Cerebellar Cysts and Dysplasias: More Diagnoses to Consider
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference4 articles.
1. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome);Mickalizi;Eur J Hum Genet,2016
2. Cerebellar dysplasia;Poretti,2012
3. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation;Clement;Ann Neurol,2008
4. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy;Aldinger;Am J Hum Genet,2014
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. Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia;European Journal of Medical Genetics;2023-02
2. Variability of retinopathy consequent upon novel mutations in LAMA1;Ophthalmic Genetics;2022-05-26
3. Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome;Brain and Development;2022-02
4. A laminin-based local regulatory network in the testis that supports spermatogenesis;Seminars in Cell & Developmental Biology;2022-01
5. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome;Brain Communications;2021
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