VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia-Reference-Cited by-同舟云学术

VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

Published:2019-12-26 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Koh Kishin¹^ORCID,Ishiura Hiroyuki²,Shimazaki Haruo³^ORCID,Tsutsumiuchi Michiko⁴⁵,Ichinose Yuta¹,Nan Haitian¹,Hamada Shun⁶,Ohtsuka Toshihisa⁶,Tsuji Shoji⁷⁸,Takiyama Yoshihisa¹^ORCID

Affiliation:

1. Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan

2. Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan

3. Division of Neurology Department of Internal Medicine Jichi Medical University School of Medicine Tochigi Japan

4. Department of Neurology Jichi Medical University Saitama Medical Center Omiya Japan

5. Department of Neurology Toranomon Hospital Tokyo Japan

6. Department of Biochemistry Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan

7. Department of Molecular Neurology Graduate School of Medicine University of Tokyo Tokyo Japan

8. Department of Neurology International University of Health and Welfare Chiba Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1108

Reference16 articles.

1. A method and server for predicting damaging missense mutations

2. Predicting the Functional Effect of Amino Acid Substitutions and Indels

3. Recessive mutations in VPS13D cause childhood onset movement disorders

4. Human genetic variation database, a reference database of genetic variations in the Japanese population

5. A general framework for estimating the relative pathogenicity of human genetic variants

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