Recessive mutations in VPS13D cause childhood onset movement disorders-Reference-Cited by-同舟云学术

Recessive mutations in VPS13D cause childhood onset movement disorders

Published:2018-04-10 Issue:6 Volume:83 Page:1089-1095
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Gauthier Julie¹,Meijer Inge A.²,Lessel Davor³^ORCID,Mencacci Niccolò E.⁴,Krainc Dimitri⁴,Hempel Maja³,Tsiakas Konstantinos⁵,Prokisch Holger⁶⁷,Rossignol Elsa²,Helm Margaret H.⁸,Rodan Lance H.⁹,Karamchandani Jason¹⁰,Carecchio Miryam¹¹,Lubbe Steven J.⁴,Telegrafi Aida¹²,Henderson Lindsay B.¹²,Lorenzo Kerry¹³,Wallace Stephanie E.¹⁴,Glass Ian A.¹⁴,Hamdan Fadi F.¹,Michaud Jacques L.¹⁵,Rouleau Guy A.¹⁶,Campeau Philippe M.¹⁵^ORCID

Affiliation:

1. Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of PediatricsSaint Justine University Hospital CenterMontreal Canada

2. Department of NeuroscienceUniversity of MontrealMontreal Canada

3. Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburg Germany

4. Department of NeurologyNorthwestern University, Feinberg School of MedicineChicago IL

5. Department of PediatricsUniversity Medical Center Hamburg‐EppendorfHamburg Germany

6. Institute of Human Genetics, Helmholtz Center MunichNeuherberg Germany

7. Institute of Human GeneticsTechnical University MunichMunich Germany

8. Maine Medical Partners Pediatric Specialty CarePortland ME

9. Department of NeurologyBoston Children's HospitalBoston MA

10. Department of PathologyMcGill University, Montreal Neurological InstituteMontreal Canada

11. Molecular Neurogenetics Unit, Institute for Research and Health Care (IRCCS) Foundation Carlo Besta Neurological InstituteMilan Italy

12. GeneDxGaithersburg MD

13. Kadlec Clinic Genetic CounselingRichland WA

14. Division of Genetic Medicine, Department of PediatricsSeattle Children's Hospital and University of WashingtonSeattle WA

15. Department of PediatricsSaint Justine University Hospital Center and University of MontrealMontreal Canada

16. Montreal Neurological Institute, Department of Neurology and NeurosurgeryMcGill UniversityMontreal Canada

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25204

Reference23 articles.

1. Analysis of the human VPS13 gene family

2. Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease

3. Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance

4. A conserved sorting-associated protein is mutant in chorea-acanthocytosis

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