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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Journal Article published Sep 2016 in The American Journal of Human Genetics volume 99 issue 3 on pages 735 to 743

Research funded by Arvo and Lea Ylppö Foundation | Aatos and Jane Erkko Foundation | Stockholms Läns Landsting (K0176-2012, 20140053) | European Research Council (309548) | Knut & Alice Wallenberg Foundation (KAW 20130026) | Sigrid Juséliuksen Säätiö | Juniorverbund in der Systemmedizin “mitOmics” (FKZ 01ZX1405C) | European Commission 7th Framework Programme (FP7/2007-2013, HEALTH-F2-2011, 277984) | GENOMIT (01GM1207) | Medical Research Council (G1000848) | Helsinki University | Academy of Finland | Ragnar Söderberg fellow (M77/13) | Wellcome Trust Investigator (109915/Z/15/Z) | Stiftelsen för Strategisk Forskning (ICA 12-0017) | Svenska Forskningsrådet Formas (VR521-2012-2571, K2014-54X-20642-13-3) | The Swedish Brain Foundation (FO2015-0146) | Telethon Network of Genetic Biobanks (GTB12001J) | Lastentautien Tutkimussäätiö | mitoNET (01GM1113A-E)

Authors: Tobias B. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan A. Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, Thomas Klopstock