Epidemiological investigation of spinal muscular atrophy in Japan-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Epidemiological investigation of spinal muscular atrophy in Japan

Published:2022-01 Issue:1 Volume:44 Page:2-16
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Ito Mayuri,Yamauchi Akemi,Urano Mari,Kato Tamaki,Matsuo Mari,Nakashima Kenji,Saito Kayoko

Funder

Novartis

Biogen

Japan Agency for Medical Research and Development

Government of Japan Ministry of Health Labour and Welfare

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference41 articles.

1. Chaos in the classification of SMA: a possible resolution;Dubowitz;Neuromuscul Disord,1995

2. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

3. Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients;Kaneko;Brain Dev,2017

4. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review;Verhaart;Orphanet J Rare Dis,2017

5. A multi-source approach to determine SMA incidence and research ready population;Verhaart;J Neurol,2017

Cited by 16 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. Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: A case report;Medicine;2024-08-02

2. A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay;PLOS ONE;2024-08-01

3. Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years;Genes;2024-02-28

4. Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function;Brain and Development;2023-12

5. Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy;Neuroscience Research;2023-09

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3