Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings

Published:2020-10-26 Issue: Volume: Page:1-4
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Chaudhuri Jasodhara¹,Dutta Atanu Kumar²^ORCID,Biswas Tamoghna³,Biswas Atanu¹,Ray Biman Kanti¹,Ganguly Gautam¹

Affiliation:

1. Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India

2. Department of Biochemistry, All India Institute of Medical Sciences, Kalyani, West Bengal, India

3. Department of Pediatrics, Institute of Post Graduate Medical Education & Research, Kolkata, West Bengal, India

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2020.1840373

Reference15 articles.

1. Charcot-Marie-Tooth disease

2. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features

5. Autosomal recessive forms of hereditary motor and sensory neuropathy.

Cited by 4 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. Clinical and genetic features of patients suffering from CMT4J;Journal of Neurology;2023-11-11

2. Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia;Genes;2023-10-26

3. Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects;Frontiers in Pediatrics;2022-10-21

4. REVIEW OF GENERAL AND HEAD AND NECK/ORAL AND MAXILLOFACIAL FEATURES OF CHARCOT-MARIE-TOOTH DISEASE AND DENTAL MANAGEMENT CONSIDERATIONS;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2021-12

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