Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| 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 
|
| 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 |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 176950351X | ||
| 003 | DE-627 | ||
| 005 | 20250804152912.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210906s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1172/JCI140625 |2 doi | |
| 035 | |a (DE-627)176950351X | ||
| 035 | |a (DE-599)KXP176950351X | ||
| 035 | |a (OCoLC)1341421015 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Mencacci, Niccolò E. |e VerfasserIn |0 (DE-588)1076893635 |0 (DE-627)835450708 |0 (DE-576)445779659 |4 aut | |
| 245 | 1 | 0 | |a Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia |c 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 |
| 264 | 1 | |c April 1, 2021 | |
| 300 | |a 14 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 06.09.2021 | ||
| 700 | 1 | |a Brockmann, Marisa M. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dai, Jinye |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pajusalu, Sander |e VerfasserIn |4 aut | |
| 700 | 1 | |a Atasu, Burcu |e VerfasserIn |4 aut | |
| 700 | 1 | |a Campos, Joaquín |d 1992- |e VerfasserIn |0 (DE-588)1305083334 |0 (DE-627)1860855075 |4 aut | |
| 700 | 1 | |a Pino, Gabriela |d 1985- |e VerfasserIn |0 (DE-588)1343128277 |0 (DE-627)1903453909 |4 aut | |
| 700 | 1 | |a Gonzalez-Latapi, Paulina |e VerfasserIn |4 aut | |
| 700 | 1 | |a Patzke, Christopher |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schwake, Michael |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tucci, Arianna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pittman, Alan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Simon-Sanchez, Javier |e VerfasserIn |4 aut | |
| 700 | 1 | |a Carvill, Gemma L. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Balint, Bettina |d 1982- |e VerfasserIn |0 (DE-588)1026036844 |0 (DE-627)725954604 |0 (DE-576)371029805 |4 aut | |
| 700 | 1 | |a Wiethoff, Sarah |e VerfasserIn |4 aut | |
| 700 | 1 | |a Warner, Thomas T. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Papandreou, Apostolos |e VerfasserIn |4 aut | |
| 700 | 1 | |a Soo, Audrey |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rein, Reet |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kadastik-Eerme, Liis |e VerfasserIn |4 aut | |
| 700 | 1 | |a Puusepp, Sanna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Reinson, Karit |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tomberg, Tiiu |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hanagasi, Hasmet |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gasser, Thomas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bhatia, Kailash P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kurian, Manju A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lohmann, Ebba |e VerfasserIn |4 aut | |
| 700 | 1 | |a Õunap, Katrin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rosenmund, Christian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Südhof, Thomas C. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wood, Nicholas W. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Krainc, Dimitri |e VerfasserIn |4 aut | |
| 700 | 1 | |a Acuna, Claudio |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t The journal of clinical investigation |d Ann Arbor, Mich. : ASCJ, 1924 |g 131(2021), 7 vom: 1. Apr., Artikel-ID e140625, Seite 1-14 |h Online-Ressource |w (DE-627)316004677 |w (DE-600)2018375-6 |w (DE-576)094950423 |x 1558-8238 |7 nnas |a Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia |
| 773 | 1 | 8 | |g volume:131 |g year:2021 |g number:7 |g day:1 |g month:04 |g elocationid:e140625 |g pages:1-14 |g extent:14 |a Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia |
| 856 | 4 | 0 | |u https://doi.org/10.1172/JCI140625 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.jci.org/articles/view/140625 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210906 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 1026036844 |a Balint, Bettina |m 1026036844:Balint, Bettina |d 910000 |d 911100 |e 910000PB1026036844 |e 911100PB1026036844 |k 0/910000/ |k 1/910000/911100/ |p 15 | ||
| 998 | |g 1343128277 |a Pino, Gabriela |m 1343128277:Pino, Gabriela |d 50000 |d 53100 |e 50000PP1343128277 |e 53100PP1343128277 |k 0/50000/ |k 1/50000/53100/ |p 7 | ||
| 998 | |g 1305083334 |a Campos, Joaquín |m 1305083334:Campos, Joaquín |d 140000 |e 140000PC1305083334 |k 0/140000/ |p 6 | ||
