Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation-Reference-Cited by-同舟云学术

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Published:2007-03-25 Issue:4 Volume:39 Page:534-539
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Scheper Gert C,van der Klok Thom,van Andel Rob J,van Berkel Carola G M,Sissler Marie,Smet Joél,Muravina Tatjana I,Serkov Sergey V,Uziel Graziella,Bugiani Marianna,Schiffmann Raphael,Krägeloh-Mann Ingeborg,Smeitink Jan A M,Florentz Catherine,Van Coster Rudy,Pronk Jan C,van der Knaap Marjo S

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2013.pdf

Reference30 articles.

1. van der Knaap, M.S. et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 53, 252–258 (2003).

2. van der Knaap, M.S. & Valk, J. Magnetic Resonance of Myelination and Myelin Disorders (Springer Verlag, Berlin, 2005).

3. Linnankivi, T. et al. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology 63, 688–692 (2004).

4. Serkov, S.V. et al. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 35, 1–5 (2004).

5. Petzold, G.C. et al. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J. Neurol. Neurosurg. Psychiatry 77, 889–891 (2006).

Cited by 404 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. Targeted degradation of extracellular mitochondrial aspartyl-tRNA synthetase modulates immune responses;Nature Communications;2024-07-22

3. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24

4. Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;Genes;2024-05-11

5. Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation;Molecular Genetics and Metabolism Reports;2024-03