| 1 |
33977142 | LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. | 2021 Apr |
1 |
| 2 |
34104671 | Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). | 2021 Jan-Dec |
4 |
| 3 |
34631948 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity. | 2021 Oct |
2 |
| 4 |
32308605 | A New DARS2 Mutation Discovered in an Adult Patient. | 2020 Jan-Apr |
2 |
| 5 |
32766765 | DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia. | 2020 Oct 10 |
2 |
| 6 |
32925487 | Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up. | 2020 Sep |
3 |
| 7 |
33182419 | Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. | 2020 Nov 9 |
1 |
| 8 |
33574740 | The Leukodystrophies HBSL and LBSL-Correlates and Distinctions. | 2020 |
1 |
| 9 |
30635318 | Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene. | 2019 Jan 10 |
1 |
| 10 |
31671122 | Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). | 2019 |
3 |
| 11 |
29359243 | Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. | 2018 Jun |
1 |
| 12 |
30006346 | Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations. | 2018 Aug 31 |
2 |
| 13 |
30352563 | Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. | 2018 Oct 23 |
2 |
| 14 |
28017220 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. | 2017 Jan 15 |
2 |
| 15 |
29138691 | A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. | 2017 |
3 |
| 16 |
26327357 | Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. | 2015 Oct |
2 |
| 17 |
24005482 | A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings. | 2014 Sep |
1 |
| 18 |
24407472 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings. | 2014 Jun |
1 |
| 19 |
24558666 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI. | 2014 Jan |
2 |
| 20 |
24566671 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. | 2014 Apr |
1 |
| 21 |
22677571 | Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. | 2013 Apr |
3 |
| 22 |
23216004 | Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. | 2013 Mar 1 |
2 |
| 23 |
23643384 | Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. | 2013 May 2 |
2 |
| 24 |
23644316 | Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: a case report and literature review. | 2013 Mar-Apr |
3 |
| 25 |
21792730 | Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. | 2012 Feb |
2 |
| 26 |
22023289 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. | 2012 Feb 1 |
2 |
| 27 |
22422207 | Mitochondrial syndromes with leukoencephalopathies. | 2012 Feb |
2 |
| 28 |
22456076 | [Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation]. | 2012 Jan |
1 |
| 29 |
21427441 | Spinal cord calcification in an early-onset progressive leukoencephalopathy. | 2011 Jul |
1 |
| 30 |
21749991 | Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. | 2011 Oct |
2 |
| 31 |
22006980 | Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. | 2011 Nov |
1 |
| 32 |
19592391 | DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. | 2010 Jan |
1 |
| 33 |
20167452 | [Genetic demyelinating diseases]. | 2010 Mar |
1 |
| 34 |
20501884 | Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. | 2010 Nov |
2 |
| 35 |
19770827 | [Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children]. | 2009 |
1 |
| 36 |
18619624 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. | 2008 Oct 15 |
1 |
| 37 |
17384640 | Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. | 2007 Apr |
1 |
| 38 |
17665025 | Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients. | 2007 Jun |
1 |
| 39 |
20506600 | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation | 1993 |
2 |