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

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

Author: Mencacci, Niccolo E.; Brockmann, Marisa M.; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L.; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T.; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P.; Kurian, Manju A.; Lohmann, Ebba; Ounap, Katrin; Rosenmund, Christian; Sudhof, Thomas C.; Wood, Nicholas W.; Krainc, Dimitri; Acuna, Claudio
Tübinger Autor(en):
Atasu, Burcu
Simon-Sanchez, Javier
Wiethoff, Sarah
Gasser, Thomas
Lohmann, Ebba
Published in: Journal of Clinical Investigation (2021), Bd. 131 (7), Article e140625
Verlagsangabe: Amer Soc Clinical Investigation Inc
Language: English
Full text: http://dx.doi.org/10.1172/JCI140625
ISSN: 1558-8238
DDC Classifikation: 610 - Medicine and health
Dokumentart: Artikel
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