Reply to “Truncating VPS16 Mutations are Rare in Early‐Onset Dystonia”-Reference-Cited by-同舟云学术

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Reply to “Truncating VPS16 Mutations are Rare in Early‐Onset Dystonia”

Published:2020-12-22 Issue:3 Volume:89 Page:626-626
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Zech Michael¹²,Steel Dora³⁴^ORCID,Kurian Manju A.³⁴,Winkelmann Juliane¹²⁵⁶

Affiliation:

1. Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany

2. Institute of Human Genetics, Technical University of Munich Munich Germany

3. Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child Health London UK

4. Department of Neurology Great Ormond Street Hospital London UK

5. Lehrstuhl für Neurogenetik, Technische Universität München Munich Germany

6. Munich Cluster for Systems Neurology Munich Germany

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25988

Reference4 articles.

1. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

2. Mutational spectrum of GNAL , THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

3. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

4. Monogenic variants in dystonia: an exome-wide sequencing study

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia;Brain;2021-04-19

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