Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation-Reference-Cited by-同舟云学术

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Published:2022-08 Issue:4 Volume:136 Page:260-267
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wongkittichote Parith,Magistrati Martina,Shimony Joshua S.,Smyser Christopher D.,Fatemi Seyed Ali,Fine Amena S.,Bellacchio Emanuele,Dallabona Cristina,Shinawi Marwan

Funder

University of Washington

IDDRC

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Government of Italy Commission for the Selection of Excellence University Departments

Ministero dell’Istruzione, dell’Università e della Ricerca

National Institutes of Health

Publisher

Elsevier BV

Subject

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

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2. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings;Uluc;J. Neurol. Sci.,2008

3. Crystal structure of human cytosolic aspartyl-tRNA synthetase, a component of multi-tRNA synthetase complex;Kim;Proteins,2013

4. Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL);Lin;PLoS One,2019

5. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy;Van Berge;Brain,2014

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