Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways

(2012) Laura van Berge et al.   BIOCHEMICAL JOURNAL

Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis

(2012) S. Arthur Moore et al.   JOURNAL OF NEUROLOGY

Early-Onset LBSL: How Severe Does It Get?

(2012) M. Steenweg et al.   NEUROPEDIATRICS

Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases

(2012) Amber L. Southwell et al.   TRENDS IN MOLECULAR MEDICINE

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA

(2011) Laura van Berge et al.   BIOCHEMICAL JOURNAL

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

(2011) N Miyake et al.   CLINICAL GENETICS

Synthesis and Characterization of Pseudocantharidins, Novel Phosphatase Modulators That Promote the Inclusion of Exon 7 into theSMN(Survival of Motoneuron) pre-mRNA

(2011) Zhaiyi Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate

(2011) Suvasini Sharma et al.   JOURNAL OF CHILD NEUROLOGY

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene

(2011) Charalampos Tzoulis et al.   JOURNAL OF NEUROLOGY

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

(2010) Jaime Lin et al.   JOURNAL OF CHILD NEUROLOGY

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

(2010) Pierre Labauge et al.   JOURNAL OF NEUROLOGY

Content validity of the expanded and revised Gross Motor Function Classification System

(2009) Robert J Palisano et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings

(2008) Kayihan Uluc et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES