PubMed (cited) for id: 611105

Year	Number of Results
2003	1
2004	2
2006	1
2007	1
2009	1
2010	1
2011	2
2014	1
2024	0

1

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. van Berge L, et al. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671

2

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.

Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. Miyake N, et al. Clin Genet. 2011 Sep;80(3):293-6. doi: 10.1111/j.1399-0004.2011.01644.x. Clin Genet. 2011. PMID: 21815884 No abstract available.

3

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.

Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L. Synofzik M, et al. J Med Genet. 2011 Oct;48(10):713-5. doi: 10.1136/jmg.2011.090282. Epub 2011 Jul 11. J Med Genet. 2011. PMID: 21749991

4

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. Isohanni P, et al. J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592391

5

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. Scheper GC, et al. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640

6

Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.

Petzold GC, Bohner G, Klingebiel R, Amberger N, van der Knaap MS, Zschenderlein R. Petzold GC, et al. J Neurol Neurosurg Psychiatry. 2006 Jul;77(7):889-91. doi: 10.1136/jnnp.2005.078568. J Neurol Neurosurg Psychiatry. 2006. PMID: 16788019 Free PMC article. No abstract available.

7

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. Linnankivi T, et al. Neurology. 2004 Aug 24;63(4):688-92. doi: 10.1212/01.wnl.0000134658.35601.41. Neurology. 2004. PMID: 15326244

8

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. Serkov SV, et al. Neuropediatrics. 2004 Feb;35(1):1-5. doi: 10.1055/s-2003-43548. Neuropediatrics. 2004. PMID: 15002045

9

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. van der Knaap MS, et al. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

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