180 related articles for article (PubMed ID: 33977142)
1. LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD; Figuccia S; Bellacchio E; Alvarez K; Castiglioni C; Topaloglu P; Stutterd CA; Erasmus CE; Sanchez-Valle A; Lebon S; Hughes S; Schmitt-Mechelke T; Vasco G; Chow G; Rahikkala E; Dallabona C; Okuma C; Aiello C; Goffrini P; Abbink TEM; Bertini ES; Van der Knaap MS
Neurol Genet; 2021 Apr; 7(2):e559. PubMed ID: 33977142
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel
Huang WL; Steenari MR; Barrick R; Simon MT; Chang R; Eftekharian SS; Stover A; Schwartz PH; Latini A; Abdenur JE
Mol Genet Metab Rep; 2024 Mar; 38():101025. PubMed ID: 38125072
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A New
N'Gbo N'Gbo Ikazabo R; Mostosi C; Jissendi P; Labaisse MA; Vandernoot I
Case Rep Neurol; 2020; 12(1):107-113. PubMed ID: 32308605
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI.
Kassem H; Wafaie A; Abdelfattah S; Farid T
Eur J Radiol; 2014 Jan; 83(1):191-6. PubMed ID: 24558666
[TBL] [Abstract][Full Text] [Related]
8. Perinatal Manifestations of
Ngo J; Prokop JW; Umfleet J; Seaver LH
Child Neurol Open; 2021; 8():2329048X211019173. PubMed ID: 34104671
[TBL] [Abstract][Full Text] [Related]
9. Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel
Li JL; Lee NC; Chen PS; Lee GH; Wu RM
Mov Disord Clin Pract; 2021 Oct; 8(7):1116-1122. PubMed ID: 34631948
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S; O'Brien B; Fine AS; Ying M; Fatemi A; Nemeth C
Res Sq; 2023 Feb; ():. PubMed ID: 36909591
[TBL] [Abstract][Full Text] [Related]
12. A novel
Shimojima K; Higashiguchi T; Kishimoto K; Miyatake S; Miyake N; Takanashi JI; Matsumoto N; Yamamoto T
Hum Genome Var; 2017; 4():17051. PubMed ID: 29138691
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L; Dooves S; van Berkel CG; Polder E; van der Knaap MS; Scheper GC
Biochem J; 2012 Feb; 441(3):955-62. PubMed ID: 22023289
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Nemeth CL; Tomlinson SN; Rosen M; O'Brien BM; Larraza O; Jain M; Murray CF; Marx JS; Delannoy M; Fine AS; Wu D; Trifunovic A; Fatemi A
Exp Neurol; 2020 Apr; 326():113164. PubMed ID: 31887305
[TBL] [Abstract][Full Text] [Related]
18. DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Aradjanski M; Dogan SA; Lotter S; Wang S; Hermans S; Wibom R; Rugarli E; Trifunovic A
Hum Mol Genet; 2017 Nov; 26(21):4181-4189. PubMed ID: 28985337
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]