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Items: 1 to 20 of 29

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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
4.

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
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.

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

PMID:
17384640
6.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.

Biochim Biophys Acta. 2014 Jan;1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24.

7.

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.

8.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.

Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.

9.

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
10.

Epilepsy in mitochondrial disorders.

Finsterer J, Zarrouk Mahjoub S.

Seizure. 2012 Jun;21(5):316-21. doi: 10.1016/j.seizure.2012.03.003. Epub 2012 Mar 27. Review.

11.

[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
12.

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
13.

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
14.

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
15.

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.

J Med Genet. 2011 Oct;48(10):713-5. doi: 10.1136/jmg.2011.090282. Epub 2011 Jul 11.

PMID:
21749991
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.

[Genetic demyelinating diseases].

Labauge P, Boespflug-Tanguy O.

Presse Med. 2010 Mar;39(3):363-70. doi: 10.1016/j.lpm.2009.11.011. Epub 2010 Feb 18. French.

PMID:
20167452
18.

Mitochondrial ataxias.

Finsterer J.

Can J Neurol Sci. 2009 Sep;36(5):543-53. Review.

PMID:
19831121
19.

[Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children].

Mikhaĭlova SV, Zakharova EIu, Banin AV, Demushkina AA, Petrukhin AS.

Zh Nevrol Psikhiatr Im S S Korsakova. 2009;109(9):16-22. Review. Russian.

PMID:
19770827
20.

Ataxias with autosomal, X-chromosomal or maternal inheritance.

Finsterer J.

Can J Neurol Sci. 2009 Jul;36(4):409-28. Review.

PMID:
19650351
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