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    Results: 1 to 20 of 31

    1.

    Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy".

    Sarnat HB, Flores-Sarnat L, Casey R, Scott P, Khan A.

    Neuropathology. 2012 Dec;32(6):617-27. doi: 10.1111/j.1440-1789.2012.01308.x. Epub 2012 Mar 12.

    PMID:
    23174091
    [PubMed - indexed for MEDLINE]
    2.

    Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome.

    Comte C, Tonin Y, Heckel-Mager AM, Boucheham A, Smirnov A, Auré K, Lombès A, Martin RP, Entelis N, Tarassov I.

    Nucleic Acids Res. 2013 Jan 7;41(1):418-33. doi: 10.1093/nar/gks965. Epub 2012 Oct 18.

    PMID:
    23087375
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Torsade de pointes in Kearns-Sayre syndrome.

    Wilmin S, De Bels D, Knecht S, Gottignies P, Gazagnes MD, Devriendt J.

    Pract Neurol. 2012 Jun;12(3):199-201. doi: 10.1136/practneurol-2012-000256.

    PMID:
    22661355
    [PubMed - indexed for MEDLINE]
    4.

    A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

    Binder V, Steenpass L, Laws HJ, Ruebo J, Borkhardt A.

    J Pediatr Hematol Oncol. 2012 May;34(4):283-92. doi: 10.1097/MPH.0b013e3182288249. Review.

    PMID:
    22531495
    [PubMed - indexed for MEDLINE]
    5.

    Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

    Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ.

    Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167.

    PMID:
    22491194
    [PubMed - indexed for MEDLINE]
    6.

    Kearns Sayre Syndrome--case report with review of literature.

    Phadke M, Lokeshwar MR, Bhutada S, Tampi C, Saxena R, Kohli S, Shah KN.

    Indian J Pediatr. 2012 May;79(5):650-4. doi: 10.1007/s12098-011-0618-3. Epub 2012 Jan 10. Review.

    PMID:
    22231766
    [PubMed - indexed for MEDLINE]
    7.

    Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.

    Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R.

    Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18.

    PMID:
    22027147
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years.

    Zarnowski T, Kosior-Jarecka E.

    Clin Experiment Ophthalmol. 2012 Mar;40(2):218-20. doi: 10.1111/j.1442-9071.2011.02721.x. Epub 2011 Dec 6. No abstract available.

    PMID:
    22004289
    [PubMed - indexed for MEDLINE]
    9.

    MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

    Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M.

    Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.

    PMID:
    21996807
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

    Tondo M, Málaga I, O'Callaghan M, Serrano M, Emperador S, Ormazabal A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M, Artuch R.

    Mitochondrion. 2011 Nov;11(6):867-70. doi: 10.1016/j.mito.2011.06.009. Epub 2011 Jul 2.

    PMID:
    21745599
    [PubMed - indexed for MEDLINE]
    11.

    Renal involvement in mitochondrial cytopathies.

    Emma F, Bertini E, Salviati L, Montini G.

    Pediatr Nephrol. 2012 Apr;27(4):539-50. doi: 10.1007/s00467-011-1926-6. Epub 2011 Jun 9. Review.

    PMID:
    21656172
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia.

    Smits BW, Heijdra YF, Cuppen FW, van Engelen BG.

    J Neurol. 2011 Nov;258(11):2020-5. doi: 10.1007/s00415-011-6060-7. Epub 2011 May 1.

    PMID:
    21533826
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    A report on a rare case of Kearns Sayre-like syndrome.

    Gupta Y, Gupta M, Sambhav K, Phougat A, Varshney A.

    Nepal J Ophthalmol. 2010 Jul-Dec;2(2):160-3. doi: 10.3126/Nepal Ophthalmic Society.v2i2.3725.

    PMID:
    21505535
    [PubMed - indexed for MEDLINE]
    14.

    Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.

    Homan DJ, Niyazov DM, Fisher PW, Mandras S, Patel H, Bates M, Parrino G, Ventura HO.

    Congest Heart Fail. 2011 Mar-Apr;17(2):102-4. doi: 10.1111/j.1751-7133.2011.00211.x. No abstract available.

    PMID:
    21450000
    [PubMed - indexed for MEDLINE]
    15.

    RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation.

    Mahato B, Jash S, Adhya S.

    Mitochondrion. 2011 Jul;11(4):564-74. doi: 10.1016/j.mito.2011.03.006. Epub 2011 Mar 23.

    PMID:
    21406250
    [PubMed - indexed for MEDLINE]
    16.

    Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

    Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S.

    J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.

    PMID:
    21378381
    [PubMed - indexed for MEDLINE]
    17.

    Hemifacial presentation of mitochondrial myopathy.

    Ali N, Acheson J.

    J Neurol. 2011 May;258(5):923-4. doi: 10.1007/s00415-010-5835-6. Epub 2011 Jan 26. No abstract available.

    PMID:
    21267593
    [PubMed - indexed for MEDLINE]
    18.

    Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.

    Liu CH, Liou CW, Liu CH, Kuo HC, Chu CC, Huang CC.

    Acta Neurol Taiwan. 2011 Mar;20(1):53-8.

    PMID:
    21249588
    [PubMed - indexed for MEDLINE]
    Free Article
    19.

    Kearns-Sayre syndrome presenting as somatomedin C deficiency and complete heart block.

    Ergül Y, Nişli K, Saygılı A, Dindar A.

    Turk Kardiyol Dern Ars. 2010 Dec;38(8):568-71.

    PMID:
    21248459
    [PubMed - indexed for MEDLINE]
    Free Article
    20.

    Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

    Sadikovic B, Wang J, El-Hattab A, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ.

    PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687.

    PMID:
    21187929
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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