (6) Microsoft Research; (7) The Italian ALS Association (ARISLA); (8) The Muscular Dystrophy Association;
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- David J. Stone, PhD,
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Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA. Scientist 15 years
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- Johanna Schleutker, PhD,
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Academy of Finland, #310115, PI, 2017-2021
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Cancer Foundation Finland sr Jane and Aatos Erkko Foundation Sigrid Juselius Foundation
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- Minna Pöyhönen, MD, PhD,
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- Pentti J. Tienari, MD, PhD* and
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Funding for congress travel: TEVA, Merck (Europe), Biogen, Sanofi-Genzyme, Novartis. Speaker honoraria: Biogen, Merck (Europe), TEVA, Novartis, Sanofi-Genzyme, Orion, Roche, Pfizer.
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Pentti Tienari is one of the inventors in a patent on the genetic testing of the hexanucleotide repeat expansion of C9orf72 implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
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1. Investigator initiated grants from Biogen Finland, Roche, Novartis Finland, Sanofi-Genzyme. 2. Whole-genome sequencing of the ALS cohort and Vantaa85+ brain aging cohort has been supported by Merck & Co, Inc., USA.
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1. Helsinki University Hospital EVO-grants TYH2017254, TYH2018231 and TYH2019258.
Sigrid Juselius Foundation grant 2018-2020.
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- Liisa Myllykangas, MD, PhD*
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Journal of Alzheimer's Disease: Associate Editor 2012 & 2017.
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1. Whole-genome analysis of the Helsinki cohort was performed by Merck.
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- From the Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
- Correspondence
Dr. Myllykangas email.liisa.myllykangas{at}helsinki.fi
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