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    Results: 1 to 20 of 164

    1.

    New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

    Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ.

    Neurology. 2013 Jan 15;80(3):268-75. doi: 10.1212/WNL.0b013e31827e07be. Epub 2012 Dec 26.

    PMID:
    23269600
    [PubMed - indexed for MEDLINE]
    2.

    Pantothenate - kinase associated neurodegeneration.

    Parmar A, Khare S, Srivastav V.

    J Assoc Physicians India. 2012 Apr;60:74-6.

    PMID:
    23029753
    [PubMed - indexed for MEDLINE]
    3.

    Syndromes of neurodegeneration with brain iron accumulation.

    Schneider SA, Bhatia KP.

    Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. Review.

    PMID:
    22704258
    [PubMed - indexed for MEDLINE]
    4.

    Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

    Campanella A, Privitera D, Guaraldo M, Rovelli E, Barzaghi C, Garavaglia B, Santambrogio P, Cozzi A, Levi S.

    Hum Mol Genet. 2012 Sep 15;21(18):4049-59. doi: 10.1093/hmg/dds229. Epub 2012 Jun 12.

    PMID:
    22692681
    [PubMed - indexed for MEDLINE]
    5.

    Neurodegeneration with brain iron accumulation.

    Dusek P, Schneider SA.

    Curr Opin Neurol. 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. Review.

    PMID:
    22691760
    [PubMed - indexed for MEDLINE]
    6.

    Motor activation in patients with Pantothenate-Kinase Associated Neurodegeneration: a functional magnetic resonance imaging study.

    Stoeter P, Rodriguez-Raecke R, Vilchez C, Perez-Then E, Speckter H, Oviedo J, Roa-Sanchez P.

    Parkinsonism Relat Disord. 2012 Nov;18(9):1007-10. doi: 10.1016/j.parkreldis.2012.05.009. Epub 2012 Jun 8.

    PMID:
    22682757
    [PubMed - indexed for MEDLINE]
    7.

    Pantothenate kinase-associated neurodegeneration.

    Hartig MB, Prokisch H, Meitinger T, Klopstock T.

    Curr Drug Targets. 2012 Aug;13(9):1182-9. Review.

    PMID:
    22515741
    [PubMed - indexed for MEDLINE]
    8.

    Iron dysregulation in movement disorders.

    Dusek P, Jankovic J, Le W.

    Neurobiol Dis. 2012 Apr;46(1):1-18. doi: 10.1016/j.nbd.2011.12.054. Epub 2012 Jan 12. Review.

    PMID:
    22266337
    [PubMed - indexed for MEDLINE]
    9.

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

    Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V.

    Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14.

    PMID:
    22221393
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).

    Delgado RF, Sanchez PR, Speckter H, Then EP, Jimenez R, Oviedo J, Dellani PR, Foerster B, Stoeter P.

    J Magn Reson Imaging. 2012 Apr;35(4):788-94. doi: 10.1002/jmri.22884. Epub 2011 Nov 29.

    PMID:
    22127788
    [PubMed - indexed for MEDLINE]
    11.

    Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.

    Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH.

    Eur J Neurol. 2012 Apr;19(4):556-61. doi: 10.1111/j.1468-1331.2011.03589.x. Epub 2011 Nov 22.

    PMID:
    22103354
    [PubMed - indexed for MEDLINE]
    12.

    Deep brain stimulation in Pantothenate Kinase Associated Neurodegeneration: challenges for the future.

    Pauls KA, Timmermann L.

    Eur J Neurol. 2012 Apr;19(4):533-4. doi: 10.1111/j.1468-1331.2011.03585.x. Epub 2011 Nov 19. No abstract available.

    PMID:
    22098018
    [PubMed - indexed for MEDLINE]
    13.

    Transcranial sonography in pantothenate kinase-associated neurodegeneration.

    Kostić VS, Svetel M, Mijajlović M, Pavlović A, Ječmenica-Lukić M, Kozić D.

    J Neurol. 2012 May;259(5):959-64. doi: 10.1007/s00415-011-6294-4. Epub 2011 Nov 5. Erratum in: J Neurol. 2012 May;259(5):965. Kozić, Dušan [corrected to Kozić, Duško].

    PMID:
    22057405
    [PubMed - indexed for MEDLINE]
    14.

    Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.

    Schneider SA, Hardy J, Bhatia KP.

    Mov Disord. 2012 Jan;27(1):42-53. doi: 10.1002/mds.23971. Epub 2011 Oct 26. Review.

    PMID:
    22031173
    [PubMed - indexed for MEDLINE]
    15.

    Neuroacanthocytosis syndromes.

    Jung HH, Danek A, Walker RH.

    Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. Review.

    PMID:
    22027213
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.

    Rossi D, De Grandis E, Barzaghi C, Mascaretti M, Garavaglia B, Zanotto E, Morana G, Biancheri R.

    Brain Dev. 2012 Jun;34(6):536-8. doi: 10.1016/j.braindev.2011.09.010. Epub 2011 Oct 14.

    PMID:
    21999968
    [PubMed - indexed for MEDLINE]
    17.

    Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.

    Siudeja K, Srinivasan B, Xu L, Rana A, de Jong J, Nollen EA, Jackowski S, Sanford L, Hayflick S, Sibon OC.

    EMBO Mol Med. 2011 Dec;3(12):755-66. doi: 10.1002/emmm.201100180. Epub 2011 Oct 14.

    PMID:
    21998097
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

    Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H.

    Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

    PMID:
    21981780
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

    Chiapparini L, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N.

    Neuropediatrics. 2011 Aug;42(4):159-62. doi: 10.1055/s-0031-1285925. Epub 2011 Aug 29.

    PMID:
    21877312
    [PubMed - indexed for MEDLINE]
    20.

    Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA).

    Liman J, Wellmer A, Rostasy K, Bähr M, Kermer P.

    Eur J Paediatr Neurol. 2012 Mar;16(2):175-8. doi: 10.1016/j.ejpn.2011.07.009. Epub 2011 Aug 3.

    PMID:
    21816641
    [PubMed - indexed for MEDLINE]

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