An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1)-Reference-Cited by-同舟云学术

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An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1)

Published:2018-10 Issue:10 Volume:61 Page:602-606
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wu Shuiyan,Chen Ting,Li Ying,Chen Linqi,Xu Qiuqin,Xiao Fei,Bai Zhenjiang

Funder

National Natural Science Foundation of China

Suzhou Clinical Key Diseases Diagnosis and Treatment Project

Suzhou Science and Technology Development Project

Natural Science Foundation of Jiangsu Province, China

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

1. Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant;Baughn;Pediatr. Pulmonol.,2011

2. Identification of glucocorticoid-regulated genes that control cell proliferation during murine respiratory development;Bird;J. Physiol.,2007

3. Structural and functional insights into the human Upf1 helicase core;Cheng;EMBO J.,2007

4. The DEAD-box protein family of RNA helicases;Cordin;Gene,2006

5. The newly discovered Q motif of DEAD-box RNA helicases regulates RNA-binding and helicase activity;Cordin;EMBO J.,2014

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. Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1;Frontiers in Neurology;2024-05-30

2. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review;Frontiers in Neuroscience;2023-11-17

3. Spinal muscular atrophy with respiratory distress type 1 (smard1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants;The Turkish Journal of Pediatrics;2022

4. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future;Neuromuscular Disorders;2021-12

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