Vertikaler Blickrichtungsnystagmus-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Vertikaler Blickrichtungsnystagmus

Published:2024-01-25 Issue: Volume: Page:
ISSN:0026-9298
Container-title:Monatsschrift Kinderheilkunde
language:de
Short-container-title:Monatsschr Kinderheilkd

Author:

Margreitter Julian,Weiss Johannes,Baumann Matthias,Scholl-Bürgi Sabine,Kaser Verena,Zschocke Johannes,Karall Daniela,Zöggeler Thomas

Funder

University of Innsbruck and Medical University of Innsbruck

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00112-023-01919-z.pdf

Reference5 articles.

1. Al-Hassnan ZN et al (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 52(3):186–194

2. Alfadhel M et al (2018) Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases. Eur J Paediatr Neurol 22(1):46–55 (2)

3. Alaimo JT et al (2018) Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Hum Mutat 39(4):537–549

4. Toldo I et al (2018) Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. Metab Brain Dis 33(3):805–812

5. Lebigot E et al (2021) A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe‑S Protein Maturation. Biomedicines

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