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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

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Main Authors: Mencacci, Niccolò E. (Author) , Brockmann, Marisa M. (Author) , Dai, Jinye (Author) , Pajusalu, Sander (Author) , Atasu, Burcu (Author) , Campos, Joaquín (Author) , Pino, Gabriela (Author) , Gonzalez-Latapi, Paulina (Author) , Patzke, Christopher (Author) , Schwake, Michael (Author) , Tucci, Arianna (Author) , Pittman, Alan (Author) , Simon-Sanchez, Javier (Author) , Carvill, Gemma L. (Author) , Balint, Bettina (Author) , Wiethoff, Sarah (Author) , Warner, Thomas T. (Author) , Papandreou, Apostolos (Author) , Soo, Audrey (Author) , Rein, Reet (Author) , Kadastik-Eerme, Liis (Author) , Puusepp, Sanna (Author) , Reinson, Karit (Author) , Tomberg, Tiiu (Author) , Hanagasi, Hasmet (Author) , Gasser, Thomas (Author) , Bhatia, Kailash P. (Author) , Kurian, Manju A. (Author) , Lohmann, Ebba (Author) , Õunap, Katrin (Author) , Rosenmund, Christian (Author) , Südhof, Thomas C. (Author) , Wood, Nicholas W. (Author) , Krainc, Dimitri (Author) , Acuna, Claudio (Author)
Format: Article (Journal)
Language:English
Published: April 1, 2021
In: The journal of clinical investigation
Year: 2021, Volume: 131, Issue: 7, Pages: 1-14
ISSN:1558-8238
DOI:10.1172/JCI140625
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1172/JCI140625
Verlag, lizenzpflichtig, Volltext: https://www.jci.org/articles/view/140625
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Author Notes:Niccolò E. Mencacci, Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquin Campos, Gabriela Pino, Paulina Gonzalez-Latapi, Christopher Patzke, Michael Schwake, Arianna Tucci, Alan Pittman, Javier Simon-Sanchez, Gemma L. Carvill, Bettina Balint, Sarah Wiethoff, Thomas T. Warner, Apostolos Papandreou, Audrey Soo, Reet Rein, Liis Kadastik-Eerme, Sanna Puusepp, Karit Reinson, Tiiu Tomberg, Hasmet Hanagasi, Thomas Gasser, Kailash P. Bhatia, Manju A. Kurian, Ebba Lohmann, Katrin Õunap, Christian Rosenmund, Thomas C. Südhof, Nicholas W. Wood, Dimitri Krainc, and Claudio Acuna
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Item Description:Gesehen am 06.09.2021
Physical Description:Online Resource
ISSN:1558-8238
DOI:10.1172/JCI140625

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