These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 26327357)

  • 1. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
    Köhler C; Heyer C; Hoffjan S; Stemmler S; Lücke T; Thiels C; Kohlschütter A; Löbel U; Horvath R; Kleinle S; Benet-Pages A; Abicht A
    Mol Cell Probes; 2015 Oct; 29(5):319-22. PubMed ID: 26327357
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation].
    Huang QH; Xiao JX; Wang JM; Jiang YW; Wu Y
    Zhonghua Er Ke Za Zhi; 2012 Jan; 50(1):50-5. PubMed ID: 22456076
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
    van Berge L; Hamilton EM; Linnankivi T; Uziel G; Steenweg ME; Isohanni P; Wolf NI; Krägeloh-Mann I; Brautaset NJ; Andrews PI; de Jong BA; al Ghamdi M; van Wieringen WN; Tannous BA; Hulleman E; Würdinger T; van Berkel CG; Polder E; Abbink TE; Struys EA; Scheper GC; van der Knaap MS;
    Brain; 2014 Apr; 137(Pt 4):1019-29. PubMed ID: 24566671
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
    Tzoulis C; Tran GT; Gjerde IO; Aasly J; Neckelmann G; Rydland J; Varga V; Wadel-Andersen P; Bindoff LA
    J Neurol; 2012 Feb; 259(2):292-6. PubMed ID: 21792730
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
    Wongkittichote P; Magistrati M; Shimony JS; Smyser CD; Fatemi SA; Fine AS; Bellacchio E; Dallabona C; Shinawi M
    Mol Genet Metab; 2022 Aug; 136(4):260-267. PubMed ID: 35820270
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.
    Çavuşoğlu D; Olgaç-Dündar N; Öztekin Ö; Özdemir TR; Arıcan P; Gençpınar P
    Turk J Pediatr; 2018; 60(2):216-220x. PubMed ID: 30325133
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a Novel Indel Variant in the
    Bostanova FM; Tsygankova PG; Larshina EA; Nagornov IO; Evseeva YV; Krutikhina IL; Dzhentemirova ME; Kashlakova MN; Petukhova MS; Sharkova IV; Zakharova EY
    Genes (Basel); 2024 May; 15(5):. PubMed ID: 38790244
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
    Isohanni P; Linnankivi T; Buzkova J; Lönnqvist T; Pihko H; Valanne L; Tienari PJ; Elovaara I; Pirttilä T; Reunanen M; Koivisto K; Marjavaara S; Suomalainen A
    J Med Genet; 2010 Jan; 47(1):66-70. PubMed ID: 19592391
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
    Yahia A; Elsayed L; Babai A; Salih MA; El-Sadig SM; Amin M; Koko M; Abubakr R; Idris R; Taha SOMA; Elmalik SA; Brice A; Ahmed AE; Stevanin G
    BMC Neurol; 2018 Oct; 18(1):175. PubMed ID: 30352563
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.
    Lin J; Chiconelli Faria E; Da Rocha AJ; Rodrigues Masruha M; Pereira Vilanova LC; Scheper GC; Van der Knaap MS
    J Child Neurol; 2010 Nov; 25(11):1425-8. PubMed ID: 20501884
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
    Martikainen MH; Ellfolk U; Majamaa K
    J Neurol; 2013 Aug; 260(8):2078-83. PubMed ID: 23652419
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
    Synofzik M; Schicks J; Lindig T; Biskup S; Schmidt T; Hansel J; Lehmann-Horn F; Schöls L
    J Med Genet; 2011 Oct; 48(10):713-5. PubMed ID: 21749991
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.
    Lan MY; Chang YY; Yeh TH; Lin TK; Lu CS
    J Neurol Sci; 2017 Jan; 372():229-231. PubMed ID: 28017220
    [No Abstract]   [Full Text] [Related]  

  • 14. Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
    Guang S; O'Brien BM; Fine AS; Ying M; Fatemi A; Nemeth CL
    Sci Rep; 2023 Aug; 13(1):13042. PubMed ID: 37563224
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene.
    Yelam A; Nagarajan E; Chuquilin M; Govindarajan R
    BMJ Case Rep; 2019 Jan; 12(1):. PubMed ID: 30635318
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
    van Berge L; Kevenaar J; Polder E; Gaudry A; Florentz C; Sissler M; van der Knaap MS; Scheper GC
    Biochem J; 2013 Mar; 450(2):345-50. PubMed ID: 23216004
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).
    Lin TK; Chang YY; Lin HY; Liou CW; Wang PW; Chuang JH; Chen SD; Chuang YC; Huang ST; Hsu TY; Peng CH; Lan MY
    PLoS One; 2019; 14(10):e0224173. PubMed ID: 31671122
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: a case report and literature review.
    Cheng FB; Shen PP; Zhou HW; Meng HM; Yang Y; Feng JC
    Neurol India; 2013; 61(2):161-3. PubMed ID: 23644316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early-onset LBSL: how severe does it get?
    Steenweg ME; van Berge L; van Berkel CG; de Coo IF; Temple IK; Brockmann K; Mendonça CI; Vojta S; Kolk A; Peck D; Carr L; Uziel G; Feigenbaum A; Blaser S; Scheper GC; van der Knaap MS
    Neuropediatrics; 2012 Dec; 43(6):332-8. PubMed ID: 23065766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
    Rumyantseva A; Motori E; Trifunovic A
    Hum Mol Genet; 2020 Oct; 29(17):2845-2854. PubMed ID: 32766765
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.