Brain morphometry in Pontocerebellar Hypoplasia type 2-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Brain morphometry in Pontocerebellar Hypoplasia type 2

Published:2016-07-19 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Ekert Kaspar,Groeschel Samuel,Sánchez-Albisua Iciar,Frölich Saskia,Dieckmann Andrea,Engel Corinna,Krägeloh-Mann Ingeborg

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0481-4

Reference23 articles.

1. Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. Orphanet J Rare Dis. 2011;6:50.

2. Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008;40:1113–8.

3. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134:143–56.

4. Barth PG, Aronica E, de Vries L, Nikkels PGJ, Scheper W, Hoozemans JJ, et al. Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol. 2007;114:373–86.

5. Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Müller T, et al. Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Eur J Paediatr Neurol. 2007;11:146–52.

Cited by 10 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. Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences;Disease Models & Mechanisms;2024-07-01

2. Growth charts for pontocerebellar hypoplasia type 2A;2024-06-24

3. Human organoid model of PCH2a recapitulates brain region-specific pathology;2022-10-17

4. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes;Journal of Medical Genetics;2021-10-16

5. Diagnostic Approach to Cerebellar Hypoplasia;The Cerebellum;2021-02-03

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