Ghosh, Saikat;
Singh, Jaskaran;
Damseh, Nadirah S;
Severino, Mariasavina;
De Pace, Raffaella;
Golding, Adriana E;
Jarnik, Michal;
... Bonifacino, Juan S; + view all
(2025)
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Brain
10.1093/brain/awaf371.
(In press).
![[thumbnail of awaf371.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/text.png) |
Text
awaf371.pdf - Accepted Version Access restricted to UCL open access staff until 17 April 2026. Download (2MB) |
| Type: | Article |
|---|---|
| Title: | EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects |
| Location: | England |
| DOI: | 10.1093/brain/awaf371 |
| Publisher version: | https://doi.org/10.1093/brain/awaf371 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10215594 |
Archive Staff Only
 |
View Item |
