Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects-Reference-Cited by-同舟云学术

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Published:2018-06 Issue:6 Volume:83 Page:1075-1088
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Seong Eunju¹,Insolera Ryan²,Dulovic Marija³,Kamsteeg Erik‐Jan⁴,Trinh Joanne³,Brüggemann Norbert⁵,Sandford Erin¹,Li Sheng¹,Ozel Ayse Bilge⁶,Li Jun Z.⁶⁷^ORCID,Jewett Tamison⁸,Kievit Anneke J. A.⁹,Münchau Alexander³,Shakkottai Vikram¹⁰,Klein Christine³,Collins Catherine A.²^ORCID,Lohmann Katja³,Warrenburg Bart P.¹¹,Burmeister Margit¹⁶⁷¹²^ORCID

Affiliation:

1. Molecular and Behavioral Neuroscience InstituteUniversity of MichiganAnn Arbor MI

2. Department of Molecular, Cellular, and Developmental BiologyUniversity of MichiganAnn Arbor MI

3. Institute of NeurogeneticsUniversity of LübeckLübeck Germany

4. Department of Human GeneticsRadboud University Medical CentreNijmegen the Netherlands

5. Department of NeurologyUniversity of LübeckLübeck Germany

6. Department of Human GeneticsUniversity of MichiganAnn Arbor MI

7. Department of Computational Medicine and BioinformaticsUniversity of MichiganAnn Arbor MI

8. Department of Pediatrics, Section on Medical GeneticsWake Forest School of MedicineWinston‐Salem NC

9. Department of Clinical GeneticsErasmus MCRotterdam the Netherlands

10. Departments of Neurology and Molecular and Integrative PhysiologyUniversity of MichiganAnn Arbor MI

11. Department of Neurology, Donders Institute for Brain, Cognition, and BehaviorRadboud University Medical CentreNijmegen the Netherlands

12. Department of PsychiatryUniversity of MichiganAnn Arbor MI

Funder

NIH

National Ataxia Foundation

ZonMW

Hersenstichting

Radboud University Medical Center

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25220

Reference51 articles.

1. Genes and Genetic Testing in Hereditary Ataxias

2. Systematic review of autosomal recessive ataxias and proposal for a classification

3. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

4. Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

5. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

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