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Results: 1 to 20 of 121

1.

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]
Free Article
2.

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. doi: 10.1016/j.jns.2009.11.008. Epub 2009 Dec 14.

PMID:
20006850
[PubMed - indexed for MEDLINE]
3.

Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.

Hayflick SJ.

Curr Opin Pediatr. 2003 Dec;15(6):572-7. Review.

PMID:
14631201
[PubMed - indexed for MEDLINE]
4.

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ.

Folia Neuropathol. 2005;43(4):286-96. Review.

PMID:
16416393
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.

Brunetti D, Dusi S, Morbin M, Uggetti A, Moda F, D'Amato I, Giordano C, d'Amati G, Cozzi A, Levi S, Hayflick S, Tiranti V.

Hum Mol Genet. 2012 Dec 15;21(24):5294-305. doi: 10.1093/hmg/dds380. Epub 2012 Sep 13.

PMID:
22983956
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Kurian MA, Hayflick SJ.

Int Rev Neurobiol. 2013;110:49-71. doi: 10.1016/B978-0-12-410502-7.00003-X. Review.

PMID:
24209433
[PubMed - indexed for MEDLINE]
7.

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.

Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ.

Ann N Y Acad Sci. 2004 Mar;1012:282-98.

PMID:
15105273
[PubMed - indexed for MEDLINE]
8.

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]
9.

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

Pérez-González EA, Chacón-Camacho OF, Arteaga-Vázquez J, Zenteno JC, Mutchinick OM.

Eur J Med Genet. 2013 Nov;56(11):606-8. doi: 10.1016/j.ejmg.2013.08.007. Epub 2013 Sep 25.

PMID:
24075960
[PubMed - indexed for MEDLINE]
10.

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.

Wu Z, Li C, Lv S, Zhou B.

Hum Mol Genet. 2009 Oct 1;18(19):3659-72. doi: 10.1093/hmg/ddp314. Epub 2009 Jul 13.

PMID:
19602483
[PubMed - indexed for MEDLINE]
Free Article
11.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

Shan J, Wen B, Zhu J, Lin P, Zheng J, Yan C.

Neurol Sci. 2013 Apr;34(4):561-3. doi: 10.1007/s10072-012-1177-8. Epub 2012 Aug 29.

PMID:
22930366
[PubMed - indexed for MEDLINE]
12.
13.

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.

Matarin MM, Singleton AB, Houlden H.

Neurosci Lett. 2006 Oct 23;407(2):162-5. Epub 2006 Sep 7.

PMID:
16962235
[PubMed - indexed for MEDLINE]
14.

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.

Lee CH, Lu CS, Chuang WL, Yeh TH, Jung SM, Huang CL, Lai SC.

ScientificWorldJournal. 2013 Nov 19;2013:860539. doi: 10.1155/2013/860539. eCollection 2013. Review.

PMID:
24348190
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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]
16.

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
17.
18.

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.

Poli M, Derosas M, Luscieti S, Cavadini P, Campanella A, Verardi R, Finazzi D, Arosio P.

Neurobiol Dis. 2010 Aug;39(2):204-10. doi: 10.1016/j.nbd.2010.04.009. Epub 2010 Apr 23.

PMID:
20399859
[PubMed - indexed for MEDLINE]
19.

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.

Liang TW, Truax AC, Trojanowski JQ, Lee VM, Stern MB, Kotzbauer PT.

Mov Disord. 2006 May;21(5):718-22.

PMID:
16450344
[PubMed - indexed for MEDLINE]
20.

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Cangül H, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER.

Turk J Pediatr. 2009 Mar-Apr;51(2):161-5.

PMID:
19480328
[PubMed - indexed for MEDLINE]
Free Article

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