Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Permalink
Citation
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 |
Files in this item
Total number of downloads: Loading...
| Files | Size | Format | View |
|---|---|---|---|
| 1_s2.0_S0002929716302300_main.pdf | 1.477Mb |
View/ |
This item appears in the following Collection(s)
-
Articles from TUHAT CRIS [46639]