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    Results: 1 to 20 of 100

    1.

    Friedreich ataxia: neuropathology revised.

    Koeppen AH, Mazurkiewicz JE.

    J Neuropathol Exp Neurol. 2013 Feb;72(2):78-90. doi: 10.1097/NEN.0b013e31827e5762. Review.

    PMID:
    23334592
    [PubMed - indexed for MEDLINE]
    2.

    Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.

    Cnop M, Igoillo-Esteve M, Rai M, Begu A, Serroukh Y, Depondt C, Musuaya AE, Marhfour I, Ladrière L, Moles Lopez X, Lefkaditis D, Moore F, Brion JP, Cooper JM, Schapira AH, Clark A, Koeppen AH, Marchetti P, Pandolfo M, Eizirik DL, Féry F.

    Ann Neurol. 2012 Dec;72(6):971-82. doi: 10.1002/ana.23698.

    PMID:
    23280845
    [PubMed - indexed for MEDLINE]
    3.

    Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.

    Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G.

    J Biol Chem. 2013 Feb 8;288(6):4116-27. doi: 10.1074/jbc.M112.435263. Epub 2012 Dec 26.

    PMID:
    23269675
    [PubMed - indexed for MEDLINE]
    4.

    Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia.

    Whitnall M, Suryo Rahmanto Y, Huang ML, Saletta F, Lok HC, Gutiérrez L, Lázaro FJ, Fleming AJ, St Pierre TG, Mikhael MR, Ponka P, Richardson DR.

    Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):20590-5. doi: 10.1073/pnas.1215349109. Epub 2012 Nov 20.

    PMID:
    23169664
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Letter by Peverill regarding article, "The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms".

    Peverill RE.

    Circulation. 2012 Oct 23;126(17):e272. doi: 10.1161/CIRCULATIONAHA.112.115287. No abstract available.

    PMID:
    23091090
    [PubMed - indexed for MEDLINE]
    6.

    Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.

    Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K.

    PLoS One. 2012;7(10):e47847. doi: 10.1371/journal.pone.0047847. Epub 2012 Oct 17.

    PMID:
    23082224
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    A review of Friedreich ataxia clinical trial results.

    Perlman SL.

    J Child Neurol. 2012 Sep;27(9):1217-22. doi: 10.1177/0883073812453872. Review.

    PMID:
    22927692
    [PubMed - indexed for MEDLINE]
    8.

    Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.

    Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.

    J Child Neurol. 2012 Sep;27(9):1095-120. doi: 10.1177/0883073812448840. Epub 2012 Aug 1.

    PMID:
    22859693
    [PubMed - indexed for MEDLINE]
    9.

    Unanswered questions in Friedreich ataxia.

    Lynch DR, Deutsch EC, Wilson RB, Tennekoon G.

    J Child Neurol. 2012 Sep;27(9):1223-9. doi: 10.1177/0883073812453498. Epub 2012 Jul 25. Review.

    PMID:
    22832776
    [PubMed - indexed for MEDLINE]
    10.

    Skeletal muscle involvement in friedreich ataxia and potential effects of recombinant human erythropoietin administration on muscle regeneration and neovascularization.

    Nachbauer W, Boesch S, Reindl M, Eigentler A, Hufler K, Poewe W, Löscher W, Wanschitz J.

    J Neuropathol Exp Neurol. 2012 Aug;71(8):708-15. doi: 10.1097/NEN.0b013e31825fed76.

    PMID:
    22805773
    [PubMed - indexed for MEDLINE]
    11.

    Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.

    Du J, Campau E, Soragni E, Ku S, Puckett JW, Dervan PB, Gottesfeld JM.

    J Biol Chem. 2012 Aug 24;287(35):29861-72. doi: 10.1074/jbc.M112.391961. Epub 2012 Jul 13.

    PMID:
    22798143
    [PubMed - indexed for MEDLINE]
    12.

    Therapeutic developments in Friedreich ataxia.

    Wilson RB.

    J Child Neurol. 2012 Sep;27(9):1212-6. doi: 10.1177/0883073812449691. Epub 2012 Jul 12. Review.

    PMID:
    22791549
    [PubMed - indexed for MEDLINE]
    13.

    miR-886-3p levels are elevated in Friedreich ataxia.

    Mahishi LH, Hart RP, Lynch DR, Ratan RR.

    J Neurosci. 2012 Jul 4;32(27):9369-73. doi: 10.1523/JNEUROSCI.0059-12.2012.

    PMID:
    22764244
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia.

    Soragni E, Xu C, Plasterer HL, Jacques V, Rusche JR, Gottesfeld JM.

    J Child Neurol. 2012 Sep;27(9):1164-73. doi: 10.1177/0883073812448533. Epub 2012 Jul 4. Review.

    PMID:
    22764181
    [PubMed - indexed for MEDLINE]
    15.

    Cardiomyopathy in Friedreich ataxia: clinical findings and research.

    Payne RM, Wagner GR.

    J Child Neurol. 2012 Sep;27(9):1179-86. doi: 10.1177/0883073812448535. Epub 2012 Jul 4. Review.

    PMID:
    22764179
    [PubMed - indexed for MEDLINE]
    16.

    Auditory processing deficits in children with Friedreich ataxia.

    Rance G, Corben L, Delatycki M.

    J Child Neurol. 2012 Sep;27(9):1197-203. doi: 10.1177/0883073812448963. Epub 2012 Jun 29.

    PMID:
    22752495
    [PubMed - indexed for MEDLINE]
    17.

    Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants.

    Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR.

    J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.

    PMID:
    22752494
    [PubMed - indexed for MEDLINE]
    18.

    Clinical features of Friedreich ataxia.

    Delatycki MB, Corben LA.

    J Child Neurol. 2012 Sep;27(9):1133-7. doi: 10.1177/0883073812448230. Epub 2012 Jun 29. Review.

    PMID:
    22752493
    [PubMed - indexed for MEDLINE]
    19.

    Novel diagnostic paradigms for Friedreich ataxia.

    Brigatti KW, Deutsch EC, Lynch DR, Farmer JM.

    J Child Neurol. 2012 Sep;27(9):1146-51. doi: 10.1177/0883073812448440. Epub 2012 Jun 29. Review.

    PMID:
    22752491
    [PubMed - indexed for MEDLINE]
    20.

    Cardiac transplantation in Friedreich ataxia.

    Yoon G, Soman T, Wilson J, George K, Mital S, Dipchand AI, McCabe J, Logan W, Kantor P.

    J Child Neurol. 2012 Sep;27(9):1193-6. doi: 10.1177/0883073812448229. Epub 2012 Jun 29. Review.

    PMID:
    22752490
    [PubMed - indexed for MEDLINE]

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