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Items: 1 to 20 of 85

1.

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. doi: 10.1093/brain/awu135. Epub 2014 May 24. No abstract available.

PMID:
24860141
2.

DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy.

Pinto WB, de Souza PV.

Brain. 2014 Jul;137(Pt 7):e289. doi: 10.1093/brain/awu134. Epub 2014 May 24. No abstract available.

PMID:
24860140
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; LBSL Research Group.

Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24.

PMID:
24566671
4.

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 15;372:229-231. doi: 10.1016/j.jns.2016.11.058. Epub 2016 Nov 24. No abstract available.

PMID:
28017220
5.

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. doi: 10.1007/s00415-012-6596-1. Epub 2012 Jul 29. Review. No abstract available.

PMID:
22843165
6.

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 1;450(2):345-50. doi: 10.1042/BJ20121564.

PMID:
23216004
7.

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. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9.

PMID:
19592391
8.

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. doi: 10.1055/s-0032-1329395. Epub 2012 Oct 12.

PMID:
23065766
9.

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. doi: 10.1177/0883073810370897. Epub 2010 May 25.

PMID:
20501884
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. doi: 10.1007/s00415-011-6176-9. Epub 2011 Jul 27.

PMID:
21792730
11.

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. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29.

PMID:
26327357
12.

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 1;441(3):955-62. doi: 10.1042/BJ20110795.

PMID:
22023289
13.

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.

Baertling F, Schaper J, Mayatepek E, Distelmaier F.

Neurology. 2013 Jul 9;81(2):e10-1. doi: 10.1212/WNL.0b013e31829a339b. No abstract available.

PMID:
23836946
14.

Mitochondrial syndromes with leukoencephalopathies.

Wong LJ.

Semin Neurol. 2012 Feb;32(1):55-61. doi: 10.1055/s-0032-1306387. Epub 2012 Mar 15. Review.

PMID:
22422207
15.

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

Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O.

J Neurol. 2011 Feb;258(2):335-7. doi: 10.1007/s00415-010-5755-5. Epub 2010 Sep 29. No abstract available.

PMID:
20878420
16.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E.

Brain Dev. 2011 Oct;33(9):713-7. doi: 10.1016/j.braindev.2010.12.005. Epub 2011 Jan 28.

PMID:
21277128
17.
18.

Leukoencephalopathy: "Before concluding treatment efficacy...".

Gilden D, Schiffmann R.

Neurology. 2015 Jan 20;84(3):218-9. doi: 10.1212/WNL.0000000000001165. Epub 2014 Dec 19. No abstract available.

PMID:
25527269
19.

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. doi: 10.1177/0883073810390695. Epub 2011 Apr 14.

PMID:
21493805
20.

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U.

J Child Neurol. 2011 Jul;26(7):876-80. doi: 10.1177/0883073810390038. Epub 2011 Mar 22.

PMID:
21427441

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