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5. A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria. Messmer M; Florentz C; Schwenzer H; Scheper GC; van der Knaap MS; Maréchal-Drouard L; Sissler M Biochem J; 2011 Feb; 433(3):441-6. PubMed ID: 21121901 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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10. 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]
11. Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis. Moore SA; Kumar N; Gavrilova RH J Neurol; 2012 Nov; 259(11):2494-7. PubMed ID: 22843165 [No Abstract] [Full Text] [Related]
12. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate. Sharma S; Sankhyan N; Kumar A; Scheper GC; van der Knaap MS; Gulati S J Child Neurol; 2011 Jun; 26(6):773-6. PubMed ID: 21493805 [TBL] [Abstract][Full Text] [Related]
13. Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. Yamashita S; Miyake N; Matsumoto N; Osaka H; Iai M; Aida N; Tanaka Y Brain Dev; 2013 Apr; 35(4):312-6. PubMed ID: 22677571 [TBL] [Abstract][Full Text] [Related]
14. DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy. Pinto WB; de Souza PV Brain; 2014 Jul; 137(Pt 7):e289. PubMed ID: 24860140 [No Abstract] [Full Text] [Related]
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16. Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy. van der Knaap MS; Hamilton EM; van Berge L Brain; 2014 Jul; 137(Pt 7):e290. PubMed ID: 24860141 [No Abstract] [Full Text] [Related]
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20. Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures. Sauter C; Lorber B; Gaudry A; Karim L; Schwenzer H; Wien F; Roblin P; Florentz C; Sissler M Sci Rep; 2015 Dec; 5():17332. PubMed ID: 26620921 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]