Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia-Reference-Cited by-同舟云学术

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

Published:2021-04-01 Issue:7 Volume:131 Page:
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Mencacci Niccolò E.,Brockmann Marisa M.^ORCID,Dai Jinye^ORCID,Pajusalu Sander^ORCID,Atasu Burcu,Campos Joaquin,Pino Gabriela,Gonzalez-Latapi Paulina^ORCID,Patzke Christopher^ORCID,Schwake Michael^ORCID,Tucci Arianna,Pittman Alan,Simon-Sanchez Javier,Carvill Gemma L.,Balint Bettina,Wiethoff Sarah,Warner Thomas T.,Papandreou Apostolos^ORCID,Soo Audrey,Rein Reet,Kadastik-Eerme Liis,Puusepp Sanna,Reinson Karit,Tomberg Tiiu,Hanagasi Hasmet,Gasser Thomas,Bhatia Kailash P.^ORCID,Kurian Manju A.,Lohmann Ebba,Õunap Katrin^ORCID,Rosenmund Christian^ORCID,Südhof Thomas C.,Wood Nicholas W.,Krainc Dimitri,Acuna Claudio

Funder

national institute of health, DFG, Chica and Heinz Schaller Stiftung, NARSAD Young Investigator Award, Estonian Research Council

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/140625/files/pdf

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