Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene-Reference-Cited by-同舟云学术

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Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene

Published:2013 Issue:1 Volume:52 Page:119-124
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Sekijima Yoshiki¹²,Nakamura Katsuya¹,Kishida Dai¹,Narita Aya³,Adachi Kaori⁴,Ohno Kosaku³,Nanba Eiji⁴,Ikeda Shu-ichi¹

Affiliation:

1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

2. Division of Clinical and Molecular Genetics, Shinshu University Hospital, Japan

3. Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Japan

4. Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/52/1/52_52.8901/_pdf

Cited by 19 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. Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1;Journal of Movement Disorders;2024-07-31

2. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

3. NEU1—A Unique Therapeutic Target for Alzheimer’s Disease;Frontiers in Pharmacology;2022-06-29

4. Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells;International Journal of Molecular Sciences;2021-04-22

5. Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report;JA Clinical Reports;2021-03-04

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