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Items: 1 to 20 of 174

1.

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. doi: 10.1016/j.braindev.2012.05.007. Epub 2012 Jun 5.

PMID:
22677571
2.
3.

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

PMID:
21792730
5.

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
6.
7.

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
8.

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings.

Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, van der Knaap MS.

J Neurol Sci. 2008 Oct 15;273(1-2):118-22. doi: 10.1016/j.jns.2008.06.002. Epub 2008 Jul 10.

PMID:
18619624
9.

Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).

Schicks J, Schöls L, van der Knaap MS, Synofzik M.

Neurology. 2013 Apr 16;80(16):e176-7. doi: 10.1212/WNL.0b013e31828cf846. No abstract available.

PMID:
23589646
10.

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 Mar-Apr;61(2):161-3. doi: 10.4103/0028-3886.111123. Review.

11.

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
12.

[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. Chinese.

PMID:
22456076
13.

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
14.

Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients.

Távora DG, Nakayama M, Gama RL, Alvim TC, Portugal D, Comerlato EA.

Arq Neuropsiquiatr. 2007 Jun;65(2B):506-11.

15.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.

Tylki-Szymanska A, Jurkiewicz E, Zakharova EY, Bobek-Billewicz B.

Neuropediatrics. 2014 Jun;45(3):188-91. doi: 10.1055/s-0033-1364105. Epub 2014 Jan 9.

PMID:
24407472
16.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: a rare white matter disease with characteristic magnetic resonance imaging findings.

Sen A, Wattamwar PR, Thomas B, Nair M.

Neurol India. 2010 Nov-Dec;58(6):958-60. doi: 10.4103/0028-3886.73766. No abstract available.

17.

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
18.

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
19.

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.

Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS.

Brain. 2011 Nov;134(Pt 11):3333-41. doi: 10.1093/brain/awr254. Epub 2011 Oct 17.

PMID:
22006980
20.

Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate.

Serkov SV, Pronin IN, Bykova OV, Maslova OI, Arutyunov NV, Muravina TI, Kornienko VN, Fadeeva LM, Marks H, Bönnemann C, Schiffmann R, van der Knaap MS.

Neuropediatrics. 2004 Feb;35(1):1-5.

PMID:
15002045

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