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Journal Abstract Search

136 related items for PubMed ID: 28711503

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  • 44. Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA.
    Seller A, Kennedy CR, Temple IK, Brown GK.
    J Inherit Metab Dis; 1997 Mar; 20(1):102-3. PubMed ID: 9061574
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  • 45. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
    Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K.
    Acta Neurol Scand; 2006 Nov; 114(5):350-3. PubMed ID: 17022785
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  • 48. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
    McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM.
    Nat Genet; 2002 Feb; 30(2):145-6. PubMed ID: 11799391
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  • 51. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
    Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.
    Brain; 2013 Mar; 136(Pt 3):882-90. PubMed ID: 23423671
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  • 52. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Mar; 45(2):69-75. PubMed ID: 10721666
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  • 55. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan.
    Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.
    J Formos Med Assoc; 1999 May; 98(5):326-34. PubMed ID: 10420700
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  • 56. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
    Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S.
    J Child Neurol; 2000 Nov; 15(11):759-61. PubMed ID: 11108511
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  • 57. Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
    Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G.
    Ann Neurol; 2020 Aug; 88(2):218-232. PubMed ID: 32445240
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  • 58. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
    Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
    Ann Neurol; 1993 Dec; 34(6):827-34. PubMed ID: 8250532
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  • 59. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
    Naess K, Freyer C, Bruhn H, Wibom R, Malm G, Nennesmo I, von Döbeln U, Larsson NG.
    Biochim Biophys Acta; 2009 May; 1787(5):484-90. PubMed ID: 19103152
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