Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Published:2020-03 Issue:3 Volume:42 Page:289-292
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Murakami Hiroaki,Uehara Tomoko,Tsurusaki Yoshinori,Enomoto Yumi,Kuroda Yukiko,Aida Noriko,Kosaki Kenjiro,Kurosawa Kenji

Funder

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability;Moreno-De-Luca;J Med Genet,2011

2. AP4 deficiency: a novel form of neurodegeneration with brain iron accumulation?;Roubertie;Neurol Genet,2018

3. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature;Abou Jamra;Am J Hum Genet,2011

4. A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease;Kong;PLoS ONE,2013

5. Clinical exome sequencing: results from 2819 samples reflecting 1000 families;Trujillano;Eur J Hum Genet,2017

Cited by 6 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. Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11Caused by Maternal Uniparental Isodisomy;Neurology Genetics;2022-11-23

2. Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation;Journal of Genetics;2022-09-06

3. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15;American Journal of Medical Genetics Part A;2021-05-27

4. Role of adaptin protein complexes in intracellular trafficking and their impact on diseases;Bioengineered;2021-01-01

5. AP4-assocated hereditary spastic paraplegias;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2021

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