Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy-Reference-Cited by-同舟云学术

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Published:2016-08 Issue:2 Volume:99 Page:414-422
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kopajtich Robert,Murayama Kei,Janecke Andreas R.,Haack Tobias B.,Breuer Maximilian,Knisely A.S.,Harting Inga,Ohashi Toya,Okazaki Yasushi,Watanabe Daisaku,Tokuzawa Yoshimi,Kotzaeridou Urania,Kölker Stefan,Sauer Sven,Carl Matthias,Straub Simon,Entenmann Andreas,Gizewski Elke,Feichtinger René G.,Mayr Johannes A.,Lackner Karoline,Strom Tim M.,Meitinger Thomas,Müller Thomas,Ohtake Akira,Hoffmann Georg F.,Prokisch Holger,Staufner Christian

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Aminoacyl-tRNA synthetases in medicine and disease;Yao;EMBO Mol. Med.,2013

2. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V;Antonellis;Am. J. Hum. Genet.,2003

3. The mitochondrial aminoacyl tRNA synthetases: genes and syndromes;Diodato;Int. J. Cell Biol.,2014

4. Mitochondrial aminoacyl-tRNA synthetases in human disease;Konovalova;Mol. Genet. Metab.,2013

5. Transfer RNA and human disease;Abbott;Front. Genet.,2014

Cited by 64 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. Cochlear Implantation for Isoleucyl-tRNA Synthetase Mutation-Associated Mitochondrial Disease: A Case Report;Cureus;2024-08-25

2. Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations;Genes;2024-07-08

3. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

4. Long noncoding RNA and messenger RNA profiling in epicardial adipose tissue of patients with new-onset postoperative atrial fibrillation after coronary artery bypass grafting;European Journal of Medical Research;2024-02-17

5. Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency;Journal of Inherited Metabolic Disease;2024-01-27