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Journal Abstract Search

427 related items for PubMed ID: 25915509

  • 1. Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
    Schiessl-Weyer J, Roa P, Laccone F, Kluge B, Tichy A, De Almeida Ribeiro E, Prohaska R, Stoeter P, Siegl C, Salzer U.
    PLoS One; 2015; 10(4):e0125861. PubMed ID: 25915509
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  • 3. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
    Werning M, Müllner EW, Mlynek G, Dobretzberger V, Djinovic-Carugo K, Baron DM, Prokisch H, Büchner B, Klopstock T, Salzer U.
    Ann Clin Transl Neurol; 2020 Aug; 7(8):1340-1351. PubMed ID: 32705819
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  • 6. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
    Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.
    J Neurol Sci; 2010 Mar 15; 290(1-2):172-6. PubMed ID: 20006850
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  • 9. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
    Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ.
    Neurology; 2002 Jun 11; 58(11):1673-4. PubMed ID: 12058097
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  • 10. Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.
    Wu Z, Li C, Lv S, Zhou B.
    Hum Mol Genet; 2009 Oct 01; 18(19):3659-72. PubMed ID: 19602483
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  • 12. Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.
    Aoun M, Corsetto PA, Nugue G, Montorfano G, Ciusani E, Crouzier D, Hogarth P, Gregory A, Hayflick S, Zorzi G, Rizzo AM, Tiranti V.
    Mol Genet Metab; 2017 Jun 01; 121(2):180-189. PubMed ID: 28456385
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  • 18. Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives.
    Álvarez-Córdoba M, Talaverón-Rey M, Villalón-García I, Povea-Cabello S, Suárez-Rivero JM, Suárez-Carrillo A, Munuera-Cabeza M, Salas JJ, Sánchez-Alcázar JA.
    Orphanet J Rare Dis; 2021 May 05; 16(1):201. PubMed ID: 33952316
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