Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations-Reference-Cited by-同舟云学术

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Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

Published:2010-09-29 Issue:2 Volume:258 Page:335-337
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Labauge Pierre,Dorboz Imen,Eymard-Pierre Eleonore,Dereeper Olivier,Boespflug-Tanguy Odile

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-010-5755-5.pdf

Reference7 articles.

1. Van der Knaap MS, van der Voorn P, Barkhof F et al (2003) A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 53:252–258

2. Petzold GC, Bohner G, Klingebiel R, Amberger N, van der Knaap MS, Zschenderlein R (2006) Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 77:889–891

3. Labauge P, Roullet E, Boespflug-Tanguy O et al (2007) Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol 58:59–61

4. Scheper GC, van der Klok T, van Andel RJ et al (2007) Mitochondrial aspartyltRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 39:534–539

5. Labauge P, Ayrignac X, Rodriguez D, Vukusic S et al (2009) Natural history of 16 patients with adult onset vanishing white matter disease. Brain 132:2161–2169

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1. 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

2. Adult-Onset Genetic Leukoencephalopathies With Movement Disorders;Journal of Movement Disorders;2023-05-31

3. An induced pluripotent stem cell line (FHUSTCi002-A) derived from a patient with leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Stem Cell Research;2022-08

4. Aminoacyl-tRNA Synthetases: On Anti-Synthetase Syndrome and Beyond;Frontiers in Immunology;2022-05-13

5. Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity;Movement Disorders Clinical Practice;2021-08-11

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