Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic-Reference-Cited by-同舟云学术

Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

Published:2019-12-18 Issue:1 Volume:51 Page:3-10
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Al Balushi Aaisha¹,Matviychuk Diana²,Jobling Rebekah¹²,Salomons Gajja S.³⁴,Blaser Susan⁵,Mercimek‐Andrews Saadet¹^ORCID

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

2. Genome Diagnostics Laboratory, Department of Pediatric Laboratory Medicine University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

3. Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands

4. Neuroscience Campus Amsterdam The Netherlands

5. Division of Neuroradiology, Department of Diagnostic Imaging University of Toronto, The Hospital for Sick Children Toronto Ontario Canada

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12079

Reference18 articles.

1. The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

2. MutationTaster2: mutation prediction for the deep-sequencing age

3. SIFT missense predictions for genomes

4. A method and server for predicting damaging missense mutations

5. Analysis of protein-coding genetic variation in 60,706 humans

Cited by 15 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. Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review;Neurobiology of Disease;2024-10

2. Case Report: Lethal mitochondrial cardiomyopathy linked to a compound heterozygous variant of PARS2;Frontiers in Cardiovascular Medicine;2024-08-26

3. Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease;American Journal of Medical Genetics Part A;2024-03-12

4. Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75;Gene;2024-02

5. Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep;Molecular Genetics & Genomic Medicine;2023-12-13