Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Nature Neuroscience - Tập 18 Số 5 - Trang 631-636 - 2015
Axel Freischmidt1, Thomas Wieland2, Benjamin Richter3, Wolfgang Ruf1, Véronique Schaeffer3, Kathrin Müller1, Nicolai Marroquin1, Frida Nordin4, Annemarie Hübers1, Patrick Weydt1, Susana Pinto5, Rayomond Press6, Stéphanie Millecamps7, Nicolas Molko8, Émilien Bernard9, Claude Desnuelle10, Marie‐Hélène Soriani10, Johannes Dorst1, Elisabeth Graf2, Ulrika Nordström4, Marisa S. Feiler1, Stefan Putz11, Tobias M. Boeckers11, Thomas Meyer12, Andrea Sylvia Winkler13, Juliane Winkelman13, Mamede de Carvalho5, Dietmar Rudolf Thal14, Markus Otto1, Thomas Brännström15, Alexander E. Volk16, Petri Kursula17, Karin M. Danzer1, Peter Lichtner2, Ivan Đikić3, Thomas Meitinger18, Albert C. Ludolph1, Tim M. Strom18, Peter M. Andersen4, Jochen H. Weishaupt1
1Department of Neurology, Ulm University, Ulm, Germany
2Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
3Institute of Biochemistry II, Goethe University Medical School, Frankfurt, Germany
4Department of Pharmacology and Clinical Neurosience, Umeå University, Umeå, Sweden
5Institute of Physiology and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal
6Department of Neurology, Karolinska Hospital Huddinge, Stockholm, Sweden
7Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR7225, Inserm U1127, Sorbonne Universités, Université Pierre et Marie (UPMC) P6 UMRS1127, Paris, France
8Centre Hospitalier Territorial Gaston Bourret, Noumea, New Caledonia
9Centre de référence SLA, Hôpital Neurologique Pierre Wertheimer, CHU de Lyon, Bron, France
10Centre de Référence Maladies Neuromusculaires et SLA, Hôpital Archet, CHU de Nice, France
11Institute of Anatomy and Cell Biology, Ulm University, Faculty of Medicine, Ulm, Germany
12Charité University Hospital, Humboldt-University, Berlin, Germany
13Department of Neurology, Technical University of Munich, Munich, Germany
14Institute of Pathology, Laboratory of Neuropathology, Ulm University, Ulm, Germany
15Department of Medical Biosciences, Umeå University, Umeå, Sweden
16Institute of Human Genetics, Ulm University, Ulm, Germany
17University of Oulu Biocenter, Faculty of Biochemistry and Molecular Medicine, Oulu, Finland
18Institute of Human Genetics, Technische Universität München, Munich, Germany

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Nature Neuroscience

Tập 18 Số 5

631-636

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