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Journal Abstract Search

136 related items for PubMed ID: 28711503

  • 61. G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child.
    Pronicki M, Sykut-Cegielska J, Matyja E, Musialowicz J, Karczmarewicz E, Tonska K, Piechota J, Piekutowska-Abramczuk D, Kowalski P, Bartnik E.
    Folia Neuropathol; 2007; 45(4):187-91. PubMed ID: 18176892
    [Abstract] [Full Text] [Related]

  • 62. [Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria].
    Ueno M, Oka A, Maegaki Y, Toyoshima M, Fujiwaki T, Takeshita K.
    No To Hattatsu; 2001 May; 33(3):276-9. PubMed ID: 11391973
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  • 63. [Mitochondrial dysfunction and brain development disorders].
    Goto Y.
    No To Shinkei; 2001 May; 53(5):421-6. PubMed ID: 11424352
    [No Abstract] [Full Text] [Related]

  • 64. SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease.
    Freitas LF, Miranda EC, Noce TR, Amaro AP, Duarte ML.
    Arq Neuropsiquiatr; 2023 Nov; 81(11):1020-1021. PubMed ID: 37832600
    [No Abstract] [Full Text] [Related]

  • 65. Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
    Shoffner JM.
    Lancet; 1996 Nov 09; 348(9037):1283-8. PubMed ID: 8909383
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  • 70. Response to "Letter to the editors" in regard to the article 'Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients'.
    Mani S.
    J Neurol Sci; 2019 Dec 15; 407():116441. PubMed ID: 31627180
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  • 74. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
    Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, Distelmaier F.
    Brain; 2014 Sep 15; 137(Pt 9):e295. PubMed ID: 24878502
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  • 76. Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
    van der Knaap MS, Kevelam SH.
    Brain; 2014 Sep 15; 137(Pt 9):e297. PubMed ID: 24878500
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  • 77. Only pathogenic variants in protein-coding mtDNA genes cause Leigh syndrome.
    Finsterer J.
    J Neurol Sci; 2019 Dec 15; 407():116447. PubMed ID: 31627182
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