Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes
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Article Information
- Received January 19, 2017
- Accepted in final form March 14, 2017
- First Published May 3, 2017.
Author Disclosures
- Yoshiteru Azuma, MD, PhD,
- Ana Töpf, PhD,
- Teresinha Evangelista, MD,
- Paulo José Lorenzoni, MD, PhD,
- Andreas Roos, PhD,
- Pedro Viana, MD,
- Hidehito Inagaki, PhD,
- Hiroki Kurahashi, MD, PhD and
- Hanns Lochmüller, MD
- Yoshiteru Azuma, MD, PhD,
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- Ana Töpf, PhD,
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- Teresinha Evangelista, MD,
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- Paulo José Lorenzoni, MD, PhD,
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CNPq - Brazil, postdoctoral fellowship, 2015-2016
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- Andreas Roos, PhD,
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- Pedro Viana, MD,
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- Hidehito Inagaki, PhD,
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- Hiroki Kurahashi, MD, PhD and
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- Hanns Lochmüller, MD
(1) German Duchenne parents project (2)IRDiRC Interdisciplinary Scientific Committee (3)German Muscular Dystrophy Network (4) Myotubular Trust Patient Registry (5) Action Duchenne Patient Registry (6) German Patient Registries on DMD and SMA
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(1)PTC Therapeutics Inc, honorarium for lecture at satellite symposium ICNMD Nice 2014 and travel paid to Newcastle University (2)Ultragenyx Pharmaceutical Inc., travel
(1) Journal of Neuromuscular Diseases, Editor in Chief, 2014- current (2)Journal of Neurology, Editorial Board Member, 2007- current
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(1)Roche Pharmaceuticals (paid to Newcastle University) (2)ASD Therapeutics Partners LLC (paid to Newcastle University) (3)IOS Press (paid to Newcastle University) (4)Alexion Pharmaceuticals Inc.(paid to Newcastle University) (5)Ultragenyx Pharmaceutical Inc.(paid to Newcastle University) (6) Fondazione Cariplo (paid to Newcastle University)
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(1) Marigold Foundation Ltd (2)Ultragenyx Pharmaceutical Inc (3)PTC Therapeutics Inc (4)Eli Lilly and co (5)Action Benni & Co e.v (6)GSK (GlaxoSmithKline) (7)Trophos SA
(1)European Commission (RD-Connect), 305444, Coordinator, 2012-2018 (2) European Commission (OPTIMISTIC), 305697, co- investigator, 2012-2016 (3)European Commission (NeurOmics), 305121, co-investigator, 2012-2017 (4)Medical Research Council (MRC) G1002274, 98482, co-investigator, 2015-2016 (5)Medical Research Council (MRC), co-investigator, 2013- 2018 (6)National Institute for Health Research (NIHR)PD00402, 2015-2017
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(1)Action Duchenne, (2) Association Francaise Contre les Myopathies (3)British Heart Foundation (4)Muscular Dytrophy UK (5)National Cancer Institute (6) Spinal Muscular Atrophy Support UK (7)Wellcome Trust (8)Jennifer Trust (9)Duchenne Parent Project
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- From the Institute of Genetic Medicine (Y.A., A.T., T.E., P.J.L., A.R., H.L.), Newcastle University, UK; Division of Neurology (P.J.L.), Federal University of Parana, Brazil; Leibniz-Institut für Analytische Wissenschaften ISAS e.V. (A.R.), Germany; Department of Neurosciences and Mental Health (P.V.), University of Lisbon, Portugal; and Division of Molecular Genetics (H.I., H.K.), Fujita Health University, Japan.
- Correspondence to Dr. Lochmüller: hanns.lochmuller{at}newcastle.ac.uk
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