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Journal Abstract Search

209 related items for PubMed ID: 21427441

  • 1. 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. PubMed ID: 21427441
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  • 2. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
    Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.
    Orphanet J Rare Dis; 2018 Apr 04; 13(1):45. PubMed ID: 29615062
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  • 3. 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 04; 26(6):773-6. PubMed ID: 21493805
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  • 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 04; 25(11):1425-8. PubMed ID: 20501884
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  • 9. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI.
    Kassem H, Wafaie A, Abdelfattah S, Farid T.
    Eur J Radiol; 2014 Jan 04; 83(1):191-6. PubMed ID: 24558666
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  • 11. 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 01; 450(2):345-50. PubMed ID: 23216004
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  • 16. 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 01; 45(3):188-91. PubMed ID: 24407472
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  • 19. Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
    Bostanova FM, Tsygankova PG, Larshina EA, Nagornov IO, Evseeva YV, Krutikhina IL, Dzhentemirova ME, Kashlakova MN, Petukhova MS, Sharkova IV, Zakharova EY.
    Genes (Basel); 2024 May 11; 15(5):. PubMed ID: 38790244
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