# Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/loss-of-function-variants-in-scp-hops-scp-complex-genes-scp-i-vps16-i-scp-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Dora Steel,Michael Zech,Chen Zhao,Katy Barwick,Derek Burke,Diane Demailly,Kishore R. Kumar,Giovanna Zorzi,Nardo Nardocci,Rauan Kaiyrzhanov,Matias Wagner,Arcangela Iuso,Riccardo Berutti,Matěj Škorvánek,Ján Necpál,Ryan L. Davis,Sarah Wiethoff,Kshitij Mankad,Sniya Sudhakar,Arianna Ferrini,Suvasini Sharma,Erik‐Jan Kamsteeg,Marina A.J. Tijssen,Corien Verschuuren,Martje E. van Egmond,Joanna M. Flowers,Meriel McEntagart,Arianna Tucci,Philippe Coubes,Bernabé I. Bustos,Paulina González-Latapí,Stephen Tisch,Paul Darveniza,Kathleen M. Gorman,Kathryn J. Peall,Kai Bötzel,Jan Christoph Koch,Tomasz Kmieć,Barbara Plecko,Sylvia Boesch,Bernhard Haslinger,Robert Jech,Barbara Garavaglia,Nick Wood,Henry Houlden,Paul Gissen,Steven Lubbe,Carolyn M. Sue,Laura Cif,Niccolò E. Mencacci,Glenn Anderson,Manju A. Kurian,Juliane Winkelmann |
| Citations | 110 |
| DOI | 10.1002/ana.25879 |
| Fields | Medicine |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879 |
| OpenAlex ID | https://openalex.org/W3079382483 |
| PMID | 32808683 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Matias Wagner](https://scholariq.org/researchers/matias-wagner/)

## Paper journal

- [Annals of Neurology](https://scholariq.org/journals/annals-of-neurology/)

## Paper primary topic

- [Autophagy in Disease and Therapy](https://scholariq.org/topics/autophagy-in-disease-and-therapy/)

## Paper topics

- [Autophagy in Disease and Therapy](https://scholariq.org/topics/autophagy-in-disease-and-therapy/)
- [Lysosomal Storage Disorders Research](https://scholariq.org/topics/lysosomal-storage-disorders-research/)
- [Botulinum Toxin and Related Neurological Disorders](https://scholariq.org/topics/botulinum-toxin-and-related-neurological-disorders/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.