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

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Haack , T B , Ignatius , E , Calvo-Garrido , J , Iuso , A , Isohanni , P , Maffezzini , C , Lönnqvist , T , Suomalainen , A , Gorza , M , Kremer , L S , Graf , E , Hartig , M , Berutti , R , Paucar , M , Svenningsson , P , Stranneheim , H , Brandberg , G , Wedell , A , Kurian , M A , Hayflick , S A , Venco , P , Tiranti , V , Strom , T M , Dichgans , M , Horvath , R , Holinski-Feder , E , Freyer , C , Meitinger , T , Prokisch , H , Senderek , J , Wredenberg , A , Carroll , C J & Klopstock , T 2016 , ' Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy ' , American Journal of Human Genetics , vol. 99 , no. 3 , pp. 735-743 . https://doi.org/10.1016/j.ajhg.2016.06.026

Title: Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Author: Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Goran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J.; Klopstock, Thomas
Contributor organization: Research Programme for Molecular Neurology
Research Programs Unit
Clinicum
Children's Hospital
Lastenneurologian yksikkö
Anu Wartiovaara / Principal Investigator
HUS Children and Adolescents
Date: 2016
Language: eng
Number of pages: 9
Belongs to series: American Journal of Human Genetics
ISSN: 0002-9297
DOI: https://doi.org/10.1016/j.ajhg.2016.06.026
URI: http://hdl.handle.net/10138/228036
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
3123 Gynaecology and paediatrics
3111 Biomedicine
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion


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