| 999 | |a KXP-PPN176950351X |e 3974311556 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["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"]},"id":{"doi":["10.1172/JCI140625"],"eki":["176950351X"]},"origin":[{"dateIssuedKey":"2021","dateIssuedDisp":"April 1, 2021"}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"id":{"eki":["316004677"],"zdb":["2018375-6"],"issn":["1558-8238"]},"origin":[{"publisher":"ASCJ","dateIssuedKey":"1924","dateIssuedDisp":"1924-","publisherPlace":"Ann Arbor, Mich."}],"titleAlt":[{"title":"JCI"}],"part":{"issue":"7","pages":"1-14","year":"2021","extent":"14","text":"131(2021), 7 vom: 1. Apr., Artikel-ID e140625, Seite 1-14","volume":"131"},"pubHistory":["1.1924/25 -"],"corporate":[{"roleDisplay":"Herausgebendes Organ","display":"American Society for Clinical Investigation","role":"isb"}],"language":["eng"],"recId":"316004677","type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaThe journal of clinical investigation","note":["Gesehen am 25.01.2022","Fortsetzung der Druck-Ausgabe"],"title":[{"title_sort":"journal of clinical investigation","subtitle":"JCI ; the publication of the American Society for Clinical Investigation","title":"The journal of clinical investigation"}]}],"physDesc":[{"extent":"14 S."}],"person":[{"family":"Mencacci","given":"Niccolò E.","display":"Mencacci, Niccolò E.","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Brockmann, Marisa M.","given":"Marisa M.","family":"Brockmann"},{"display":"Dai, Jinye","roleDisplay":"VerfasserIn","role":"aut","family":"Dai","given":"Jinye"},{"given":"Sander","family":"Pajusalu","role":"aut","display":"Pajusalu, Sander","roleDisplay":"VerfasserIn"},{"family":"Atasu","given":"Burcu","roleDisplay":"VerfasserIn","display":"Atasu, Burcu","role":"aut"},{"display":"Campos, Joaquín","roleDisplay":"VerfasserIn","role":"aut","family":"Campos","given":"Joaquín"},{"family":"Pino","given":"Gabriela","display":"Pino, Gabriela","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Gonzalez-Latapi","given":"Paulina","display":"Gonzalez-Latapi, Paulina","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","display":"Patzke, Christopher","role":"aut","family":"Patzke","given":"Christopher"},{"roleDisplay":"VerfasserIn","display":"Schwake, Michael","role":"aut","family":"Schwake","given":"Michael"},{"family":"Tucci","given":"Arianna","roleDisplay":"VerfasserIn","display":"Tucci, Arianna","role":"aut"},{"role":"aut","display":"Pittman, Alan","roleDisplay":"VerfasserIn","given":"Alan","family":"Pittman"},{"family":"Simon-Sanchez","given":"Javier","roleDisplay":"VerfasserIn","display":"Simon-Sanchez, Javier","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Carvill, Gemma L.","given":"Gemma L.","family":"Carvill"},{"given":"Bettina","family":"Balint","role":"aut","display":"Balint, Bettina","roleDisplay":"VerfasserIn"},{"family":"Wiethoff","given":"Sarah","display":"Wiethoff, Sarah","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Warner","given":"Thomas T.","roleDisplay":"VerfasserIn","display":"Warner, Thomas T.","role":"aut"},{"display":"Papandreou, Apostolos","roleDisplay":"VerfasserIn","role":"aut","family":"Papandreou","given":"Apostolos"},{"role":"aut","display":"Soo, Audrey","roleDisplay":"VerfasserIn","given":"Audrey","family":"Soo"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Rein, Reet","given":"Reet","family":"Rein"},{"roleDisplay":"VerfasserIn","display":"Kadastik-Eerme, Liis","role":"aut","family":"Kadastik-Eerme","given":"Liis"},{"family":"Puusepp","given":"Sanna","display":"Puusepp, Sanna","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Karit","family":"Reinson","role":"aut","display":"Reinson, Karit","roleDisplay":"VerfasserIn"},{"given":"Tiiu","family":"Tomberg","role":"aut","display":"Tomberg, Tiiu","roleDisplay":"VerfasserIn"},{"display":"Hanagasi, Hasmet","roleDisplay":"VerfasserIn","role":"aut","family":"Hanagasi","given":"Hasmet"},{"given":"Thomas","family":"Gasser","role":"aut","roleDisplay":"VerfasserIn","display":"Gasser, Thomas"},{"role":"aut","display":"Bhatia, Kailash P.","roleDisplay":"VerfasserIn","given":"Kailash P.","family":"Bhatia"},{"roleDisplay":"VerfasserIn","display":"Kurian, Manju A.","role":"aut","family":"Kurian","given":"Manju A."},{"display":"Lohmann, Ebba","roleDisplay":"VerfasserIn","role":"aut","family":"Lohmann","given":"Ebba"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Õunap, Katrin","given":"Katrin","family":"Õunap"},{"given":"Christian","family":"Rosenmund","role":"aut","display":"Rosenmund, Christian","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","display":"Südhof, Thomas C.","role":"aut","family":"Südhof","given":"Thomas C."},{"family":"Wood","given":"Nicholas W.","display":"Wood, Nicholas W.","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","display":"Krainc, Dimitri","role":"aut","family":"Krainc","given":"Dimitri"},{"display":"Acuna, Claudio","roleDisplay":"VerfasserIn","role":"aut","family":"Acuna","given":"Claudio"}],"title":[{"title_sort":"Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia","title":"Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia"}],"recId":"176950351X","language":["eng"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"note":["Gesehen am 06.09.2021"]} | ||
| SRT | |a MENCACCINIBIALLELICV1202 | ||