Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation-Reference-Cited by-同舟云学术

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Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation

Published:2015 Issue: Volume: Page:85-89
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

Biancheri Roberta,Lamantea Eleonora,Severino Mariasavina,Diodato Daria,Pedemonte Marina,Cassandrini Denise,Ploederl Alexandra,Trucco Federica,Fiorillo Chiara,Minetti Carlo,Santorelli Filippo M.,Zeviani Massimo,Bruno Claudio

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_434

Cited by 19 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. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect;Brain;2022-11-09

3. Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs;Molecules;2022-05-29

4. Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy;Neuropediatrics;2021-08-26

5. Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate;Brain and Development;2021-08

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