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Items: 1 to 20 of 320

1.

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
2.
3.

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.

4.

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
5.

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
6.

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
7.

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
8.

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.

Ann Neurol. 2003 Feb;53(2):252-8.

PMID:
12557294
9.

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
10.

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
11.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.

PMID:
17384640
12.

Five new cases of a recently described leukoencephalopathy with high brain lactate.

Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H.

Neurology. 2004 Aug 24;63(4):688-92.

PMID:
15326244
13.

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.

14.

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
15.

Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression.

Labauge P, Roullet E, Boespflug-Tanguy O, Nicoli F, Le Fur Y, Cozzone PJ, Ducreux D, Rodriguez D.

Eur Neurol. 2007;58(1):59-61. Epub 2007 May 4. No abstract available.

16.
17.

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.

Fatemi A, Barker PB, Uluğ AM, Nagae-Poetscher LM, Beauchamp NJ, Moser AB, Raymond GV, Moser HW, Naidu S.

Neurology. 2003 Apr 22;60(8):1301-7.

PMID:
12707433
18.

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
19.

[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
20.

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

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