Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations-Reference-Cited by-同舟云学术

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Published:2021-06 Issue:2 Volume:133 Page:222-229
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Roux Charles-Joris,Barcia Giulia,Schiff Manuel,Sissler Marie,Levy Raphaël,Dangouloff-Ros Volodia,Desguerre Isabelle,Edvardson Shimon,Elpeleg Orli,Rötig Agnès,Munnich Arnold,Boddaert Nathalie

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

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

4. When a common biological role does not imply common disease outcomes: disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases;González-Serrano;J. Biol. Chem.,2019

5. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease;Meyer-Schuman;Hum. Mol. Genet.,2017

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