Bi-allelic variants inTSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia
Authors
Niccolò Mencacci,
Marisa BrockmannJinye Dai,
Sander Pajusalu,
Burcu Atasu,
Paulina Gonzàlez‐Latapi,
Christopher Patzke,
Michael Schwake,
Arianna Tucci,
Alan Pittmann,
Javier Simón‐Sánchez,
Gemma Carvill,
Bettina Balint,
Sarah Wiethoff,
Thomas Warner,
Apostolos Papandreou,
Audrey Soo,
Reet Rein,
Liis Kadastik-Eerme,
Sanna Puusepp,
Karit Reinson,
Tiiu Tomberg,
Gabriela Pino,
Joaquín Campos,
Haşmet Hanağası,
Thomas Gasser,
Kailash Bhatia,
Manju Kurian,
Ebba Lohmann,
Katrin Õunap,
Christian Rosenmund,
Thomas Südhof,
Nicholas Wood,
Dimitri Krainc,
Claudio Acuña,
Alan Pittman,
Liis Kadastik‐Eerme +35 authors
,
Claudio Acuna Tip Tip